研究者総覧

小出 玲爾 (コイデ レイジ)

  • 内科学講座(神経内科学部門) 教授
Last Updated :2021/11/23

研究者情報

学位

  • 医学博士(新潟大学)

ホームページURL

J-Global ID

研究分野

  • ライフサイエンス / 神経内科学

研究活動情報

論文

  • Kosuke Matsuzono, Tomoya Yagisawa, Keisuke Ohtani, Yohei Ishishita, Takashi Yamaguchi, Takafumi Mashiko, Tadashi Ozawa, Reiji Koide, Ryota Tanaka, Kensuke Kawai, Shigeru Fujimoto
    The Journal of international medical research 49 8 3000605211035197 - 3000605211035197 2021年08月 
    Primary central nervous system lymphoma (PCNSL) is a rare form of non-Hodgkin lymphoma, but its diagnosis is challenging in some cases. A brain biopsy is the gold standard for diagnosing PCNSL, but its invasiveness can be problematic. Thus, noninvasive imaging examinations have been developed for the pre-surgical diagnosis of PCNSL, including gadolinium-enhanced magnetic resonance imaging (MRI), 123I-N-isopropyl-p-iodoamphetamine single-photon emission computed tomography (123I-IMP SPECT), and positron emission tomography with 18F-fluorodeoxyglucose (18F-FDG PET). Here, we report the case of a 71-year-old woman with negative imaging findings for PCNSL, but who was diagnosed with PCNSL by a brain biopsy and histological analysis. Her imaging results were negative for gadolinium-enhanced cranial MRI, with low uptake in 123I-IMP SPECT and hypometabolism in 18F-FDG PET. However, a stereotactic brain biopsy from an abnormal lesion revealed that many round cells had infiltrated into the brain. Moreover, many infiltrating cells were positive for cluster of differentiation (CD)20 and CD79a, and proliferation marker protein Ki-67-positive cells accounted for nearly 80% of all cells. Based on these results, our final pathological diagnosis was PCNSL. The present case highlights the possibility of a PCNSL diagnosis even when all imaging-related examinations display negative results.
  • Kosuke Matsuzono, Masayuki Suzuki, Kumiko Miura, Tadashi Ozawa, Takafumi Mashiko, Reiji Koide, Ryota Tanaka, Shigeru Fujimoto
    Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology 2021年07月 
    BACKGROUND: Although the relationship between amyotrophic lateral sclerosis (ALS) and cervical spondylotic myelopathy (CSM) is important, data relating to CSM complications in ALS remain lacking. PURPOSE: We aimed to investigate and validate the spinal cord conditions of ALS patients. MATERIALS AND METHODS: We recruited all patients diagnosed with ALS, Parkinson's disease (PD), or chronic inflammatory demyelinating polyneuropathy (CIDP) who were admitted to our department from April 1, 2017, to March 31, 2020. We analyzed the cervical or thoracolumbar magnetic resonance imaging (MRI) scans of these 128 patients. Data relating to spondylosis, cord compression, spinal canal diameter, spinal cord diameter, and the closest distance between the cervical spinal canal and cord were validated using MRI. RESULTS: Of the 128 patients, 52 had ALS, 48 had PD, and 28 had CIDP. The proportions of both cervical spondylosis and cervical cord compression were highest in the ALS group compared with the other patient groups (p < 0.05). The proportion of cervical spondylosis in ALS patients reached 38.3%, and that of cervical cord compression reached 53.2%. The closest distance between the cervical spinal canal and cord was also significantly smaller in ALS patients compared with CIDP patients (p < 0.05). In contrast to the cervical cord findings, there were no significant differences in the thoracolumbar cord between ALS patients and the other patient groups. CONCLUSIONS: Of the three disease groups, the proportion of CSM was highest in ALS patients. Furthermore, cervical cord conditions were significantly more crowded in the ALS patients than in the other patient groups.
  • Kosuke Matsuzono, Theerawat Kumutpongpanich, Kana Kubota, Takafumi Okuyama, Kohei Furuya, Tomoya Yagisawa, Akie Horikiri, Takeshi Igarashi, Kumiko Miura, Tadashi Ozawa, Takafumi Mashiko, Haruo Shimazaki, Reiji Koide, Ryota Tanaka, Hayato Shimizu, Yasushi Imai, Kazuomi Kario, Ichizo Nishino, Shigeru Fujimoto
    Internal medicine (Tokyo, Japan) 2021年02月 
    Cardiac involvement has recently been the focus of sporadic late-onset nemaline myopathy (SLONM). However, right ventricular failure and pulmonary hypertension, in addition to repetitive cardiac arrest, are noteworthy characteristics of SLONM. We herein report a 66-year-old woman with SLONM whose main symptoms were cardiac arrest, right ventricular failure, and pulmonary hypertension. Despite permanent pacemaker replacement, cardiac arrest occurred repetitively, and even with continuous positive airway pressure, right ventricular failure and pulmonary hypertension persisted. The patient was finally diagnosed with SLONM by a muscle biopsy. Our case suggests the possibility of cardiovascular involvement in SLONM, especially right ventricular failure and pulmonary hypertension.
  • 心房細動合併脳梗塞急性期患者における大動脈弓部複合粥腫病変(CAPs)併存に関する研究
    鈴木 雅之, 小澤 美里, 三浦 久美子, 小澤 忠嗣, 松薗 構佑, 益子 貴史, 小出 玲爾, 藤本 茂, 田中 亮太
    脳循環代謝 32 1 86 - 86 (一社)日本脳循環代謝学会 2020年11月
  • Masayuki Suzuki, Kohei Furuya, Misato Ozawa, Kumiko Miura, Tadashi Ozawa, Kosuke Matsuzono, Takafumi Mashiko, Reiji Koide, Shigeru Fujimoto, Ryota Tanaka
    Journal of atherosclerosis and thrombosis 2020年09月 
    AIM: Aortic arch atherosclerosis, particularly complex aortic arch plaques (CAPs), is an important source of cerebral emboli. CAPs and atrial fibrillation (AF) often co-exist; however, the prevalence and risk of CAPs in acute ischemic stroke patients with AF is unclear. METHODS: In patients with acute ischemic stroke with non-valvular AF admitted to Jichi Medical University Hospital during April 2016 to September 2019, we retrospectively evaluated the presence of CAPs on transesophageal echocardiography (TEE). RESULTS: CAPs were observed in 41 (38.7 %) of 106 patients with non-valvular AF. Older age, diabetes mellitus, chronic kidney disease, low high-density lipoprotein cholesterol (HDL-C) levels, higher levels of glycohemoglobin A1c (HbA1c), higher CHADS2 and CHA2DS2-VASc scores, and intracranial or carotid artery stenosis were more frequently observed in CAPs-positive than in CAPs-negative patients. In multivariable analyses, older age (odds ratio [OR]: 1.2 per year increase; 95% confidence interval [CI]: 1.07-1.24; P<0.0001), diabetes mellitus (OR: 4.7; 95%CI: 1.27-17.35; P<0.05), and low HDL-C (OR: 0.95 per 1 mg/dl increase; 95%CI: 0.92-0.99; P <0.01) were independent risk factors for CAPs. The prevalence of CAPs was age-dependent, and there was a significantly higher risk in patients aged either 75-84 years or >84 years than in those aged <65 (OR: 7.6; 95%CI: 1.50-38.62, and OR: 32.1; 95%CI: 5.14-200.11, respectively). CONCLUSIONS: Even in patients with ischemic stroke with non-valvular AF, concomitant CAPs should be considered in older individuals and those who have diabetes or low HDL-C.
  • Kosuke Matsuzono, Kohei Furuya, Takafumi Mashiko, Tadashi Ozawa, Kumiko Miura, Masayuki Suzuki, Misato Ozawa, Haruo Shimazaki, Reiji Koide, Ryota Tanaka, Shigeru Fujimoto
    Journal of the neurological sciences 415 116924 - 116924 2020年08月 
    OBJECTIVES: Magnetic resonance angiography (MRA), three-dimensional computed tomography angiography, and cerebral angiography may be used to assess intracranial vertebrobasilar stenosis. However, these examinations cannot be performed at patients' bedsides. Our purpose was to develop a new bedside method to assess intracranial vertebrobasilar arterial stenosis. METHODS: We developed the new method using carotid duplex ultrasonography combined with the head-up test. A total of 141 subjects admitted between June 1, 2017 and March 31, 2019 were enrolled in this study. We calculated vertebral arterial peak systolic velocities (PSVs), end-diastolic velocities (EDVs), and mean velocities (MVs) at 0°, 16°, and 30° head-up angles. Vertebrobasilar arterial stenosis was confirmed using MRA. RESULTS: We excluded 28 subjects and included data for 113 subjects and 226 vessels in the final analysis. Cervical vertebral arterial PSV, EDV, and MV gradually decreased from 0° to 30° only in stenotic intracranial vertebral arteries. Sensitivity (probability of detection) was 75.5% and specificity (true negative rate) was 79.7% when EDV at the 30° head-up angle decreased ≥19.5% from the initial 0° head-up angle. Specificity was better (86.4%; sensitivity: 69.4%) when EDV was <9.1 cm/s at the 30° head-up angle. CONCLUSION: This new method easily detects intracranial vertebrobasilar arterial stenosis.
  • Hikaru Watanabe, Reiji Koide, Misato Yokose Ozawa, Younhee Kim, Kumiko Miura, Tadashi Ozawa, Kosuke Matsuzono, Takafumi Mashiko, Ryota Tanaka, Yusuke Amano, Katsuya Nagatani, Kojiro Sato, Shigeru Fujimoto
    Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology 41 7 e889-e890  2020年08月
  • 高齢社会における脳梗塞の実態と課題
    松薗 構佑, 益子 貴史, 小澤 忠嗣, 三浦 久美子, 嶋崎 晴雄, 小出 玲爾, 田中 亮太, 亀田 知明, 藤本 茂
    日本老年医学会雑誌 57 Suppl. 70 - 70 (一社)日本老年医学会 2020年07月
  • Kosuke Matsuzono, Takafumi Mashiko, Tadashi Ozawa, Kumiko Miura, Masayuki Suzuki, Kohei Furuya, Misato Ozawa, Yuhei Anan, Haruo Shimazaki, Reiji Koide, Ryota Tanaka, Tomoaki Kameda, Shigeru Fujimoto
    Journal of thrombosis and thrombolysis 2020年06月 
    The treatment of ischemic stroke has recently witnessed dramatic developments. However, there are limited data on ischemic stroke characteristics in aged patients. As part of the South Tochigi Acute Ischemic Stroke Registry, we prospectively enrolled 636 consecutive acute ischemic stroke patients (within 7 days after the onset) who were ≥ 60 years of age and who were admitted to two independent institutes from April 1, 2016 to February 28, 2019. We analyzed three groups divided by age: early-aged (60-69 years), middle-aged (70-79 years), and oldest-aged (≥ 80 years). From the 636 subjects, 194 were early-aged, 215 were middle-aged, and 227 were oldest-aged. There were significant differences in the ischemic stroke subtypes in each aging group (p < 0.01). The proportion of cardioembolism was 22.2% in early-aged, 27.4% in middle-aged, and 41.4% in the oldest-aged patients. The proportion of patients with a modified Rankin Scale of 0-2 at 1 year after onset decreased to 42.2% in middle-aged and 17.8% in oldest-aged with cardioembolic ischemic stroke. The proportion of patients receiving anticoagulation therapy before admission was 25.6% (36.7% of atrial fibrillation [AF]) in early-aged, 39.0% (52.3% of AF) in middle-aged, and 18.1% (21.0% of AF) in oldest-aged patients (p < 0.001). Our study reports characteristics of clinical ischemic stroke in an aging population. The assessment of cardiogenic embolism is important for an aging population.
  • Kosuke Matsuzono, Kohei Furuya, Azusa Karube, Akie Horikiri, Tadashi Ozawa, Takafumi Mashiko, Haruo Shimazaki, Reiji Koide, Ryota Tanaka, Shigeru Fujimoto
    Journal of the neurological sciences 411 116708 - 116708 2020年01月 [査読有り][通常論文]
  • Kosuke Matsuzono, Takafumi Mashiko, Tadashi Ozawa, Kumiko Miura, Masayuki Suzuki, Kohei Furuya, Misato Ozawa, Yuhei Anan, Haruo Shimazaki, Reiji Koide, Ryota Tanaka, Shigeru Fujimoto
    Psychiatry and clinical neurosciences 74 4 279 - 280 2020年01月 [査読有り][通常論文]
  • SLEの経過中に可逆性両側内頸動脈病変を呈し脳梗塞に至った46歳女性例
    薄井 美由, 益子 貴史, 鈴木 雅之, 松薗 構佑, 小澤 忠嗣, 三浦 久美子, 嶋崎 晴雄, 小出 玲爾, 田中 亮太, 藤本 茂
    臨床神経学 60 1 80 - 80 (一社)日本神経学会 2020年01月 [査読有り][通常論文]
  • Ozawa T, Tanaka R, Nagaoka R, Anan Y, Kim Y, Matsuzono K, Mashiko T, Koide R, Shimazaki H, Ohtani K, Amano Y, Kawai K, Fujimoto S
    Data in brief 27 104648 - 104648 2019年12月 [査読有り][通常論文]
     
    Data presented in this article are related to our article entitled "Unilateral posterior reversible encephalopathy syndrome: A case report" [1]. Cases of Posterior Reversible Encephalopathy Syndrome (PRES) involving unilateral lesions are very rare. We searched the PubMed database using keywords such as PRES, unilateral, and asymmetric and found a small number of cases to include in our review. We summarized the characteristics of these reported cases of unilateral PRES, including our case.
  • 脳梗塞急性期のLDLコレステロール値とスタチン使用の急性期再発への影響
    横瀬 美里, 三浦 久美子, 古谷 浩平, 鈴木 雅之, 阿南 悠平, 小澤 忠嗣, 松薗 構佑, 益子 貴史, 嶋崎 晴雄, 小出 玲爾, 田中 亮太, 藤本 茂
    臨床神経学 59 Suppl. S250 - S250 (一社)日本神経学会 2019年11月
  • 妊娠中のプロテインS欠乏症に伴い脳静脈洞血栓症を呈した症例の臨床的検討
    薄井 美由, 小澤 忠嗣, 金 蓮姫, 益子 貴史, 松薗 構佑, 丸山 慶子, 小亀 浩市, 小出 玲爾, 藤本 茂
    臨床神経学 59 Suppl. S296 - S296 (一社)日本神経学会 2019年11月
  • 脳梗塞患者における大動脈弓部プラークおよび心房細動と急性期脳卒中再発との関連
    阿南 悠平, 小澤 忠嗣, 横瀬 美里, 古谷 浩平, 鈴木 雅之, 三浦 久美子, 松薗 構佑, 益子 貴史, 嶋崎 晴雄, 小出 玲爾, 田中 亮太, 藤本 茂
    臨床神経学 59 Suppl. S324 - S324 (一社)日本神経学会 2019年11月
  • 脳梗塞急性期のLDLコレステロール値とスタチン使用の急性期再発への影響
    横瀬 美里, 三浦 久美子, 古谷 浩平, 鈴木 雅之, 阿南 悠平, 小澤 忠嗣, 松薗 構佑, 益子 貴史, 嶋崎 晴雄, 小出 玲爾, 田中 亮太, 藤本 茂
    臨床神経学 59 Suppl. S250 - S250 (一社)日本神経学会 2019年11月 [査読有り][通常論文]
  • 妊娠中のプロテインS欠乏症に伴い脳静脈洞血栓症を呈した症例の臨床的検討
    薄井 美由, 小澤 忠嗣, 金 蓮姫, 益子 貴史, 松薗 構佑, 丸山 慶子, 小亀 浩市, 小出 玲爾, 藤本 茂
    臨床神経学 59 Suppl. S296 - S296 (一社)日本神経学会 2019年11月 [査読有り][通常論文]
  • 脳梗塞患者における大動脈弓部プラークおよび心房細動と急性期脳卒中再発との関連
    阿南 悠平, 小澤 忠嗣, 横瀬 美里, 古谷 浩平, 鈴木 雅之, 三浦 久美子, 松薗 構佑, 益子 貴史, 嶋崎 晴雄, 小出 玲爾, 田中 亮太, 藤本 茂
    臨床神経学 59 Suppl. S324 - S324 (一社)日本神経学会 2019年11月 [査読有り][通常論文]
  • 42歳で3回目の再発発作を認めた難治頻回部分発作重積型急性脳炎の女性例
    松薗 構佑, 古谷 浩平, 三浦 久美子, 小澤 忠嗣, 益子 貴史, 嶋崎 晴雄, 小出 玲爾, 田中 亮太, 藤本 茂
    日本老年医学会雑誌 56 4 575 - 575 (一社)日本老年医学会 2019年10月
  • 虚血性脳卒中急性期に治療介入したせん妄及び不眠に関する検討
    松薗 構佑, 益子 貴史, 小澤 忠嗣, 三浦 久美子, 鈴木 雅之, 古谷 浩平, 小澤 美里, 嶋崎 晴雄, 小出 玲爾, 田中 亮太, 藤本 茂
    Dementia Japan 33 4 559 - 559 (一社)日本認知症学会 2019年10月
  • Tadashi Ozawa, Ryota Tanaka, Risa Nagaoka, Yuhei Anan, Younhee Kim, Kosuke Matsuzono, Takafumi Mashiko, Reiji Koide, Haruo Shimazaki, Keisuke Ohtani, Yusuke Amano, Kensuke Kawai, Shigeru Fujimoto
    Clinical neurology and neurosurgery 185 105493 - 105493 2019年10月 [査読有り][通常論文]
  • 破傷風治療中にタコツボ心筋症様の壁運動異常を合併した75歳女性例
    堀切 映江, 松薗 構佑, 古谷 浩平, 小澤 忠嗣, 益子 貴史, 小出 玲爾, 田中 亮太, 藤本 茂
    臨床神経学 59 7 469 - 469 (一社)日本神経学会 2019年07月 [査読有り][通常論文]
  • Miyu Usui, Takafumi Mashiko, Masuko Tsuda, Masayuki Suzuki, Kosuke Matsuzono, Tadashi Ozawa, Yonhee Kim, Haruo Shimazaki, Reiji Koide, Ryota Tanaka, Shigeru Fujimoto
    Journal of stroke and cerebrovascular diseases : the official journal of National Stroke Association 28 7 e98-e99 - e99 2019年07月 [査読有り][通常論文]
     
    Isolated vertigo is an important symptom of posterior circulation stroke. It has been reported that 11.3% of patients with isolated vertigo have a stroke and that most lesions are located in the cerebellum, particularly in the posterior inferior cerebellar artery. We report the case of a 63-year-old man with multiple atherosclerotic risk factors and atrial fibrillation who showed repeated episodes of isolated vertigo. His repeated vertigo was short-lasting and was often triggered by body position, mimicking benign paroxysmal positional vertigo. Cranial computed tomography on the third hospital day showed left cerebellar infarction within the territory of the posterior inferior cerebellar artery. The vertigo was ameliorated on the fifth hospital day and warfarin was prescribed for secondary prevention. Clinicians should pay special attention to cases in which a patient presents isolated vertigo, even if it shows transient recurrence or is triggered by a positional change, especially in patients with multiple cerebrovascular risk factors.
  • Kosuke Matsuzono, Lisa Nagaoka, Masayuki Suzuki, Younhee Kim, Tadashi Ozawa, Takafumi Mashiko, Haruo Shimazaki, Reiji Koide, Shigeru Fujimoto
    Journal of stroke and cerebrovascular diseases : the official journal of National Stroke Association 28 4 e24-e26 - e26 2019年04月 [査読有り][通常論文]
     
    Fatalities following intravenous recombinant tissue-type plasminogen activator therapy have been reported. Major fatal complications following intravenous recombinant tissue-type plasminogen activator therapy include intracranial hemorrhage, aortic dissection, and extracranial bleeding. However, the possibility that intravenous recombinant tissue-type plasminogen activator therapy itself paradoxically induces synchronized multiple cerebral novel infarctions has never been considered. We herein report the first case of bilateral internal carotid artery infarction with onset seizure following intravenous recombinant tissue-type plasminogen activator therapy for a vertebral-basilar artery infarction. A 75-year-old man was transferred to our hospital and diagnosed with acute ischemic stroke in the basilar artery. His National Institute of Health Stroke Scale score was 4. The intravenous recombinant tissue-type plasminogen activator therapy was initiated 234 minutes after stroke onset because no contraindications were present. Almost 2 hours after the intravenous recombinant tissue-type plasminogen activator therapy, the patient suddenly fell into a deep coma with generalized convulsions. A huge secondary infarction was found in the bilateral anterior circulation territories, and he died 7 days after stroke onset. This case alerts clinicians to the possibility of synchronized multiple cerebral infarctions following intravenous recombinant tissue-type plasminogen activator therapy as a dangerous complication in patients with multiple severe stenoses in the cerebral arteries.
  • 片側優位の可逆性後頭葉白質脳症(PRES)の1例
    長岡 理沙, 阿南 悠平, 小澤 忠嗣, 三浦 久美子, 松薗 構佑, 益子 貴史, 小出 玲爾, 田中 亮太, 藤本 茂
    日本内科学会関東地方会 649回 68 - 68 日本内科学会-関東地方会 2019年03月 [査読有り][通常論文]
  • Kosuke Matsuzono, Kohei Furuya, Akie Horikiri, Kumiko Miura, Younhee Kim, Tadashi Ozawa, Takafumi Mashiko, Haruo Shimazaki, Reiji Koide, Ryota Tanaka, Shigeru Fujimoto
    Journal of the neurological sciences 397 31 - 33 2019年02月 [査読有り][通常論文]
  • PLEKHG5遺伝子の複合ヘテロ塩基置換を認めた進行性運動感覚ニューロパチーの孤発例
    嶋崎 晴雄, 古谷 浩平, 横瀬 美里, 鈴木 雅之, 金 蓮姫, 小澤 忠嗣, 松薗 構佑, 益子 貴史, 小出 玲爾, 松浦 徹, 藤本 茂
    臨床神経学 58 Suppl. S270 - S270 (一社)日本神経学会 2018年12月 [査読有り][通常論文]
  • 心停止と呼吸停止を主徴とする孤発性成人発症型ネマリンミオパチーの1例
    八木澤 伯耶, 松薗 構佑, 古谷 浩平, 金 蓮姫, 小澤 忠嗣, 益子 貴史, 小出 玲爾, 田中 亮太, 西野 一三, 藤本 茂
    日本内科学会関東地方会 646回 47 - 47 日本内科学会-関東地方会 2018年11月
  • 鈴木 雅之, 桧垣 鮎帆, 難波 克成, 松薗 構佑, 古谷 浩平, 五十嵐 丈之, 金 蓮姫, 小澤 忠嗣, 益子 貴史, 嶋崎 晴雄, 小出 玲爾, 田中 亮太, 藤本 茂
    神経治療学 35 6 S218 - S218 (一社)日本神経治療学会 2018年11月 [査読有り][通常論文]
  • 嶋崎 晴雄, 益子 貴史, 古谷 浩平, 横瀬 美里, 鈴木 雅之, 金 蓮姫, 小澤 忠嗣, 松薗 構佑, 小出 玲爾, 松浦 徹, 藤本 茂
    神経治療学 35 6 S240 - S240 (一社)日本神経治療学会 2018年11月 [査読有り][通常論文]
  • Kosuke Matsuzono, Masayuki Suzuki, Kohei Furuya, Dan Tomomasa, Younhee Kim, Tadashi Ozawa, Takafumi Mashiko, Haruo Shimazaki, Reiji Koide, Ryota Tanaka, Shigeru Fujimoto
    Journal of the neurological sciences 393 113 - 115 2018年10月 [査読有り][通常論文]
  • 松薗 構佑, 古谷 浩平, 五十嵐 丈之, 八木澤 伯耶, 金 蓮姫, 小澤 忠嗣, 益子 貴史, 嶋崎 晴雄, 小出 玲爾, 田中 亮太, 藤本 茂
    臨床神経生理学 46 5 408 - 408 (一社)日本臨床神経生理学会 2018年10月 [査読有り][通常論文]
  • Misato Yokose, Kohei Furuya, Masayuki Suzuki, Tadashi Ozawa, Younhee Kim, Kumiko Miura, Kosuke Matsuzono, Takafumi Mashiko, Mari Tada, Reiji Koide, Haruo Shimazaki, Tohru Matsuura, Shigeru Fujimoto
    Neuro-ophthalmology (Aeolus Press) 42 5 309 - 311 2018年10月 [査読有り][通常論文]
     
    Vertical gaze palsy is rarely a neurological symptom, although it has been observed in some cases. Here, we report the case of a patient presenting with complete upward and downward gaze palsy. In this case, a small lesion in the left rostral midbrain was observed on diffusion-weighted magnetic resonance (MR) images, and the lesion was considered to cause the ocular symptom. We consider that vertical gaze palsy is an important clue to an accurate topical diagnosis of a brain lesion.
  • 経食道心エコーが診断に有用であった急性期マイナーストローク3症例
    古谷 浩平, 横瀬 美里, 鈴木 雅之, 小澤 忠嗣, 金 蓮姫, 松薗 構佑, 益子 貴史, 嶋崎 晴雄, 小出 玲爾, 藤本 茂
    Neurosonology 31 増刊 85 - 85 (一社)日本脳神経超音波学会 2018年06月
  • 発症から5年後に出現した皮疹により診断に至った神経Sweet病の1例
    塩野谷 匠, 古谷 浩平, 金 蓮姫, 小澤 忠嗣, 松薗 構佑, 益子 貴史, 嶋崎 晴雄, 小出 玲爾, 藤本 茂
    日本内科学会関東地方会 642回 31 - 31 日本内科学会-関東地方会 2018年06月 [査読有り][通常論文]
  • Kosuke Matsuzono, Naoto Arai, Masayuki Suzuki, Younhee Kim, Tadashi Ozawa, Takafumi Mashiko, Haruo Shimazaki, Reiji Koide, Tohru Matsuura, Shigeru Fujimoto
    Journal of stroke and cerebrovascular diseases : the official journal of National Stroke Association 27 6 e110-e112 - e112 2018年06月 [査読有り][通常論文]
     
    Although foam sclerotherapy to varicose veins is now a popular treatment because of its high efficacy and safety, some neurologic complications have recently been reported. Presently, the effectiveness and safety of intravenous recombinant tissue-type plasminogen activator therapy to stroke following foam sclerotherapy remain unclear. Here, we report the case of a 68-year-old woman whose ischemic symptoms following foam sclerotherapy were treated by intravenous recombinant tissue-type plasminogen activator. After she was admitted, the venous thrombosis in her right soleus vein and a patent foramen ovale causing the right-to-left shunt were revealed. Thus, we diagnosed the ischemic symptoms were due to paradoxical embolism following foam sclerotherapy. After intravenous recombinant tissue-type plasminogen activator therapy, there was no complication and the outcome was good. Our case suggests the effectiveness and the safety of intravenous recombinant tissue-type plasminogen activator therapy to paradoxical embolism following foam sclerotherapy.
  • Pure motor isolated finger palsyを呈した脳梗塞の70歳男性例
    平山 果歩, 横瀬 美里, 小澤 忠嗣, 金 蓮姫, 松薗 構佑, 益子 貴史, 小出 玲爾, 嶋崎 晴雄, 松浦 徹, 藤本 茂
    臨床神経学 58 4 249 - 249 (一社)日本神経学会 2018年04月 [査読有り][通常論文]
  • Shiro Matsubara, Kota Bokuda, Yuri Asano, Ryo Morishima, Keizo Sugaya, Kazuhito Miyamoto, Reiji Koide, Takashi Komori, Shigeaki Suzuki, Ichizo Nishino
    Neuromuscular disorders : NMD 28 3 283 - 288 2018年03月 [査読有り][通常論文]
     
    Immune-mediated necrotizing myopathy (IMNM) associated with anti-3-hydroxy-3-methylglutaryl-coenzyme A reductase (HMGCR) autoantibodies occurs in patients both with and without history of statin-intake. The mechanisms of muscle fiber degeneration in this condition remain unknown. We studied pathological changes in muscle biopsies from three patients lacking history of statin-intake. Ultrastructural observations showed accumulation of degenerating mitochondria, glycogen granules and autophagic vacuoles, forming large composites in three cases, along with various nonspecific changes. The autophagic vacuoles often contained remnants of mitochondria, indicating mitophagy. Furthermore, upregulation of B-cell lymphoma 2/adenovirus E1B 19 kD-interacting protein 3 (BNIP3), a protein involved in mitophagy, was observed in two cases examined. In three cases of sporadic inclusion body myositis, two polymyositis, and three IMNM with anti-signal recognition particle antibody, BNIP3 was upregulated less frequently, and ultrastructural change of mitophagy was rarely seen. These findings suggested that mitophagy plays an important role in muscle fiber degeneration in IMNM with anti-HMGCR autoantibodies.
  • 下肢静脈瘤硬化療法に続発した奇異性脳塞栓症に対してrt-PA治療を施行した68歳女性例
    鈴木 雅之, 松薗 構佑, 新井 直人, 金 蓮姫, 小澤 忠嗣, 益子 貴史, 嶋崎 晴雄, 小出 玲爾, 松浦 徹, 藤本 茂
    臨床神経学 58 1 53 - 53 (一社)日本神経学会 2018年01月 [査読有り][通常論文]
  • Ocular flutterが再発の初期徴候であったびまん性大細胞型B細胞性リンパ腫の1例
    黒田 百恵, 古谷 浩平, 金 蓮姫, 小澤 忠嗣, 松薗 構佑, 益子 貴史, 小出 玲爾, 松浦 徹, 翁 家国, 藤本 茂
    日本内科学会関東地方会 638回 40 - 40 日本内科学会-関東地方会 2017年12月 [査読有り][通常論文]
  • 脳虚血症状の出現から2年以内の経過で両側内頸動脈閉塞に至った甲状腺機能亢進症合併類もやもや病の一例
    鈴木 雅之, 松薗 構佑, 金 蓮姫, 小澤 忠嗣, 益子 貴史, 嶋崎 晴雄, 小出 玲爾, 松浦 徹, 藤本 茂
    脳循環代謝 29 1 192 - 192 (一社)日本脳循環代謝学会 2017年11月 [査読有り][通常論文]
  • Kentaro Hayashi, Yoko Mochizuki, Reiji Koide, Akihiro Kawata, Taku Homma, Toshio Shimizu, Takashi Komori, Eiji Isozaki
    NEUROPATHOLOGY 36 6 551 - 555 2016年12月 [査読有り][通常論文]
     
    We describe a Japanese man with familial amyotrophic lateral sclerosis (ALS) associated with a p. Cys146Arg mutation in the copper/zinc superoxide dismutase gene (SOD1). The patient developed bulbar signs followed by rapidly progressive limb muscle weakness. The prominent clinical feature was orthostatic hypotension due to autonomic failure, which occurred after he underwent tracheostomy 1 year and 3 months after the onset. Thereafter, he required mechanical ventilation and progressed to communication stage V (totally locked-in state) 7 years after the onset. Neuropathology showed ALS with posterior column degeneration and multiple system degeneration. Severe neuronal loss in the intermediolateral nucleus was also observed. Two previously reported cases of ALS patients with autonomic failure showed severe neuronal loss in the intermediolateral nucleus in addition to degeneration of the motor neurons. Thus, autonomic failure due to neuronal loss in the intermediolateral nucleus could present in patients with ALS associated with certain mutations in SOD1.
  • Younhee Kim, Yuri Asano, Reiji Koide, Hideki Kimura, Hirotomo Saitsu, Naomichi Matsumoto, Mitsuald Bandoh
    JOURNAL OF THE NEUROLOGICAL SCIENCES 358 1-2 461 - 462 2015年11月 [査読有り][通常論文]
  • Younhee Kim, Reiji Koide, Akihiro Kawata
    Brain and Nerve 67 5 635 - 638 2015年05月 [査読有り][通常論文]
     
    A 37-year-old male patient presented with psychiatric symptoms, dysarthria, limb dystonia, increased tendon reflexes, and a Kayser-Fleischer ring in his late teens. Laboratory examinations showed decreased concentrations of serum copper and ceruloplasmin, and increased urinary copper levels. Magnetic resonance imaging (MRI) showed high-signal-intensity lesions in the bilateral putamen, globus pallidus, thalamus, and brainstem on T< inf> 2< /inf> -weighted images (T< inf> 2< /inf> WI). Based on the MRI results and laboratory data, we diagnosed this patient with Wilson's disease (WD). He was treated with trientine hydrochloride and zinc acetate. Four months after the initiation of treatment, the patient'symptoms began to improve. On a follow-up MRI that was obtained 6 years after treatment, the high-signal-intensity lesions on the T< inf> 2< /inf> WI had disappeared completely. However, the low-signal-intensity lesions in the basal ganglia had spread to the caudate nuclei. Here, we discuss the characteristics of the MRI changes in WD following treatment. The Pathological basis for the low-signal-intensity lesions on T< inf> 2< /inf> WI in WD remains unclear. Our results suggest that this lesion may reflect the accumulation of materials other than copper.
  • Satoshi Nagamine, Shunichi Sakoda, Reiji Koide, Akihiro Kawata, Junhui Yuan, Hiroshi Takashima, Imaharu Nakano
    JOURNAL OF THE NEUROLOGICAL SCIENCES 347 1-2 385 - 386 2014年12月 [査読有り][通常論文]
  • Teppei Komatsu, Toshinori Kimura, Akira Yagishita, Kazushi Takahashi, Reiji Koide
    CLINICAL NEUROLOGY AND NEUROSURGERY 126 96 - 98 2014年11月 [査読有り][通常論文]
  • Yoshiko Inaishi, Mikito Fukumoto, Reiji Koide, Kouichi Kondo, Yasuhiro Nakata, Imaharu Nakano
    CANADIAN JOURNAL OF NEUROLOGICAL SCIENCES 41 6 780 - 781 2014年11月 [査読有り][通常論文]
  • Tadashi Ozawa, Reiji Koide, Yasuhiro Nakata, Hirotomo Saitsu, Naomichi Matsumoto, Kazushi Takahashi, Imaharu Nakano, Satoshi Orimo
    AMERICAN JOURNAL OF MEDICAL GENETICS PART A 164 9 2388 - 2390 2014年09月 [査読有り][通常論文]
     
    Static encephalopathy of childhood with neurodegeneration in adulthood (SENDA) is an X-linked dominant neurodegenerative disorder, and is classified as a subtype of neurodegeneration with brain iron accumulation. Recently, de novo heterozygous mutations in WDR45 at Xp11.23 have been reported in patients with SENDA. We report the clinical and neuroradiological findings of a patient with SENDAwith a novel c.322del mutation in WDR45. In this patient, characteristic MRI findings were useful for diagnosis. (C) 2014 The Authors.
  • Takehiro Uda, Reiji Koide, Hirotaka Ito, Atsushi Hosono, Shigeki Sunaga, Michiharu Morino
    Journal of Neurology 260 1 318 - 320 2013年01月 [査読有り][通常論文]
  • Morita M, Kobayashi J, Yamazaki K, Kawaguchi K, Honda A, Sugai K, Shimozawa N, Koide R, Imanaka T
    JIMD reports 10 95 - 102 2013年 [査読有り][通常論文]
  • Teppei Komatsu, Kota Bokuda, Toshio Shimizu, Tetsuo Komori, Reiji Koide
    Case reports in neurological medicine 2013 369278 - 369278 2013年 [査読有り][通常論文]
     
    Lambert-Eaton myasthenic syndrome (LEMS) is a rare presynaptic disorder of the neuromuscular junction in association with cancer and subsequently in cases in which no neoplasm has been detected (O'Neill et al., 1988). The diagnosis of LEMS is based on the combination of fluctuating muscle weakness, diminished or absent reflexes, and a more than 60% increment of compound muscle action potential (CMAP) amplitude after brief exercise or 50 Hz stimulation for 1 s in a repetitive nerve stimulation (RNS) test (Oh et al., 2005). On the other hand, needle electromyography (EMG) findings related to LEMS have not been well described. Here, we report a case of LEMS, which showed apparent myopathic changes in needle EMG findings. Furthermore, we retrospectively examined the needle EMG findings in 8 patients with LEMS. In six of the 8 patients, the EMG findings showed myopathy-like findings. Although the findings of needle EMG indicated myopathic changes at a glance, the motor unit potential (MUP) returned to normal after a sustained strong muscle contraction. We propose the name "pseudomyopathic changes" for this phenomenon.
  • Reiji Koide, Mitsuaki Bandoh
    Journal of Neuropsychiatry and Clinical Neurosciences 25 3 E41 - E42 2013年 [査読有り][通常論文]
  • Junpei Kobayashi, Masatoshi Kuroda, Akihiro Kawata, Yoko Mochizuki, Toshio Mizutani, Takashi Komori, Takeshi Ikeuchi, Reiji Koide
    AMYOTROPHIC LATERAL SCLEROSIS 13 6 570 - 572 2012年10月 [査読有り][通常論文]
     
    We report a novel missense mutation (G37V) in exon 2 of the superoxide dismutase-1 gene in a 63-years-old Japanese male with purely lower motor neuron disease. His disease duration was 14 months, and he died of respiratory failure. The disease in this patient with the G37V mutation showed a rapid progression, although patients with G37R mutation are known to have a long survival.
  • Akinori Uruha, Yu Kitazawa, Masatoshi Kuroda, Keiko Tanaka, Reiji Koide
    CLINICAL NEUROLOGY AND NEUROSURGERY 114 3 260 - 261 2012年04月 [査読有り][通常論文]
  • Streptococcus bovisによる細菌性髄膜炎の1例
    林 健太郎, 北澤 悠, 菅谷 慶三, 小出 玲爾
    NEUROINFECTION 16 2 170 - 170 日本神経感染症学会 2011年10月
  • Akinori Uruha, Reiji Koide, Makoto Taniguchi
    JOURNAL OF NEUROIMAGING 21 2 e180 - e182 2011年04月 [査読有り][通常論文]
     
    We present a patient with sarcoidosis with an isolated intraparenchymal mass lesion that was similar to a glioma on magnetic resonance imaging. On fluid-attenuated inversion recovery images, a small hyperintense signal change in the right uncus was observed. Three months later, enlargement of the abnormal signal lesion was observed. An initial diagnosis of glioma was made. A biopsy of the temporal lobe tumor was done. On histology, a noncaseating granulomatous inflammation consistent with neurosarcoidosis was diagnosed. Albeit rarely, we should consider the possibility of neurosarcoidosis in the differential diagnosis of isolated intraparenchymal mass lesion, when the mass is located beside the pia mater.
  • Junpei Kobayashi, Yasuko Nakagawa, Shinsuke Tobisawa, Eiji Isozaki, Reiji Koide
    JOURNAL OF NEUROLOGY 258 4 699 - 701 2011年04月 [査読有り][通常論文]
  • Y. Sunami, R. Koide, N. Arai, M. Yamada, T. Mizutani, K. Oyanagi
    AMERICAN JOURNAL OF NEURORADIOLOGY 32 1 109 - 114 2011年01月 [査読有り][通常論文]
     
    We describe the cases of 2 patients, a father and his son, with DRPLA who underwent MR examinations prior to death and in whom postmortem examinations of the brain were obtained. MR imaging findings had the following features: 1) atrophy of the cerebellum and brain stem were the common findings, 2) high-signal-intensity lesions in the cerebral white matter and brain stem were observed on T2-weighted images in the patient with adult-onset DRPLA, 3) signal-intensity changes in the cerebral white matter were restricted to the periventricular white matter in the patient with juvenile-onset DRPLA, but these changes appear in the advanced stage, and 4) progressive cerebral atrophy was more marked in the patient with juvenile-onset DRPLA. In the patients with DRPLA, the abnormal high signal intensity of the cerebral white matter or brain stem on MR images reflect the loss of myelinated fibers. Cerebral atrophy mainly reflects atrophy of the neuropile.
  • Akinori Uruha, Reiji Koide, Mitsuaki Bandoh, Eiji Isozaki, Hiroshi Yoshida
    NEURO-OPHTHALMOLOGY 34 4 308 - 310 2010年08月 [査読有り][通常論文]
     
    Hypertrophic cranial pachymeningitis is a rare inflammatory disease characterised by localised or diffuse thickening of the dura mater. We report a 68-year-old woman with hypertrophic cranial pachymeningitis presenting with subacute progressive bilateral visual loss and left abducens nerve palsy. On repeat fundoscopy, no remarkable findings were found, the patient was referred to our hospital 2 months after the onset of the ocular manifestations. Magnetic resonance imaging revealed thickening of the dura mater in the middle and anterior cranial fossae, which extended bilaterally to the vicinity of the optic canals and the superior orbital fissures. On immunological testing, elevated titres for antineutrophil cytoplasmic antibody for myeloperoxidase were found. The patient was immediately treated with high-dose methylprednisolone. After treatment, visual loss in the right eye and the left abducens nerve palsy improved significantly, but visual loss in the left eye remained unchanged. Careful systemic and radiological observations may be required when ophthalmic manifestations are seen in patients with positive antineutrophil cytoplasmic antibody for myeloperoxidase. The early initiation of treatment could prevent permanent damage to the optic nerve.
  • Reiji Koide, Akinori Uruha, Mitsuaki Bandoh
    Brain and Nerve 61 9 1075 - 1077 2009年09月 [査読有り][通常論文]
     
    We present the case of a patient with pure alexia due to a restricted lesion in the left fusiform gyrus. A 59-year-old right-handed female, with a 7-year history of rheumatoid hypertrophic pachymeningitis suddenly developed reading and writing difficulties. Neuropsychological examinations revealed the presence of alexia for both Japanese kanji (morphograms) and kana (phonograms) mild agraphia predominantly for kanji and word-finding difficulty. Brain magnetic resonance imaging (MRI) revealed a high signal intensity lesion in the left fusiform gyrus on fluid attenuated inversion recovery (FLAIR) images in addition to marked thickness of the left cerebellar tentorium on contrast-enhanced T1-weighted images. The abnormal intensity lesion in the left fusiform gyrus was recognized as representing a cerebral edematous change due to venous insufficiency associated with dural thickness. After high-dose methyl-prednisolone therapy, there was a rapid improvement in the reading and writing abilities of the patient, and 5 days later all the symptoms had disappeared. Three months later, a repeat MRI showed that the abnormal intensity lesion in the left fusiform gyrus had disappeared completely. The present case suggests that damage to the left fusiform gyrus alone can cause pure alexia and mild agraphia. Furthermore, this case raises the possibility that the fusiform gyrus is a part of the writing center.
  • Reiji Koide, Ayako Isoo, Kazuhiko Ishii, Akinori Uruha, Mitsuaki Bandoh
    CLINICAL RHEUMATOLOGY 28 9 1117 - 1119 2009年09月 [査読有り][通常論文]
     
    Rheumatoid leptomeningitis is a rare complication of rheumatoid arthritis (RA). We describe a woman with rheumatoid leptomeningitis presenting with acute-onset behavioral changes and consciousness disturbance in the early stage of RA. On fluid-attenuated inversion recovery images or diffusion-weighted images, high-signal-intensity lesions in the subarachnoid spaces of the right frontal lobe were observed. Biopsies of brain tissues and the dura mater located in the right frontal lobe were obtained. On the basis of the findings of histopathological analysis, a diagnosis of necrotizing granulomas involving the leptomeninges consistent with rheumatoid leptomeningitis was made. An early diagnosis of rheumatoid leptomeningitis and immediate initiation of treatment may prevent neurological sequelae.
  • Koide R
    Nihon Naika Gakkai zasshi. The Journal of the Japanese Society of Internal Medicine 97 8 1851 - 1854 2008年08月 [査読有り][通常論文]
  • Ono S, Koide R, Warabi Y, Yagishita A, Yoshida H
    Brain and nerve = Shinkei kenkyu no shinpo 59 12 1390 - 1391 2007年12月 [査読有り][通常論文]
  • Hiroaki Nozaki, Takeshi Ikeuchi, Akio Kawakami, Akio Kimura, Reiji Koide, Miyuki Tsuchiya, Yuusaku Nakmura, Tatsuro Mutoh, Hiroko Yamamoto, Naoki Nakao, Ko Sahashi, Masatoyo Nishizawa, Osamu Onodera
    MOVEMENT DISORDERS 22 6 857 - 862 2007年04月 [査読有り][通常論文]
     
    Autosomal dominant spinocerebellar ataxias (AD-SCAs) form a clinically and genetically heterogeneous group of neurodegenerative disorders. Recently, a single nucleotide substitution in the 5'-untranstated region of the puratrophin-1 gene was found to be associated with one type of AD-SCA linked to chromosome 16q (16q-SCA). To obtain further insight into the contribution of the C-to-T substitution in the puratrophin-1 gene to the clinical and genetic characteristics of patients with 16q-SCA, we analyzed 686 families with 719 individuals diagnosed with progressive ataxia. We found C-to-T substitution in the puratrophin-1 gene in 57 unrelated families with 65 affected individuals. The mean age at onset in the patients with 16q-SCA was 59.1 (range, 46-77). Ataxia is the most common initial symptom. The elderly patients over 65 occasionally showed other accompanying clinical features including abnormalities in tendon reflexes, involuntary movements, and reduced vibration sense. We also examined the frequency of the AD-SCA subtype, considering the effects of age at onset. In the 686 AD-SCA families, SCA6 and Machado-Joseph disease/ SCA3 are frequent subtypes, followed by dentatorubral-pallidoluysian atrophy and 16q-SCA. 16q-SCA is not a rare subtype of Japanese AD-SCA, particularly in patients with ages at onset over 60. (c) 2007 Movement Disorder Society.
  • Dai Agari, Reiji Koide, Tetsuya Kashiyama, Hiroshi Yoshida, Rie Naito, Mitsuaki Bandoh
    LANCET 369 9564 878 - 878 2007年03月 [査読有り][通常論文]
  • Dai Agari, Reiji Koide, Tetsuya Kashiyama, Hiroshi Yoshida, Rie Naito, Mitsuaki Bandoh
    LANCET 369 9564 878 - 878 2007年03月 [査読有り][通常論文]
  • Josep Dalmau, Erdem Tuzun, Hai-yan Wu, Jaime Masjuan, Jeffrey E. Rossi, Alfredo Voloschin, Joachim M. Baehring, Haruo Shimazaki, Rej Koide, Dale King, Warren Mason, Lauren H. Sansing, Marc A. Dichter, Myrna R. Rosenfeld, David R. Lynch
    ANNALS OF NEUROLOGY 61 1 25 - 36 2007年01月 [査読有り][通常論文]
     
    Objective: To report the autoantigens of a new category of treatment-responsive paraneoplastic encephalitis. Methods: Analysis of clinical features, neuropathological findings, tumors, and serum/cerebrospinal fluid antibodies using rat tissue, neuronal cultures, and HEK293 cells expressing subunits of the N-methyl-D-aspartate receptor (NMDAR). Results: Twelve women (14-44 years) developed prominent psychiatric symptoms, amnesia, seizures, frequent dyskinesias, autonomic dysfunction, and decreased level of consciousness often requiring ventilatory support. All had serum/cerebrospinal fluid antibodies that predominantly immunolabeled the neuropil of hippocampus/forebrain, in particular the cell surface of hippocampal neurons, and reacted with NR2B (and to a lesser extent NR2A) subunits of the NMDAR. NR2B binds glutamate and forms hereromers (NR1/NR2B or NR1 /NR2A/NR2B) that are preferentially expressed in the adult hippocampus/forebrain. Expression of functional heteromers (not single subunits) was required for antibody binding. Eleven patients had teratoma of the ovary (six mature) and one a mature teratoma in the mediastinum; five of five tumors examined contained nervous tissue that strongly expressed NR2 subunits and reacted with patients' antibodies. Tumor resection and immunorherapy resulted in improvement or full recovery of eight of nine patients (paralleled by decreased antibody titers); two of three patients without tumor resection died of neurological deterioration. Autopsies showed extensive microgliosis, rare T-cell infiltrates, and neuronal degeneration predominantly, involving, but not restricted to, the hippocampus. Interpretation: Antibodies to NR2B- and NR2A-containing heteromers of the NMDAR associate with a severe but treatment-responsive encephalitis. Our findings provide a diagnostic test and suggest a model of autoimmune NMDAR-related encephalitis with broad implications for other immune-mediated disorders of memory, behavior, and cognition.
  • Reiji Koide, Toshio Shimizu, Kazunori Koike, Josep Dalmau
    JOURNAL OF NEURO-ONCOLOGY 81 1 71 - 74 2007年01月 [査読有り][通常論文]
     
    We describe a 19-year-old patient with paraneoplastic encephalitis associated with immature ovarian teratoma (OT), who presented with psychiatric symptoms, prolonged disturbance of consciousness, refractory status epilepticus, central hypoventilation, and various abnormal involuntary movements. Immunological characterization of the patient's serum and cerebrospinal fluid (CSF) demonstrated the presence of an autoantibody that colocalized with EFA6A, a brain-specific protein involved in the regulation of dendritic development of hippocampal neurons. Despite the severity of the symptoms, the patient showed significant neurological improvement following removal of the tumor and chemotherapy. This case suggests that physicians should rule out an OT in young women with encephalitis who present with the subacute-onset of psychiatric symptoms. Antibodies that colocalize with EFA6A are a valuable marker for early diagnosis of a potentially reversible paraneoplastic encephalitis associated with OT.
  • R Koide, M Sakamoto, K Tanaka, H Hayashi
    JOURNAL OF NEURO-OPHTHALMOLOGY 24 3 273 - 273 2004年09月 [査読有り][通常論文]
  • Masahiro Suzuki, Reiji Koide, Yasuhiro Kagamihara, Akira Yagishita, Hideaki Hayashi
    Brain and Nerve 56 1 77 - 81 2004年01月 [査読有り][通常論文]
     
    We report a 54-year-old female with rheumatoid factor-positive hypertrophic cranial pachymeningitis. At age of 51 years she developed headache, hearing loss, right vagal nerve palsy, and right accessory nerve palsy. MRI revealed thickening and gadolinium-enhancement of the cranial dura mater. The initial symptoms significantly improved with corticosteroid therapy. Two years later, she presented with severe headache and neck pain. Although gadolinium-enhanced MR images failed to show any change compared with those before recurrence, 201Tl single-photon emission CT(SPECT) showed a remarkable accumulation of thallium-201 in the dura mater. Furthermore, the abnormal uptake of thallium-201 returned to normal after treatment with corticosteroid. 201Tl-SPECT was a useful tool for the evaluation of disease activity in the patient with hypertrophic pachymeningitis.
  • Reiji Koide, Makoto Taniguchi, Yoshino Ueki, Eiji Isozaki, Hideaki Hayashi
    Brain and Nerve 55 5 443 - 447 2003年05月 [査読有り][通常論文]
     
    An 81-year-old woman was admitted to our service because of high fever and severe lumbar pain. Neurological examination showed a nuchal stiffness and sensory disturbance of the lower extremities. CSF findings showed significantly elevated neutrophils and decreased glucose. MRI demonstrated intradural and epidural abscesses within the lumbar canal. In early stages of the disease, we unexpectedly found the elevated serum CEA and CA19-9. Although those tumor markers showed very high titers, we never found any evidence of the malignant tumor. Interestingly, those markers obviously decreased with the improvement of the abscess within the lumbar canal. We discussed the importance of CEA and CA19-9 in the infectious neurological diseases.
  • Koide R
    No to shinkei = Brain and nerve 55 4 374 - 375 2003年04月 [査読有り][通常論文]
  • Tuchiya K, Koide R, Nakauchi J, Ide K, Sato M, Isozaki E, Hirai S
    No to shinkei = Brain and nerve 54 10 912 - 913 2002年10月 [査読有り][通常論文]
  • Y Ueki, E Isozaki, Y Miyazaki, R Koide, T Shimizu, K Yagi, S Hirai
    ACTA NEUROLOGICA SCANDINAVICA 106 2 113 - 116 2002年08月 [査読有り][通常論文]
     
    We report two patients with chronic acquired hepatocerebral degeneration (CAHD) who showed neurological and radiological improvement after the administration of branched-chain amino acids (BAA). The first patient with chronic hepatitis C presented with progressive parkinsonism for 7 months, whereas the second patient with liver cirrhosis presented with progressive ataxia for 15 months. T1-weighted magnetic resonance imaging (MRI) showed symmetric high intensity signals in the lenticular nuclei in both patients. In the first patient, single photon emission computed tomography ( SPECT) disclosed a marked decrease in cerebral blood flow in the parieto-occipital regions. In the second patient, T2-weighted MRI demonstrated symmetric high intensity signals in the deep cerebral and cerebellar white matter. After the administration of BAA, their neurological signs and radiological abnormalities markedly improved in both patients. CAHD might be a reversible and treatable disorder where aromatic amino acids are deeply involved in its pathogenesis.
  • Toyoshima, I, M Sugawara, K Kato, C Wada, T Shimohata, R Koide, O Onodera, S Tsuji
    JOURNAL OF NEUROSCIENCE RESEARCH 68 4 442 - 448 2002年05月 [査読有り][通常論文]
     
    Polyglutamine (polyQ) aggregate bodies are a hallmark of dentatorubral-pallidoluysian atrophy and related neurodegenerative disorders, although the relationship between aggregate body formation and cell death is not clear. We analyzed the kinetics of polyQ aggregate formation and the time intervals for cell death, tracking individual cells using fluorescence video microscopy, for the first time. Expanded polyQ tracts of atrophin-1 with or without nuclear localization signal (NLS) labeled with green fluorescent protein (GFP) were constructed, Q57NLS/GFP and Q56/GFP, respectively. All of the Q57NLS/GFP aggregate bodies were in nuclei, and all of the Q56/GFP aggregate bodies were in cytoplasm. Aggregates of Q56/GFP were larger than those of Q57NLS/ GFP. Surprisingly, a kinetic analysis showed that the latter grew 5.37 times faster than the former. The time interval between transfection and cell death was shorter in Q57NLS/GFP, but the time between the end of the rapid growing phase of aggregation and the start of the cell death process did not show a significant difference. Aggregate growth was confirmed to correspond to the accumulated free polyQ by the time of starting aggregation. These findings suggest that aggregate body formation induced by expanded polyQ stretches is a self-limiting process and is enhanced by factor(s) in nuclei, whereas it is not tightly bound to the cell death process. (C) 2002 Wiley-Liss,
  • Silveira, I, C Miranda, L Guimaraes, MC Moreira, Alonso, I, P Mendonca, A Ferro, J Pinto-Basto, J Coelho, F Ferreirinha, J Poirier, E Parreira, J Vale, C Januario, C Barbot, A Tuna, J Barros, R Koide, S Tsuji, SE Holmes, RL Margolis, L Jardim, M Pandolfo, P Coutinho, J Sequeiros
    ARCHIVES OF NEUROLOGY 59 4 623 - 629 2002年04月 [査読有り][通常論文]
     
    Background: Ten neurodegenerative disorders characterized by spinocerebellar ataxia (SCA) are known to be caused by trinucleotide repeat (TNR) expansions. However, in some instances the molecular diagnosis is considered indeterminate because of the overlap between normal and affected allele ranges. In addition, the mechanism that generates expanded alleles is not completely understood. Objective: To examine the clinical and molecular characteristics of a large group of Portuguese and Brazilian families with ataxia to improve knowledge of the molecular diagnosis of SCA. Patients and Methods: We have (1) assessed repeat sizes at all known TNR loci implicated in SCA; (2) determined frequency distributions of normal alleles and expansions; and (3) looked at genotype-phenotype correlations in 202 unrelated Portuguese and Brazilian patients with SCA. Molecular analysis of TNR expansions was performed using polymerase chain reaction amplification. Results: Patients from 110 unrelated families with SCA showed TNR expansions at 1 of the loci studied. Dominantly transmitted cases had (CAG)(n) expansions at the Machado-Joseph disease gene (MJD1) (63%), at SCA2 (3%), the gene for dentatorubropallidoluysian atrophy (DRPLA) (2%), SCA6 (1%), or SCA7 (1%) loci, or (CTG)(n) expansions at the SCA8 (2%) gene, whereas (GAA)(n) expansions in the Freidreich ataxia gene (FRDA) were found in 64% of families with recessive ataxia. Isolated patients also had TNR expansions at the MJD1 (6%), SCA8 (6%), or FRDA (8%) genes; in addition, an expanded allele at the TATA-binding protein gene (TBP), with 43 CAGs, was present in a patient with ataxia and mental deterioration. Associations between frequencies of SCA2 and SCA6 and a frequency of large normal alleles were found in Portuguese and Brazilian individuals, respectively. Interestingly, no association between the frequencies of DRPLA and large normal alleles was found in the Portuguese group. Conclusions: Our results show that (1) a significant number of isolated cases of ataxia are due to TNR expansions; (2) expanded DRPLA alleles in Portuguese families may have evolved from an ancestral haplotype; and (3) small (CAG), expansions at the TBP gene may cause SCA17.
  • Koide R
    No to shinkei = Brain and nerve 54 1 64 - 65 2002年01月 [査読有り][通常論文]
  • R. Koide, M. Bandoh, E. Isozaki, S. Hirai
    Brain and Nerve 53 6 575 - 579 2001年 [査読有り][通常論文]
     
    We report a 74-year-old right-handed man with visual agnosia for picture due to right occipital lobe infarction. The patient had a remarkable impairment in visual recognition for standardized pictures made by Snodgrass and Vanderwart, in addition to left hemianopsia, left visuospatial neglect, and mild prosopagnosia. The visual agnosia for picture was generally recognized as a mild-type of the visual object agnosia, which was extremely rare in the patients with right occipital lesion. We discussed the mechanism of the visual agnosia in the right occipital lesion. Therefore, it raises the possibility that the broad impairment of the right occipital artery territory including parahippocampal gyrus as well as corpus callosum can cause the visual agnosia for picture.
  • T Shimohata, T Nakajima, M Yamada, C Uchida, O Onodera, S Naruse, T Kimura, R Koide, K Nozaki, Y Sano, H Ishiguro, K Sakoe, T Ooshima, A Sato, T Ikeuchi, M Oyake, T Sato, Y Aoyagi, Hozumi, I, T Nagatsu, Y Takiyama, M Nishizawa, J Goto, Kanazawa, I, Davidson, I, N Tanese, H Takahashi, S Tsuji
    NATURE GENETICS 26 1 29 - 36 2000年09月 [査読有り][通常論文]
     
    At least eight inherited neurodegenerative diseases are caused by expanded CAG repeats encoding polyglutamine (polyQ) stretches. Although cytotoxicities of expanded polyQ stretches are implicated, the molecular mechanisms of neurodegeneration remain unclear. We found that expanded! polyQ stretches preferentially bind to TAF(II)130, a coactivator involved in cAMP-responsive element binding protein (CREB)-dependent transcriptional activation, and strongly suppress CREB-dependent transcriptional activation. The suppression of CREB-dependent transcription and the cell death induced by polyQ stretches were restored by the co-expression of TAF(II)130. Our results indicate that interference of transcription by the binding of TAF(II)130 with expanded polyQ stretches is involved in the pathogenetic mechanisms underlying neurodegeneration.
  • K Wakabayashi, T Fukushima, R Koide, Y Horikawa, M Hasegawa, Y Watanabe, T Noda, Eguchi, I, T Morita, M Yoshimoto, T Iwatsubo, H Takahashi
    ACTA NEUROPATHOLOGICA 99 3 331 - 336 2000年03月 [査読有り][通常論文]
     
    We describe an unusual case of Hallervorden-Spatz disease (HSD). After presenting with limb rigidospasticity at the age of 9 years, our patient developed progressive dementia, spastic tetraparesis and myoclonic movements, leading to akinetic mutism. He died of pneumonia at the age of 39 years. Autopsy revealed a severely atrophic brain, weighing 510 g. Histologically, there were iron deposits in the globus pallidus and substantia nigra pars reticulata, and numerous axonal spheroids throughout out the brain and spinal cord. Neurofibrillary tangles were abundant in the hippocampus, cerebral neocortex, basal ganglia and brain stem. Neuritic plaques and amyloid deposits were absent. Lewy bodies and Lewy neurites, which were immunolabeled by anti-alpha-synuclein, were found in the brain stem, cerebral cortex and spinal gray matter. Sarkosyl-insoluble tau extracted from the temporal cortex resolved on immunoblots into three major bands of 60, 64 and 68 kDa and a minor band of 72 kDa, as reported for Alzheimer's disease. The present case, together with a few similar cases reported previously, may represent a particular subset of neuroaxonal dystrophy, i.e., HSD associated with extensive accumulation of both tau and alpha-synuclein.
  • M. Mitani, K. Jinnai, K. Takahashi, R. Koide, S. Tsuji
    Clinical Neurology 40 6 600 - 604 2000年 [査読有り][通常論文]
     
    We report a case of NARP with a T-to-C point mutation at nt 8993 of mitochondrial DNA. A 37-year old man with mild mental retardation, retinitis pigmentosa, and clonic-tonic seizure was admitted to our hospital. The neurological examination revealed scanning speech, dystonic neck turning to the left side, and pyramidal tract signs. Serum-, CSF-lactate and pyruvate level were slightly elevated. Brain MRI findings showed cerebral atrophy, cerebellar cortical atrophy accompanied with dilation of forth ventricle, and high intensity lesions in the bilateral lenticular nuclei on T2 weighted images. Nucleotide sequence analysis of the mitochondrial DNA in the leukocytes demonstrated a T-to-C point mutation at nt 8993. To our knowledge, this is the first report of a Japanese patient with NARP associated with the T-to-C mutation at nt 8993 of mt DNA. Mitochondrial DNA analysis should be considered in the differential diagnosis of patients with retinitis pigmentosa and various neurological signs.
  • K Wakabayashi, M Yoshimoto, T Fukushima, R Koide, Y Horikawa, T Morita, H Takahashi
    NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY 25 5 363 - 368 1999年10月 [査読有り][通常論文]
     
    alpha-Synuclein (originally called precursor of the non-A beta component of Alzheimer's disease amyloid-NACP) is a presynaptic nerve terminal protein and is now known to be a major component of Lewy bodies (LBs) in Parkinson's disease. Previous studies have shown that LBs are occasionally found in patients with Hallervorden-Spatz disease (HSD), a hereditary or sporadic neuroaxonal dystrophy. Therefore, an immunocytochemical examination of the brain tissues from two patients with HSD for alpha-synuclein/NACP was performed. In both cases, LBs were observed in the substantia nigra, locus ceruleus and other subcortical nuclei. These LBs were strongly immunolabelled with anti-alpha-synuclein/NACP. Moreover, abnormal alpha-synuclein/ NACP-immunoreactive structures in the neuronal somata and processes were found in the cerebral neocortex, hippocampus, basal ganglia, thalamus, pontine and inferior olivary nuclei, spinal grey matter, and peripheral sympathetic ganglia. Although numerous dystrophic axons (spheroids) were found throughout the brain, either none or only a few were positive for alpha-synuclein/NACP. These findings suggest that widespread accumulation of alpha-synuclein/NACP is a pathological feature in patients suffering from HSD with LBs, and that this phenomenon is unrelated to axonal spheroid formation.
  • R Koide, S Kobayashi, T Shimohata, T Ikeuchi, M Maruyama, M Saito, M Yamada, H Takahashi, S Tsuji
    HUMAN MOLECULAR GENETICS 8 11 2047 - 2053 1999年10月 [査読有り][通常論文]
     
    To investigate whether the expansion of CAG repeats of the TATA-binding protein (TBP) gene is involved in the pathogenesis of neurodegenerative diseases, we have screened 118 patients with various forms of neurological disease and identified a sporadic-onset patient with unique neurologic symptoms consisting of ataxia and intellectual deterioration associated with de novo expansion of the CAG repeat of the TBP gene, The mutant TBP with an expanded polyglutamine stretch (63 glutamines) was demonstrated to be expressed in lymphoblastoid cell lines at a level comparable with that of wild-type TBP, The CAG repeat of the TBP gene consists of impure CAG repeat and the de novo expansion involves partial duplication of the CAG repeat. The present study provides new insights into sporadic-onset trinucleotide repeat diseases that involve de novo CAG repeat expansion.
  • T Ikeuchi, T Shimohata, R Nakano, R Koide, H Takano, S Tsuji
    NEUROGENETICS 2 3 189 - 190 1999年09月 [査読有り][通常論文]
  • T Ozawa, H Takano, O Onodera, H Kobayashi, T Ikeuchi, R Koide, K Okuizumi, T Shimohata, K Wakabayashi, H Takahashi, S Tsuji
    NEUROSCIENCE LETTERS 270 2 110 - 112 1999年07月 [査読有り][通常論文]
     
    To determine whether mutations in the coding region of the alpha-synuclein gene are relevant in cases of multiple system atrophy (MSA), detailed nucleotide sequence analysis of the alpha-synuclein gene was performed using total RNA obtained from autopsied brain specimens of 11 pathologically confirmed cases of MSA. The brain specimens used in this study contained both gray and white matter, which were dissected from the frontal, temporal or occipital lobe. No nucleotide alterations were found in the entire coding region of the alpha-synuclein gene in any of the cases. While mutations In the regulatory or intronic regions of the gene were not ruled out, our results suggest that mutations in the coding region of the alpha-synuclein gene are unlikely to contribute to the pathogenesis of MSA. (C) 1999 Elsevier Science ireland ltd. All rights reserved.
  • A Sato, T Shimohata, R Koide, H Takano, T Sato, M Oyake, S Igarashi, K Tanaka, T Inuzuka, H Nawa, S Tsuji
    HUMAN MOLECULAR GENETICS 8 6 997 - 1006 1999年06月 [査読有り][通常論文]
     
    To investigate the molecular mechanisms of neuro- degeneration caused by expanded CAG repeats in dentatorubral-pallidoluysian atrophy (DRPLA), an autosomal dominant neurodegenerative disorder caused by unstable expansion of a CAG trinucleotide repeat in the DRPLA gene on 12p13.31, we established an efficient expression system for truncated and full-length DRPLA proteins with normal or expanded polyglutamine stretches in neuronally differentiated PC12 cells and fibroblasts using an adenovirus expression system. Although aggregate body formation was observed both in neuronally differentiated PC12 cells and in fibroblasts expressing truncated DRPLA proteins with Q82, >97% (n = 3) of neuronally differentiated PC12 cells showed intranuclear inclusions, while only 31 +/- 21% (n = 3) of fibroblasts had intranuclear inclusions at 3 days after infection. The percentage of apoptotic cells was significantly higher in neuronally differentiated PC12 cells expressing the truncated DRPLA protein with Q82 than in fibroblasts, suggesting the possibility that intranuclear aggregate bodies are formed preferentially in neuronally differentiated PC12 cells and that these cells are more vulnerable than fibroblasts to the toxic effects of expanded polyglutamine stretches in the DRPLA protein. When the full-length DRPLA protein with Q82 was expressed, aggregate bodies were found exclusively in the nuclei of the neuronally differentiated PC12 cells, while they were found in the cytoplasm of fibroblasts. Despite the presence of aggregate bodies, apoptosis was not induced by expression of the full-length DRPLA protein with Q82 in either neuronally differentiated PC12 cells or fibroblasts, suggesting that the presence of intranuclear aggregate bodies is in itself not necessarily toxic to cells.
  • Sato A, Shimohata T, Koide R, Takano H, Sato T, Oyake M, Igarashi S, Tanaka K, Takashi I, Nawa H, Tsuji S
    NEUROLOGY 52 6 A114 - A115 1999年04月 [査読有り][通常論文]
  • Toshiya Sato, Mutsuo Oyake, Kenji Nakamura, Kazuki Nakao, Yoshimitsu Fukusima, Osamu Onodera, Shuichi Igarashi, Hiroki Takano, Koki Kikugawa, Yoshinori Ishida, Takayoshi Shimohata, Reiji Koide, Takeshi Ikeuchi, Hajime Tanaka, Naonobu Futamura, Ryusuke Matsumura, Tetsuya Takayanagi, Fumiaki Tanaka, Gen Sobue, Osamu Komure, Mie Takahashi, Akira Sano, Yaeko Ichikawa, Jun Goto, Ichiro Kanazawa, Motoya Katsuki, Shoji Tsuji
    Human Molecular Genetics 8 1 99 - 106 1999年 [査読有り][通常論文]
     
    Dentatorubral-pallidoluysian atrophy (DRPLA) is one among an increasing number of hereditary neurodegenerative diseases determined as being caused by unstable expansion of CAG repeats coding for polyglutamine stretches. To investigate the molecular mechanisms underlying CAG repeat instability, we established three transgenic lines each harboring a single copy of a full-length human mutant DRPLA gene carrying a CAG repeat expansion. These transgenic mice exhibited an age-dependent increase (+0.31 per year) in male transmission and an age-dependent contraction (-1.21 per year) in female transmission. Similar tendencies in intergenerational instabilities were also observed in human DRPLA parent-offspring pairs. The intergenerational instabilities of the CAG repeats may be interpreted as being derived from the instability occurring during continuous cell division of spermatogonia in the male, and that occurring during the period of meiotic arrest in the female. The transgenic mice also exhibited an age-dependent increase in the degree of somatic mosaicism which occurred in a cell lineage-dependent manner, with the size range of CAG repeats being smaller in the cerebellum than in other tissues including the cerebrum, consistent with observations in autopsied tissues of DRPLA patients. Thus, the transgenic mice described in this study exhibited age-dependent intergenerational as well as somatic instabilities of expanded CAG repeats comparable with those observed in human DRPLA patients, and are therefore expected to serve as good models for investigating the molecular mechanisms of instabilities of CAG repeats.
  • Y Hayashi, A Kakita, M Yamada, R Koide, S Igarashi, H Takano, T Ikeuchi, K Wakabayashi, S Egawa, S Tsuji, H Takahashi
    ACTA NEUROPATHOLOGICA 96 6 547 - 552 1998年12月 [査読有り][通常論文]
     
    `We examined the brains and spinal cords of seven patients with clinicopathologically and genetically confirmed hereditary dentatorubral-pallidoluysian atrophy (DRPLA) using an antibody against ubiquitin, and found small, round immunoreactive intranuclear inclusions in both neurons and glial cells in various brain regions. Ubiquitinated neuronal intranuclear inclusions (uNIIs) were consistently found in the striatum, the pontine nuclei, the inferior olivary complex, the cerebellar cortex and the dentate nucleus. Ubiquitinated glial intranuclear inclusions (uGIIs) were found less frequently than uNIIs. Most of the inclusion-bearing nuclei were of an astrocytic nature. Immunostaining with an antibody against DRPLA protein revealed similar immunoreactive neuronal and glial intranuclear inclusions, but in much smaller in numbers compared with uNIIs and uGIIs. Electron microscopy showed that such inclusions were composed of granular and filamentous structures. These findings strongly suggest that, in DRPLA, the occurrence of uNIIs and uGIIs is directly related to the causative gene abnormality (an expanded CAG repeat encoding polyglutamine), that neurons are affected much more widely than previously recognized and that glial cells are also involved in the disease process.
  • H Takano, G Cancel, T Ikeuchi, D Lorenzetti, R Mawad, G Stevanin, O Didierjean, A Durr, M Oyake, T Shimohata, R Sasaki, R Koide, S Igarashi, S Hayashi, Y Takiyama, M Nishizawa, H Tanaka, H Zoghbi, A Brice, S Tsuji
    AMERICAN JOURNAL OF HUMAN GENETICS 63 4 1060 - 1066 1998年10月 [査読有り][通常論文]
     
    To test the hypothesis that the frequencies of normal alleles (ANs) with a relatively large number of CAG repeats (large ANs) are related to the prevalences of the dominant spinocerebellar ataxias (SCAs)-SCA types 1, 2, 3 (Machado-Joseph disease), 6, and dentatorubral-pallidoluysian atrophy (DRPLA)-we investigated the relative prevalences of these diseases in 202 Japanese and 177 Caucasian families and distributions of the number of CAG repeats of ANs at these disease loci in normal individuals in each population. The relative prevalences of SCA1 and SCA2 were significantly higher in Caucasian pedigrees (15% and 14%, respectively) than in Japanese pedigrees (3% and 5%, respectively), corresponding to the observation that the frequencies of large ANs of SCA1 (alleles >30 repeats) and of SCA2 (alleles >22 repeats) were significantly higher in Caucasians than in Japanese. The relative prevalences of MJD/SCA3, SCA6, and DRPLA were significantly higher in Japanese pedigrees (43%, 11%, and 20%, respectively) than in Caucasian pedigrees (30%, 5%, and 0%, respectively), corresponding to the observation that the frequencies of large ANs of MJD/SCAS (>27 repeats), SCA6 (>13 repeats), and DRPLA (>17 repeats) were significantly higher in Japanese than in Caucasians. The close correlations of the relative prevalences of the dominant SCAs with the distributions of large ANs strongly support the assumption that large ANs contribute to generation of expanded alleles (AEs) and the relative prevalences of the dominant SCAs.
  • Sato A, Koide R, Shimohata T, Igarashi S, Tanaka K, Inuzuka T, Nawa H, Tsuji S
    NEUROLOGY 50 4 A168  1998年04月 [査読有り][通常論文]
  • S Igarashi, R Koide, T Shimohata, M Yamada, Y Hayashi, H Takano, H Date, M Oyake, T Sato, A Sato, S Egawa, T Ikeuchi, H Tanaka, R Nakano, K Tanaka, Hozumi, I, T Inuzuka, H Takahashi, S Tsuji
    NATURE GENETICS 18 2 111 - 117 1998年02月 [査読有り][通常論文]
     
    To elucidate the molecular mechanisms whereby expanded polyglutamine stretches elicit a gain of toxic function, we expressed full-length and truncated DRPLA (dentatorubral-pallidoluysian atrophy) cDNAs with or without expanded CAG repeats in COS-7 cells. We found that truncated DRPLA proteins containing an expanded polyglutamine stretch form filamentous peri-and intranuclear aggregates and undergo apoptosis. The apoptotic cell death was partially suppressed by the transglutaminase inhibitors cystamine and monodansyl cadaverine (but not putrescine), suggesting involvement of a transglutaminase reaction and providing a potential basis for the development of therapeutic measures for GAG-repeat expansion diseases.
  • S Igarashi, R Koide, T Shimohata, M Yamada, Y Hayashi, H Takano, H Date, M Oyake, T Sato, A Sato, S Egawa, T Ikeuchi, H Tanaka, R Nakano, K Tanaka, Hozumi, I, T Inuzuka, H Takahashi, S Tsuji
    NATURE GENETICS 18 2 111 - 117 1998年02月 [査読有り][通常論文]
     
    To elucidate the molecular mechanisms whereby expanded polyglutamine stretches elicit a gain of toxic function, we expressed full-length and truncated DRPLA (dentatorubral-pallidoluysian atrophy) cDNAs with or without expanded CAG repeats in COS-7 cells. We found that truncated DRPLA proteins containing an expanded polyglutamine stretch form filamentous peri-and intranuclear aggregates and undergo apoptosis. The apoptotic cell death was partially suppressed by the transglutaminase inhibitors cystamine and monodansyl cadaverine (but not putrescine), suggesting involvement of a transglutaminase reaction and providing a potential basis for the development of therapeutic measures for GAG-repeat expansion diseases.
  • T Ikeuchi, H Takano, R Koide, Y Horikawa, Y Honma, Y Onishi, S Igarashi, H Tanaka, N Nakao, K Sahashi, H Tsukagoshi, K Inoue, H Takahashi, S Tsuji
    ANNALS OF NEUROLOGY 42 6 879 - 884 1997年12月 [査読有り][通常論文]
     
    Autosomal dominant spinocerebellar ataxias (SCAs) are clinically and genetically a heterogeneous group of neurodegenerative disorders. Recently, mild CAG repeat expansion in the alpha(1A) voltage-dependent calcium channel gene has been found to be associated with a type of autosomal dominant SCA (SCA6). We analyzed 98 Japanese families with autosomal dominant SCAs, for whom CAG repeat expansions of the SCA1, SCA2, Machado-Joseph disease/SCA3, and dentatorubral-pallidoluysian atrophy genes were excluded, and 5 apparently sporadic cases of cortical cerebellar atrophy. The diagnosis of SCA6 was confirmed in 30 families (31%) comprising 47 affected individuals and 1 sporadic case. The size of expanded CAG repeats ranged from 21 to 26 repeat units and was found to be correlated inversely with age at onset. We identified 2 SCA6 patients homozygous for expanded CAG repeats, whose ages at onset were earlier than the 95% lower confidence level, suggesting the presence of a gene dosage effect of expanded CAG repeat. Ataxia is the most common initial symptom found in 45 of the 48 patients. Patients with a prolonged disease course showed other accompanying clinical features including dystonic postures, involuntary movements, and abnormalities in tendon reflexes.
  • R Koide, O Onodera, T Ikeuchi, R Kondo, H Tanaka, S Tokiguchi, A Tomoda, T Miike, F Isa, H Beppu, N Shimizu, Y Watanabe, Y Horikawa, T Shimohata, K Hirota, A Ishikawa, S Tsuji
    NEUROLOGY 49 6 1605 - 1612 1997年12月 [査読有り][通常論文]
     
    To elucidate how the size of the expanded CAG repeat of the gene for dentatorubral pallidoluysian atrophy (DRPLA) and other factors affect the atrophy of the brainstem and cerebellum, and the appearance of high-intensity signals on T2-weighted MRI of the cerebral white matter of patients with DRPLA, we quantitatively analyzed the MRI findings of 26 patients with DRPLA, the diagnosis of which was confirmed by molecular analysis of the DRPLA gene. When we classified the patients into two groups based on the size of the expanded CAG repeat of the DRPLA gene (group 1, number of CAG repeat units greater than or equal to 66; group 2, number of CAG repeat units less than or equal to 65), we found strong inverse correlations between the age at MRI and the areas of midsagittal structures of the cerebellum and brainstem in group 1 but not in group 2. Multiple regression analysis, however, revealed that both the patient's age at MRI and the size of the expanded CAG repeat correlated with the areas of midsagittal structures. Involvement of the cerebral white matter as detected on T2-weighted images was observed more frequently in patients belonging to group 2 than in group 1 patients. Furthermore it was demonstrated that high-intensity signals can be detected on T2-weighted images of the cerebral white matter of patients with a largely expanded CAG repeat (group I) in their thirties. These results suggest that patient age as well as the size of the expanded CAG repeat are related to the degree of atrophy of the brainstem and cerebellum, and the white matter changes in patients with DRPLA.
  • K Sanpei, H Takano, S Igarashi, T Sato, M Oyake, H Sasaki, A Wakisaka, K Tashiro, Y Ishida, T Ikeuchi, R Koide, M Saito, A Sato, T Tanaka, S Hanyu, Y Takiyama, M Nishizawa, N Shimizu, Y Nomura, M Segawa, K Iwabuchi, Eguchi, I, H Tanaka, H Takahashi, S Tsuji
    NATURE GENETICS 14 3 277 - 284 1996年11月 [査読有り][通常論文]
     
    Spinocerebellar ataxia type 2 (SCA2) is an autosomal dominant, neurodegenerative disorder that affects the cerebellum and other areas of the central nervous system. We have devised a novel strategy, the direct identification of repeat expansion and cloning technique (DIRECT), which allows selective detection of expanded CAG repeats and cloning of the genes involved. By applying DIRECT, we identified an expanded CAG repeat Of the gene for SCA2. CAG repeats of normal alleles range in size from 15 to 24 repeat units, while those of SCA2 chromosomes are expanded to 35 to 59 repeat units. The SCA2 cDNA is predicted to code for 1,313 amino acids - with the CAG repeats coding for a polyglutamine tract. DIRECT is a robust strategy for identification of pathologically expanded trinucleotide repeats and will dramatically accelerate the search for causative genes of neuropsychiatric diseases caused by trinucleotide repeat expansions.
  • N Shimizu, T Yamami, M Nakayama, T Ikeuchi, R Koide, S Tsuji
    JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY 61 1 113 - 114 1996年07月 [査読有り][通常論文]
  • H Takano, O Onodera, H Takahashi, S Igarashi, M Yamada, M Oyake, T Ikeuci, R Koide, H Tanaka, K Iwabuchi, S Tsuji
    AMERICAN JOURNAL OF HUMAN GENETICS 58 6 1212 - 1222 1996年06月 [査読有り][通常論文]
     
    Dentatorubral-pallidoluysian atrophy (DRPLA) is an autosomal dominant neurodegenerative disease caused by unstable expansion of a CAG repeat in the DRPLA gene. We performed detailed quantitative analysis of the size and the size distribution (range) of the expanded CAG repeats in various regions of the CNS of eight autopsied patients with DRPLA. Expanded alleles (AE) showed considerable variations in size, as well as in range, depending on the region of the CNS, whereas normal alleles did not show such variations, which indicates the occurrence of somatic mosaicism of AE in the CNS. The AE in the cerebellar cortex were consistently smaller by two to five repeat units than those in the cerebellar white matter. Moreover, the AE in the cerebral cortex were smaller by one to four repeat units than those in the cerebral white matter. These results suggest that the smaller AE in the cerebellar and cerebral cortices represent those of neuronal cells. The ranges of the AE in the cerebral cortex, cerebral white matter, and cerebellar white matter showed considerable variation ranging from 9 to 23 repeat units, whereas those in the cerebellar cortex showed little variance and were similar to 7 repeat units. The ranges of the AE in the cerebral cortex, cerebral white matter, and cerebellar white matter were much broader in patients with higher ages at death than they were in patients with lower ages at death, raising the possibility that the range of AE increases with time, as the result of mitotic instability of AE.
  • T Ikeuchi, S Igarashi, Y Takiyama, O Onodera, M Oyake, H Takano, R Koide, H Tanaka, S Tsuji
    AMERICAN JOURNAL OF HUMAN GENETICS 58 4 730 - 733 1996年04月 [査読有り][通常論文]
     
    Autosomal dominant dentatorubral-pallidoluysian atrophy (DRPLA) and Machado-Joseph disease (MJD) are neurodegenerative disorders caused by CAG trinucleotide repeat expansions. An inverse correlation of age at onset with the length of the expanded CAG trinucleotide repeats has been demonstrated, and the intergenerational instability of the length of the CAG trinucleotide repeats, which is more prominent in paternal than in maternal transmissions, has been shown to underlie the basic mechanisms of anticipation in DRPLA and MJD. Our previous observations on DRPLA and MJD pedigrees, as well as a review of the literature, have suggested that the numbers of affected offspring exceed those of unaffected offspring, which is difficult to explain by the Mendelian principle of random segregation of alleles. In the present study, we analyzed the segregation patterns in 211 transmissions in 24 DRPLA pedigrees and 80 transmissions in 7 MJD pedigrees, with the diagnoses confirmed by molecular testing. Significant distortions in favor of transmission of the mutant alleles were found in male meiosis, where the mutant alleles were transmitted to 62% of all offspring in DRPLA (chi(2) = 7.69; P < .01) and 73% in MJD (chi(2) = 6.82; P < .01). The results were consistent with meiotic drive in DRPLA and MJD. Since more prominent meiotic instability of the length of the CAG trinucleotide repeats is observed in male meiosis than in female meiosis and meiotic drive is observed only in male meiosis, these results raise the possibility that a common molecular mechanism underlies the meiotic drive and the meiotic instability in male meiosis.
  • Tsuji S, Koide R, Ikeuchi T
    No to shinkei = Brain and nerve 48 4 323 - 328 1996年04月 [査読有り][通常論文]
  • T IKEUCHI, R KOIDE, H TANAKA, O ONODERA, S IGARASHI, H TAKAHASHI, R KONDO, A ISHIKAWA, A TOMODA, T MIIKE, K SATO, Y IHARA, T HAYABARA, F ISA, H TANABE, S TOKIGUCHI, M HAYASHI, N SHIMIZU, F IKUTA, H NAITO, S TSUJI
    ANNALS OF NEUROLOGY 37 6 769 - 775 1995年06月 [査読有り][通常論文]
     
    Dentatorubral-pallidoluysian atrophy is an autosomal dominant neurodegenerative disease characterized by various combinations of ataxia, choreoathetosis, myoclonus, epilepsy, and dementia as well as a wide range of ages at onset. A specific unstable trinucleotide repeat expansion in a gene on the short arm of chromosome 12 was recently identified as the pathogenic mutation for this disease. We investigated how the degree of expansion of the CAG repeat affects the clinical manifestations of dentatorubral-pallidoluysian atrophy. The size of the expanded alleles was well correlated with the age at onset (r = -0.696, p < 0.001). Patients with the progressive myoclonus epilepsy phenotype had larger expansions (62-79 repeats) and an earlier age at onset (onset before age 21). Furthermore, most of the patients with the progressive myoclonus epilepsy phenotype inherited their expanded alleles from their affected fathers. On the other hand, patients with the non-progressive myoclonus epilepsy phenotype showed smaller expansions (54-67 repeats) and a later age at onset (onset at or after age 21). Detailed analyses of clinical features demonstrated that ataxia, involuntary movement of either myoclonus or choreoathetosis, and intellectual decline are cardinal features of dentatorubral-pallidoluysian atrophy, with myoclonus and epilepsy being observed more frequently in patients with an earlier age at onset. Thus the wide variation in clinical manifestations of dentatorubral-pallidoluysian atrophy can now be clearly explained based on the degree of CAG repeat expansion, which strongly indicates that the expanded alleles are intimately involved in the neuronal degeneration in dentatofugal and pallidofugal systems.
  • T IKEUCHI, O ONODERA, M OYAKE, R KOIDE, H TANAKA, S TSUJI
    SEMINARS IN CELL BIOLOGY 6 1 37 - 44 1995年02月 [査読有り][通常論文]
     
    Dentatorubral-pallidoluysian atrophy (DRPLA) is a rare autosomal dominant neurodegenerative disease characterized by various combinations of ataxia, choreoathetosis, myoclonus, epilepsy and dementia as well as various ages of onset. We have identified a specific unstable trinucleotide repeat expansion in a gene on the short arm of chromosome 12 as the pathogenic mutation for DRPLA. We investigated how the degree of the expansion of the CAG repeat affects the clinical manifestations of DRPLA. The sires of the expanded alleles were well correlated with the ages of onset (r = -0.6955, P<0.001). Patients with progressive myoclonus epilepsy (PME) phenotype had larger expansions (62-79 repeats) and earlier ages of onset (onset before age 20). Furthermore, most of the patients with PME phenotype inherited their expanded alleles from their affected fathers. On the other hand, patients with non-PME phenotype showed later ages of onset (onset after age 20) and smaller expansions (54-67 repeats). When ages of onset of each clinical symptom are compared with sizes of the CAG repeat, there is again a remarkably high correlation of the sizes of CAG repeat with each of the clinical symptoms. Thus the wide variation in clinical manifestations of DRPLA can now be clearly explained based on-the degree of CAG repeat expansion, which strongly indicates that the expanded alleles are intimately involved in the neuronal degeneration in dentatofugal and pallidofugal systems.
  • 遺伝子 診断が有用であった孤発例と考えられた歯状核赤核淡蒼球ルイ体萎縮症 (DRPLA) の1例
    善本晴子, 佐原正起, 田中恵子, 池内 健, 小出玲爾, 辻 省次
    臨床神経 35 201 - 203 1995年 [査読有り][通常論文]
  • H. Yoshimoto, M. Sahara, K. Tanaka, T. Ikeuchi, R. Koide, S. Tsuji
    Clinical Neurology 35 2 201 - 203 1995年 [査読有り][通常論文]
     
    We report a 48 year-old woman with dentatorubral-pallidoluysian atrophy (DRPLA). She is the only patient in her 15 family members in two generations. She developed cerebellar ataxia and epilepsy at age 43. On admission at 48, she showed mild dementia and choreic movement in her face and extremities as well as truncal and limb ataxia. Routine laboratory examinations were normal. The point mutations in the tRNA(Lys) gene of mitochondrial DNA specific for MERRF were not found. A cranial CT scan and MRI showed mild atrophy of the cerebellum and prominent atrophy in the pons, especially in the tegmentum. Although she was thought to have DRPLA from the clinical point of view, absence of family history made the diagnosis difficult. Her parents were healthy until their 80's and died of cerebrovascular diseases and her 5 siblings had no symptoms. Hereditary DRPLA is known as an autosomal dominant disorder,with a high rate of penetrance and low rate of new mutation. According to our recent findings of a CAG repeat expansion in the DRPLA gene, this patient was diagnosed as a sporadic DRPLA. Considering the wide varieties of clinical manifestations, it is essential to examine this gene abnormality for diagnosing sporadic DRPLA.
  • T IKEUCHI, R KOIDE, O ONODERA, H TANAKA, M OYAKE, H TAKANO, S TSUJI
    CLINICAL NEUROSCIENCE 3 1 23 - 27 1995年 [査読有り][通常論文]
     
    Dentatorubral-pallidoluysian atrophy (DRPLA) is a rare autosomal dominant neurodegenerative disorder characterized clinically by various combinations of myoclonus, epilepsy, cerebellar ataxia, choreoathetosis, dementia and psychiatric symptoms. Based on the phenomenon of anticipation, the gene for DRPLA was recently identified. DRPLA is caused by unstable expansion of a CAG repeat in the gene located on the short arm of chromosome 12. As have been observed in Huntington's disease and SCA1, there is a strong correlation between the age of onset and the size of CAG repeats. Furthermore, patients with larger repeats tend to show a PME (progressive myoclonus epilepsy) phenotype as well as earlier ages of onset. More prominent anticipation and larger intergenerational increase of CAG repeats in paternal transmission can be accounted for by the meiotic instability of CAG repeats in male gametogenesis. Comparison of size distributions of CAG repeats in Japanese, African-American and white populations revealed that 7.4% of the Japanese alleles had greater than 19 repeats, whereas none of the whites and 1% of the African-American alleles were of this size. The results may account for the ethnic predilection of DRPLA. (C) 1995 Wiley-Liss, Inc.
  • AR BURKE, T IKEUCHI, R KOIDE, S TSUJI, M YAMADA, MA PERICAKVANCE, JM VANCE
    LANCET 344 8938 1711 - 1712 1994年12月 [査読有り][通常論文]
  • R KOIDE, T IKEUCHI, O ONODERA, H TANAKA, S IGARASHI, K ENDO, H TAKAHASHI, R KONDO, A ISHIKAWA, T HAYASHI, M SAITO, A TOMODA, T MIIKE, H NAITO, F IKUTA, S TSUJI
    NATURE GENETICS 6 1 9 - 13 1994年01月 [査読有り][通常論文]
     
    Hereditary dentatorubral-pallidoluysian atrophy (DRPLA) is an autosomal dominant neurologic disorder characterized by variable combinations of myoclonus, epilepsy, cerebellar ataxia, choreoathetosis and dementia. By specifically searching published brain cDNA sequences for the presence of CAG repeats we identified unstable expansion of a CAG in a gene on chromosome 12 in all the 22 DRPLA patients examined. A good correlation between the size of the CAG repeat expansion and the ages of disease onset is found in this group. Patients with earlier onset tended to have a phenotype of progressive myoclonus epilepsy and larger expansions. We propose that the wide variety of clinical manifestations of DRPLA can now be explained by the variable unstable expansion of the CAG repeat.
  • Koide R, Yoshimura N, Soma Y, Tsuji S
    Rinsho shinkeigaku = Clinical neurology 33 8 909 - 911 1993年08月 [査読有り][通常論文]
  • Y TSUNEMATSU, R KOIDE, M SASAKI, H TAKAHASHI
    JAPANESE JOURNAL OF CLINICAL ONCOLOGY 14 1 107 - 113 1984年 [査読有り][通常論文]

MISC

  • Kosuke Matsuzono, Kohei Furuya, Takeshi Igarashi, Akie Horikiri, Takamasa Murosaki, Daekwan Chi, Yuichi Toyama, Kumiko Miura, Tadashi Ozawa, Takafumi Mashiko, Haruo Shimazaki, Reiji Koide, Ryota Tanaka, Shigeru Fujimoto Journal of thrombosis and thrombolysis 49 (4) 681 -684 2020年05月 [査読無し][通常論文]
     
    Cerebral amyloid angiopathy-related inflammation is a syndrome of reversible encephalopathy with cerebral amyloid angiopathy, however the pathology is not well understood. We clear a part of the pathology through the first case of an 80-year-old man with cerebral amyloid angiopathy-related inflammation induced by relapsing polychondritis (RP) analysis. An 80-year-old man was diagnosed with RP by auricular cartilage biopsy. Almost no abnormality including intracranial microbleeding was detected by cranial magnetic resonance image (MRI) at diagnosis. However, he developed a headache and hallucination after five months. Seven-month cranial MRI showed novel, multiple, intracranial microbleeding, especially in the bilateral but asymmetry posterior, temporal, and parietal lobes. 123I-N-isopropyl-p-iodoamphetamine single-photon emission computed tomography showed increased cerebral blood flow in the bilateral posterior lobes. After treatment, both of his neurological symptoms and increased cerebral blood flow improved to mild. Photon emission computed tomography using Pittsburgh compound B (PiB) for evaluation of brain amyloidosis at 12 months after onset showed an amyloid deposit in the bilateral frontal lobes, but a lack of uptake corresponded to the RP lesions. Our case suggests that inflammation coupled with an amyloid deposit, induced the multiple intracranial bleeding, and resulted in the lack of PiB uptake. Findings from our case show that inflammation including excess blood flow coupled with an amyloid deposit synergistically facilitate intracranial bleeding.
  • Miyu Usui, Tadashi Ozawa, Younhee Kim, Takafumi Mashiko, Kosuke Matsuzono, Keiko Maruyama, Koichi Kokame, Rie Usui, Reiji Koide, Shigeru Fujimoto Journal of obstetrics and gynaecology : the journal of the Institute of Obstetrics and Gynaecology 40 (1) 135 -136 2020年01月 [査読無し][通常論文]
  • Isolated hand palsyを呈した脳梗塞 機能的MRIによる機能局在解析の検討
    古谷 浩平, 小澤 忠嗣, 大貫 良幸, 金 蓮姫, 横瀬 美里, 鈴木 雅之, 松薗 構佑, 益子 貴史, 嶋崎 晴雄, 小出 玲爾, 松浦 徹, 川合 謙介, 藤本 茂 臨床神経学 58 (Suppl.) S279 -S279 2018年12月 [査読無し][通常論文]
  • Kosuke Matsuzono, Masayuki Suzuki, Naoto Arai, Younhee Kim, Tadashi Ozawa, Takafumi Mashiko, Haruo Shimazaki, Reiji Koide, Shigeru Fujimoto Journal of stroke and cerebrovascular diseases : the official journal of National Stroke Association 27 (7) e132-e134 2018年07月 [査読無し][通常論文]
     
    Some stroke patients with the acute aortic dissection receiving thrombolysis treatment resulted in fatalities. Thus, the concurrent acute aortic dissection is the contraindication for the intravenous recombinant tissue-type plasminogen activator. However, the safety and the effectiveness of the intravenous recombinant tissue-type plasminogen activator therapy are not known in patients with stroke some days after acute aortic dissection treatment. Here, we first report a case of a man with a cardioembolism due to the nonvalvular atrial fibrillation, who received the intravenous recombinant tissue-type plasminogen activator therapy 117 days after the traumatic Stanford type A acute aortic dissection operation. Without the intravenous recombinant tissue-type plasminogen activator therapy, the prognosis was expected to be miserable. However, the outcome was good with no complication owing to the intravenous recombinant tissue-type plasminogen activator therapy. Our case suggests the effectiveness and the safety of the intravenous recombinant tissue-type plasminogen activator therapy to the ischemic stroke some days after acute aortic dissection treatment.
  • 副腎白質ジストロフィーのMRI所見 タイプの異なる3症例の比較
    小出 玲爾, 小林 潤平, 本多 正幸, 八谷 靖夫, 熊田 聡子, 下澤 伸行 臨床神経学 53 (12) 1519 -1519 2013年12月 [査読無し][通常論文]
  • 肺小細胞癌に伴った抗NMDA受容体脳炎の68歳男性例
    北澤 悠, 漆葉 章典, 黒田 昌寿, 小出 玲爾, 松原 四郎, 田中 惠子 臨床神経学 51 (5) 368 -368 2011年05月 [査読無し][通常論文]
  • 林健太郎, 小出玲爾, 清水俊夫, 川田明広, 望月葉子, 水谷俊雄, 本間琢 日本神経学会学術大会プログラム・抄録集 52nd 2011年
  • 蛍光ビデオ顕微鏡による歯状核赤核淡蒼球ルイ体萎縮症(DRPLA)のポリグルタミン凝集の観察
    豊島 至, 菅原 正伯, 和田 千鶴, 阿部 エリカ, 渡辺 純夫, 下畑 享良, 小出 玲爾, 小野寺 理, 辻 省次 臨床神経学 40 (12) 1319 -1319 2000年12月 [査読無し][通常論文]
  • 成人型歯状核赤核・淡蒼球ルイ体萎縮症(DRPLA)と正常圧水頭症(NPH) 脳槽シンチによる検討
    藤田 信也, 永井 博子, 菊川 公紀, 石川 厚, 大野 司, 登木口 進, 下畑 享良, 小出 玲爾, 辻 省次 臨床神経学 40 (12) 1462 -1462 2000年12月 [査読無し][通常論文]
  • ミトコンドリアDNA 8993 T to C変異を認めたNARP(neurogenic muscle weakness,ataxia,and retinitis pigmentosa)の1例
    三谷 真紀, 陣内 研二, 高橋 桂一, 小出 玲爾, 辻 省次 臨床神経学 40 (6) 600 -604 2000年06月 [査読無し][通常論文]
     
    症例は37歳男性で,軽度の精神発達遅滞と網膜色素変性症があり,歩行障害,全身強直間代痙攣発作を主訴に入院した.言語は断綴性で不明瞭,頸部を左側屈のジストニア,錐体路徴候を認めた.血中,髄液中の乳酸,ピルビン酸はやや高値であった.頭部MRIでは大脳皮質と小脳皮質がび漫性に萎縮し,両側レンズ核がT1強調画像で弱い低信号,T2強調画像で高信号を示した.遺伝子検索にてミトコンドリアDNA 8993 T to C変異を認め,neurogenic muscle weakness,ataxia,and retinitis pigmentosa(NARP)と診断した
  • 神経変性疾患の病因遺伝子の遺伝子クローニング
    池内 健, 小出 玲爾, 辻 省次, 三瓶 一弘 新潟県医師会報 (601) 2 -7 2000年04月 [査読無し][通常論文]
  • ミトコンドリアDNA8993 T to C変異を認めたNARP(neurogenic weakness,ataxia,retinitis pigmentosa)の1例
    三谷 真紀, 陣内 研二, 高橋 桂一, 江原 崇, 小出 玲爾, 辻 省次 臨床神経学 40 (3) 294 -294 2000年03月 [査読無し][通常論文]
  • 分化型PC12細胞における歯状核赤核・淡蒼球ルイ体萎縮症蛋白の発現と核内封入体の形成
    佐藤 晶, 下畑 享良, 小出 玲爾, 高野 弘基, 佐藤 俊哉, 小宅 睦郎, 五十嵐 修一, 田中 恵子, 犬塚 貴, 辻 省次 臨床神経学 39 (12) 1337 -1337 1999年12月 [査読無し][通常論文]
  • 分類不明の遺伝性脊髄小脳変性症におけるプリオン蛋白遺伝子の検討
    志知 隆雄, 小出 玲爾, 辻 省次 臨床神経学 39 (12) 1347 -1347 1999年12月 [査読無し][通常論文]
  • Multiple system atrophy剖検脳におけるα-synuclein遺伝子の全コード領域の解析
    小澤 鉄太郎, 高野 弘基, 小野寺 理, 小林 央, 池内 健, 小出 玲爾, 奥泉 薫, 下畑 享良, 辻 省次, 若林 孝一 臨床神経学 39 (12) 1336 -1336 1999年12月 [査読無し][通常論文]
  • 二次元電気泳動を用いたDIRECTの開発(2D-DIRECT) 新規トリプレットリピート病の同定に向けて
    池内 健, 小出 玲爾, 辻 省次, 三瓶 一弘 臨床神経学 39 (12) 1394 -1394 1999年12月 [査読無し][通常論文]
  • 歯状核赤核淡蒼球ルイ体萎縮症(DRPLA) 増大ポリグルタミン鎖に結合する細胞内蛋白質の検索
    下畑 享良, 小野寺 理, 小出 玲爾, 佐藤 晶, 野崎 兼吉, 辻 省次, 山田 光則, 高橋 均 臨床神経学 39 (12) 1426 -1426 1999年12月 [査読無し][通常論文]
  • TATA-binding protein(TBP)のCAGリピート増大に伴う神経変性疾患
    小出 玲爾, 下畑 享良, 池内 健, 丸山 美枝子, 斎藤 正明, 辻 省次, 小林 繁一 臨床神経学 39 (12) 1428 -1428 1999年12月 [査読無し][通常論文]
  • ポリグルタミン凝集の時間経過と細胞死
    豊島 至, 菅原 正伯, 加藤 一麿, 和田 千鶴, 下畑 享良, 小出 玲爾, 小野寺 理, 辻 省次 神経化学 38 (3) 222 -222 1999年09月 [査読無し][通常論文]
  • DRPLAにおける神経細胞死
    下畑 享良, 山田 光則, 五十嵐 修一, 小野寺 理, 小出 玲爾, 佐藤 晶, 佐藤 駿哉, 野崎 兼吉, 高橋 均, 辻 省次 神経化学 38 (3) 204 -204 1999年09月 [査読無し][通常論文]
  • 非Alzheimer型変性痴呆 皮質下諸核の変性を主とする痴呆 歯状核赤核淡蒼球ルイ体萎縮症
    小出 玲爾, 飯塚 統, 相馬 芳明, 辻 省次 Clinical Neuroscience 17 (8) 928 -929 1999年08月 [査読無し][通常論文]
  • 山田 光則, 小出 玲爾, 下畑 享良, 豊島 靖子, 辻 省次, 高橋 均 Neuropathology : official journal the Japanese Society of Neuropathology 19 208 -208 1999年06月
  • 若林 孝一, 福島 隆男, 小出 玲爾, 堀川 楊, 野田 恒彦, 渡部 裕美子, 森田 俊, 高橋 均 Neuropathology : official journal the Japanese Society of Neuropathology 19 206 -206 1999年06月
  • R Koide, S Kobayashi, T Shimohata, T Ikeuchi, M Maruyama, M Saito, S Tsuji NEUROLOGY 52 (6) A114 -A114 1999年04月 [査読無し][通常論文]
  • 脊髄小脳失調症6型(SCA6)における電位依存性Ca2+チャネルα1Aサブユニット遺伝子のCAGリピートの伸長と経過年数に着目した臨床徴候の多様性
    池内 健, 高野 弘基, 小出 玲爾, 田中 一, 辻 省次, 高橋 均, 堀川 楊, 大西 洋司, 本間 義章, 中尾 直樹 臨床神経学 39 (1) 123 -123 1999年01月 [査読無し][通常論文]
  • ポリグルタミンとglyceraldehyde-3-phosphate dehydrogenaseの蛋白間相互作用の検討
    姉崎 利治, 小出 玲爾, 下畑 享良, 池内 健, 佐藤 晶, 五十嵐 修一, 田中 恵子, 辻 省次 臨床神経学 39 (1) 149 -149 1999年01月 [査読無し][通常論文]
  • 歯状核赤核・淡蒼球ルイ体萎縮症(DRPLA)の伸長ポリグルタミン鎖のアデノウイルスベクターを用いた発現による神経細胞障害機構の解析
    佐藤 晶, 下畑 享良, 小出 玲爾, 高野 弘基, 小宅 睦郎, 佐藤 俊哉, 五十嵐 修一, 田中 恵子, 犬塚 貴, 辻 省次 臨床神経学 39 (1) 146 -146 1999年01月 [査読無し][通常論文]
  • 【遺伝性脊髄小脳変性症の遺伝子と臨床像】 DRPLA(歯状核赤核淡蒼球ルイ体萎縮症) 発症メカニズムの解明に向けて
    五十嵐 修一, 小出 玲爾, 下畑 享良, 辻 省次 神経内科 49 (3) 249 -254 1998年09月 [査読無し][通常論文]
  • T Shimohata, S Igarashi, R Koide, M Yamada, H Takano, H Date, M Oyake, T Sato, Y Hayashi, A Sato, S Egawa, T Ikeuchi, H Tanaka, R Nakano, K Tanaka, Hozumi, I, T Inuzuka, H Takahashi, S Tsuji NEUROLOGY 50 (4) A310 -A311 1998年04月 [査読無し][通常論文]
  • H Takano, G Cancel, A Durr, T Ikeuchi, D Lorenzetti, R Mawad, M Oyake, R Sasaki, S Igarashi, S Hayashi, R Koide, Y Takiyama, M Nishizawa, H Tanaka, H Zoghbi, A Brice, ST Tsuji AMERICAN JOURNAL OF HUMAN GENETICS 61 (4) A213 -A213 1997年10月 [査読無し][通常論文]
  • T Ikeuchi, H Takano, R Koide, Y Horikawa, Y Honma, Y Onishi, S Igarashi, H Tanaka, N Nakao, K Sahashi, H Tsukagoshi, K Inoue, H Takahashi, S Tsuji AMERICAN JOURNAL OF HUMAN GENETICS 61 (4) A311 -A311 1997年10月 [査読無し][通常論文]
  • R Koide, S Igarashi, M Yamada, H Takano, H Date, M Oyake, T Sato, A Sato, R Nakano, T Inuzuka, S Egawa, H Takahashi, S Tsuji AMERICAN JOURNAL OF HUMAN GENETICS 61 (4) A52 -A52 1997年10月 [査読無し][通常論文]
  • H Takano, T Ikeuchi, S Igarashi, M Oyake, R Koide, R Sasaki, K Sanpei, H Sasaki, A Wakisaka, K Tashiro, K Iwabuchi, Y Takiyama, M Nishizawa, H Tanaka NEUROLOGY 48 (3) 26002 -26002 1997年03月 [査読無し][通常論文]
  • 内藤・小柳病(DRPLA)のgene huntingの軌跡
    辻 省次, 小出 玲爾, 池内 健 脳と神経 48 (4) 323 -328 1996年04月 [査読無し][通常論文]
  • 歯状核赤核・淡蒼球ルイ体萎縮症(DRPLA)の分子遺伝学的検討
    辻 省次, 池内 健, 小出 玲爾 厚生省精神・神経疾患研究委託費研究報告書 神経疾患の病態解明に関する分子遺伝学的研究 平成6〜7年度 81 -84 1996年03月 [査読無し][通常論文]
     
    CAG repeatの延長の程度が,DRPLAの多彩な臨床像に強く相関していることを示した
  • T Ikeuchi, S Igarashi, Y Takiyama, O Onodera, M Oyake, H Takano, R Koide, H Tanaka, S Tsuji NEUROLOGY 46 (2) 30005 -30005 1996年02月 [査読無し][通常論文]
  • H TAKANO, O ONODERA, H TAKAHASHI, S IGARASHI, M YAMADA, M OYAKE, T IKEUCHI, R KOIDE, H TANAKA, K IWABUCHI, S TSUJI AMERICAN JOURNAL OF HUMAN GENETICS 57 (4) 39 -39 1995年10月 [査読無し][通常論文]
  • 遺伝性歯状核赤核淡蒼球ルイ体萎縮症(DRPLA):分子遺伝学の立場から
    小出 玲爾, 池内 健, 小野寺 理 新潟医学会雑誌 109 (4) 185 -189 1995年04月 [査読無し][通常論文]
     
    DRPLAは第12染色体上のCTG B37という名で呼ばれる遺伝子のCAGリピートの増大が原因であり,発症年齢やその多彩な病型はCAGリピート数と相関していることが明らかとなった
  • S TSUJI, T IKEUCHI, H TAKANO, S IGARASHI, Y TAKIYAMA, R KOIDE, H TANAKA JOURNAL OF NEUROCHEMISTRY 65 S72 -S72 1995年 [査読無し][通常論文]
  • 歯状核赤核淡蒼球ルイ体萎縮症(DRPLA)の分子遺伝学 CAGリピート病と遺伝子同定への新しい戦略
    池内 健, 小出 玲爾, 辻 省次 医学のあゆみ 171 (4) 256 -257 1994年10月 [査読無し][通常論文]
  • 歯状核赤核淡蒼球ルイ体萎縮症(DRPLA)の分子遺伝学 CAGリピートの増大はDRPLAの臨床像と深く相関する
    池内 健, 小出 玲爾, 辻 省次 医学のあゆみ 170 (6) 640 -643 1994年08月 [査読無し][通常論文]
  • 池内 健, 小出 玲爾, 辻 省次 臨床検査 38 (8) 960 -963 1994年08月 [査読無し][通常論文]
  • 神経変性疾患 最近の話題 歯状核赤核淡蒼球ルイ体萎縮症(DRPLA)
    池内 健, 小出 玲爾, 辻 省次 Modern Physician 14 (6) 811 -814 1994年06月 [査読無し][通常論文]
  • T IKEUCHI, R KOIDE, O ONODERA, H TANAKA, S IGARASHI, K ENDO, S TSUJI, H TAKAHASHI, F IKUTA, R KONDO, A ISHIKAWA, T HAYASHI, M SAITO, H NAITO, A TOMODA, T MIIKE NEUROLOGY 44 (4) A360 -A360 1994年04月 [査読無し][通常論文]
  • 歯状核赤核淡蒼球ルイ体萎縮症(DRPLA)の分子遺伝学的検討
    辻 省次, 池内 健, 小出 玲爾 厚生省精神・神経疾患研究委託費研究報告書 神経疾患の病態解明に関する分子遺伝学的研究 平成5年度 49 -51 1994年03月 [査読無し][通常論文]
     
    1994年に,本症患者の第12番染色体に局在するCAGリピートが特異的に増大していることが報告された。そこで,このCAGリピートの増大が本症の多彩な臨床像とどのように関連するかについて分子遺伝学的解析を行った。その結果,対照群ではDRPLA遺伝子のCAGリピート数は8〜35(平均15.2)であったのに対して,DRPLA患者では全例リピート数が54〜78(平均65.1)に増大していた。また,DRPLA患者の発症年齢とCAGリピート数の間に有意の相関が認められた。今回検討した15家系において,1世代あたり平均20.9歳若年化するanticipationがみられた。異常DRPLA遺伝子が父親を介して遺伝した場合22.3±3歳若年化し,母親を介した場合は17.5±2.2歳発症が若年化した


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