shimasaki haruo

FacultyInternalMedicineNeurology
Job titleAssociate ProfessorWeb site

Profile

Research Keywords

    Neurology

Research Areas

  • Clinical internal medicine / Neurology

Career

  • 1992
    -
    1993
    Jichi Medical School,
  • Department of Neurology,
  • Researcher
  • 1995
    -
    1996
    National Institute of Neuroscience,
  • Center for Neurology and Psychiatry,
  • Researcher.
  • 1999
    - Jichi Medical School,
  • Department of Neurology,
  • Research Assistant

Academic Background

  • -
    1988
    Faculty of Medicine, Jichi Medical University (japan)

Academic Societies

  • American Academy of Neurology
  • Japan Neurological Society
  • Japan Society of Human Genetics
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Academic Societiesclose
  • American Academy of Neurology
  • Japan Neurological Society
  • Japan Society of Human Genetics

Research Activities

Papers(paper)

  • Unique combination of hyperintense vessel sign on initial FLAIR and delayed vasoconstriction on MRA in reversible cerebral vasoconstriction syndrome: A case report.
    Kameda T, Namekawa M, Shimazaki H, Minakata D, Matsuura T, Nakano I
    Cephalalgia : an international journal of headache Apr. 2014
  • 変性疾患 脊髄小脳変性症 遺伝性痙性対麻痺 常染色体劣性遺伝性痙性対麻痺
    嶋崎晴雄
    日本臨床 438-442 Mar. 2014
  • Autosomal-recessive complicated spastic paraplegia with a novel lysosomal trafficking regulator gene mutation.
    Shimazaki H, Honda J, Naoi T, Namekawa M, Nakano I, Yazaki M, Nakamura K, Yoshida K, Ikeda SI, Ishiura H, Fukuda Y, Takahashi Y, Goto J, Tsuji S, Takiyama Y
    Journal of neurology, neurosurgery, and psychiatry Feb. 2014
  • 血管障害 その他 線維筋性形成異常症
    嶋崎晴雄
    日本臨床 379-382 Dec. 2013
  • Mutations in the mitochondrial gene C12ORF65 lead to syndromic autosomal recessive intellectual disability and show genotype phenotype correlation.
    Buchert R, Uebe S, Radwan F, Tawamie H, Issa S, Shimazaki H, Henneke M, Ekici AB, Reis A, Abou Jamra R
    European journal of medical genetics 56 599-602 Nov. 2013
  • A homozygous mutation of C12orf65 causes spastic paraplegia with optic atrophy and neuropathy (SPG55)
    SHIMAZAKI Haruo, Takiyama Y, Ishiura H, Sakai C, Matsushima Y, Hatakeyama H, Honda J, Sakoe K, Naoi T, Namekawa M, Fukuda Y, Takahashi Y, Goto J, Tsuji S, Goto Y, Nakano I
    J Med Genet 49(12) 777-784 Dec. 2012
  • Middle cerebellar peduncles and pontine T2 hypointensities in ARSACS
    SHIMAZAKI H et al.
    J Neuroimaging 23(1) 82-85 Jan. 2013
  • A novel adult case of juvenile-onset Alexander disease: complete remission of neurological symptoms for over 12 years, despite insidiously progressive cervicomedullary atrophy
    Namekawa M, SHIMAZAKI H. et al.
    Neurol Sci 33 1389-1392 2012
  • Novel compound heterozygous mutations of the SACS gene in autosomal recessive spastic ataxia of Charlevoix-Saguenay
    Haga R, SHIMAZAKI H et al.
    Clin Neurol Neurosurg 114 746-747 2012
  • Adult-onset Alexander disease with typical “tadpole” appearance of the brainstem and unusual involvement of bilateral basal ganglia: a case report and review of the literature
    Namekawa M, Takiyama Y, Honda J, Shimazaki H, Sakoe K, Nakano I
    BMC Neurology 10(1) 21 2010
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Papers(paper)close
  • Unique combination of hyperintense vessel sign on initial FLAIR and delayed vasoconstriction on MRA in reversible cerebral vasoconstriction syndrome: A case report.
    Kameda T, Namekawa M, Shimazaki H, Minakata D, Matsuura T, Nakano I
    Cephalalgia : an international journal of headache Apr. 2014
  • 変性疾患 脊髄小脳変性症 遺伝性痙性対麻痺 常染色体劣性遺伝性痙性対麻痺
    嶋崎晴雄
    日本臨床 438-442 Mar. 2014
  • Autosomal-recessive complicated spastic paraplegia with a novel lysosomal trafficking regulator gene mutation.
    Shimazaki H, Honda J, Naoi T, Namekawa M, Nakano I, Yazaki M, Nakamura K, Yoshida K, Ikeda SI, Ishiura H, Fukuda Y, Takahashi Y, Goto J, Tsuji S, Takiyama Y
    Journal of neurology, neurosurgery, and psychiatry Feb. 2014
  • 血管障害 その他 線維筋性形成異常症
    嶋崎晴雄
    日本臨床 379-382 Dec. 2013
  • Mutations in the mitochondrial gene C12ORF65 lead to syndromic autosomal recessive intellectual disability and show genotype phenotype correlation.
    Buchert R, Uebe S, Radwan F, Tawamie H, Issa S, Shimazaki H, Henneke M, Ekici AB, Reis A, Abou Jamra R
    European journal of medical genetics 56 599-602 Nov. 2013
  • A homozygous mutation of C12orf65 causes spastic paraplegia with optic atrophy and neuropathy (SPG55)
    SHIMAZAKI Haruo, Takiyama Y, Ishiura H, Sakai C, Matsushima Y, Hatakeyama H, Honda J, Sakoe K, Naoi T, Namekawa M, Fukuda Y, Takahashi Y, Goto J, Tsuji S, Goto Y, Nakano I
    J Med Genet 49(12) 777-784 Dec. 2012
  • Middle cerebellar peduncles and pontine T2 hypointensities in ARSACS
    SHIMAZAKI H et al.
    J Neuroimaging 23(1) 82-85 Jan. 2013
  • A novel adult case of juvenile-onset Alexander disease: complete remission of neurological symptoms for over 12 years, despite insidiously progressive cervicomedullary atrophy
    Namekawa M, SHIMAZAKI H. et al.
    Neurol Sci 33 1389-1392 2012
  • Novel compound heterozygous mutations of the SACS gene in autosomal recessive spastic ataxia of Charlevoix-Saguenay
    Haga R, SHIMAZAKI H et al.
    Clin Neurol Neurosurg 114 746-747 2012
  • Adult-onset Alexander disease with typical “tadpole” appearance of the brainstem and unusual involvement of bilateral basal ganglia: a case report and review of the literature
    Namekawa M, Takiyama Y, Honda J, Shimazaki H, Sakoe K, Nakano I
    BMC Neurology 10(1) 21 2010
  • Reversible limbic encephalitis with antibodies against the membranes of neurons of the hippocampus.
    Shimazaki H, Ando Y, Nakano I, Dalmau J.
    BMJ Case Reports 2009
  • Cerebral infarction attributable to cerebrovascular fibromuscular dysplasia
    Shimazaki H
    Brain Nerve 60(10) 1125-33 2008
  • A large family with spinocerebellar ataxia type 6 in Iran: a clinical and genetic study
    himazaki H, Vazifehmand R, Heidari MH, Khorram-Khorshid HR, Saber S, Hejazi S, Aghakhani-Moghadam F, Ouyang Y, Honda J, Nakano I, Takiyama Y
    Arch Iran Med 11(4) 459-62 2008
  • Radiation myelopathy and plexopathy
    Shimazaki H, nakano I
    Brain Nerve 60(2) 115-121 2008
  • Inverse ocular bobbing in a patient with encephalitis associated with antibodies to the NMDA receptor
    Shimazaki H, Morita M, Nakano I, Dalmau J
    Arch Neurol 65(9) 1251 2008
  • Novel SACS mutation in a Belgian family with sacsin-related ataxia
    Ouyang Y, Segers K, Bouquiaux O, Wang FC, Janin N, Andris C, Shimazaki H, Sakoe K, Nakano I, Takiyama Y
    J Neurol Sci 264(1-2) 73-76 2008
  • Drug-induced aseptic meningitis
    Shimazaki H, Nakano I
    Nippon Rinsho 65(Suppl 8) 382-5 2007
  • An unusual case of spasticity-lacking phenotype with a novel SACS mutation
    Shimazaki H, Sakoe K, Niijima K, Nakano I, Takiyama Y
    J Neurol Sci 255(1-2) 87-89 2007
  • Reversible limbic encephalitis with antibodies against the membranes of neurons of the hippocampus
    Shimazaki H, Ando Y, Nakano I, Dalmau J
    J Neurol Neurosurg Psychiatry 78(3) 324-25 2007
  • Paraneoplastic anti-N-methyl-D-aspartate receptor encephalitis associated with ovarian teratoma
    Dalmau J, Tuzun E, Wu HY, Masjuan J, Rossi JE, Voloschin A, Baehring JM, Shimazaki H, Koide R, King D, Mason W, Sansing LH, Dichter MA, Rosenfeld MR, Lynch DR
    Ann Neurol 61(1) 25-36 2007
  • Limited Wegener's granulomatosis manifested by abducens nerve palsy resulting from pachymeningitis
    Kamimura T, Shimazaki H, Morita M, Nakano I, Okazaki H, Minota S
    J Clin Rheumatol 12(5) 259-60 2006
  • Sacsin-related ataxia caused by the novel nonsense mutation Arg4325X.
    Yamamoto Y, Nakamori M, Konaka K, Nagano S, Shimazaki H, Takiyama Y, Sakoda S
    J Neurol 253(10) 1372-3 2006
  • 16q-linked autosomal dominant cerebellar ataxia: a clinical and genetic study.
    uyang Y, Sakoe K, Shimazaki H, Namekawa M, Ogawa T, Ando Y, Kawakami T, Kaneko J, Hasegawa Y, Yoshizawa K, Amino T, Ishikawa K, Mizusawa H, Nakano I, Takiyama Y
    J Neurol sci 247(2) 180-6 2006
  • Sacsin-related ataxia (ARSACS): expanding the genotype upstream from the gigantic exon
    Ouyang Y, Takiyama Y, Sakoe K, Shimazaki H, Ogawa T, Nagano S, Yamamoto Y, Nakano I
    Neurology 66(7) 1103-4 2006
  • A case of spinocerebellar ataxia type 6 with its initial symptom of episodic ataxia-like phenotype
    Shimazaki H, Nakao K, Ishikawa K, Takiyama Y, Nakano I
    No To Shinkei 58(1) 63-7 2006
  • Polymerase chain reaction-based analysis using deaminated DNA of dodecamer expansions in CSTB, associated with Unverricht-Lundborg myoclonus epilepsy
    Horiuchi H, Osawa M, Furutani R, Morita M, Tian W, Awatsu Y, Shimazaki H, Umetsu K
    Genet Test 9(4) 328-33 2005
  • An autopsy case of origin-unidentified meningeal carcinomatosis presenting with monoradiculopathy multiplex in the lower extremities
    Rinsho Shinkeigaku 45(1):32-7 2005
  • Novel compound heterozygous mutations in sacsin-related ataxia
    J Neurol Sci 239(1): 101-104 2005
  • A phenotype without spasticity in sacsin-related ataxia.
    Neurology 64(12):2129-31 2005
  • A case of aceruloplasminemia presenting as cerebellar ataxia with homozygous mutation nt2602 delG
    No To Shinkei 56(10):885-9 2004
  • Identification of a SACS gene missense mutation in ARSACS
    Neurology 62 (1): 107-109 2004
  • Behcet's disease with huge supratentorial white matter lesions in brain MRI
    Nippon Naika Gakkai Zasshi 91(8):2466-8 2002
  • Identification of the GFAP gene mutation in hereditary adult-onset Alexander disease
    Ann Neurol 52(6):779-785 2002
  • A Japanese SPG4 family with a novel missense mutation of the SPG4 gene: intrafamilial variability in age at onset and clinical severity
    Acta Neurol Scand 106(6):387-91 2002
  • Early-onset ataxia with ocular motor apraxia and hypoalbuminemia:the aprataxin gene mutations
    Neurology 59(4):590-595 2002
  • A large Japanese SPG4 family with a novel insertion mutation of the SPG4 gene: a clinical and genetic study
    J Neurol Sci 185 : 63-68 2001
  • Meiotic instability of the CAG repeats in the SCA6/CACNAIA gene in two Japanese SCA6 families
    Journal of the Neurological Sciences 185(2):101-7 2001
  • Maternal anticipation in Machado-Joseph disease (MJD): some maternal factors independent of the number of CAG repeat units may play a role in genetic anticipation in a Japanese MJD family
    J Neurol Sci 155 : 141-145 1998
  • Neural information transferred from the putamen to the globus pallidus during learned movement in the monkey
    J Neurophysiol 76 : 3771-3786 1996
  • The gene for Machado-Joseph disease maps to human chromosome 14q
    Nat Genet 4 : 300-304 1993
  • Cerebral sinus thrombosis in a young man with hereditary protein C deficiency
    Rinsho Shinkeigaku 33(10):1083-5 1993
  • Physiological properties of projection neurons in the monkey striatum to the globus pallidus.
    Exp Brain Res 82 : 672-676 1990

Conference Presentations

  • Adult Chediak-Higashi syndrome presenting as spastic paraplegia, cerebellar ataxia and neuropathy
    SHIMAZAKI Haruo
    American Academy of Neurology 65th Annual Meeting 21 Mar. 2013
  • Homozygous nonsense mutations of C12orf65 gene in patients with spastic paraplegia, optic atrophy and neuropathy (SPG55)
    SHIMAZAKI Haruo, Takiyama Y, Ishiura H, Tsuji S, Goto Y, Nakano I
    2012 Annual Meeting of American Neurological Association 07 Oct. 2012
    American Neurological Association
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Conference Presentationsclose
  • Adult Chediak-Higashi syndrome presenting as spastic paraplegia, cerebellar ataxia and neuropathy
    SHIMAZAKI Haruo
    American Academy of Neurology 65th Annual Meeting 21 Mar. 2013
  • Homozygous nonsense mutations of C12orf65 gene in patients with spastic paraplegia, optic atrophy and neuropathy (SPG55)
    SHIMAZAKI Haruo, Takiyama Y, Ishiura H, Tsuji S, Goto Y, Nakano I
    2012 Annual Meeting of American Neurological Association 07 Oct. 2012
    American Neurological Association

Book

  • Spinocerebellar Ataxia
    SHIMAZAKI Haruo(Contributor Autosomal recessive spastic ataxia of Charlevoix-Saguenay: clinical, radiological and epidemiological aspects)
    InTech, Rijeka, Croatia Apr. 2012 ISBN:979-953-307-095-6
  • Pathogenesis of encephalitis
    SHIMAZAKI Haruo(Contributor Clinical aspects of anti-NMDA receptor encephalitis)
    InTech, Rijeka, Croatia Dec. 2011 ISBN:978-953-307-741-3
  • SCA6, in Research Advances in Spinocerebellar Ataxia and Spastic Paraplegia
    Research Signpost, Kerala, India 2008 ISBN:978-81-308-0233-6
  • EAOH/AOA1, in Research Advances in Spinocerebellar Ataxia and Spastic Paraplegia
    Research Signpost, Kerala, India 2008 ISBN:978-81-308-0233-6
Display all
Bookclose
  • Spinocerebellar Ataxia
    SHIMAZAKI Haruo(Contributor Autosomal recessive spastic ataxia of Charlevoix-Saguenay: clinical, radiological and epidemiological aspects)
    InTech, Rijeka, Croatia Apr. 2012 ISBN:979-953-307-095-6
  • Pathogenesis of encephalitis
    SHIMAZAKI Haruo(Contributor Clinical aspects of anti-NMDA receptor encephalitis)
    InTech, Rijeka, Croatia Dec. 2011 ISBN:978-953-307-741-3
  • SCA6, in Research Advances in Spinocerebellar Ataxia and Spastic Paraplegia
    Research Signpost, Kerala, India 2008 ISBN:978-81-308-0233-6
  • EAOH/AOA1, in Research Advances in Spinocerebellar Ataxia and Spastic Paraplegia
    Research Signpost, Kerala, India 2008 ISBN:978-81-308-0233-6

Outside Fund Adoption

  • Molecular Genetics of hereditary spinocerebellar ataxia and spastic paraplegia
    :Gene Science Research
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Outside Fund Adoptionclose
  • Molecular Genetics of hereditary spinocerebellar ataxia and spastic paraplegia
    :Gene Science Research


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