森田 光哉

BACKGROUND: Primary lateral sclerosis (PLS) is an extremely rare condition; therefore, to date no clinical studies have been conducted. The Primary Lateral Sclerosis Functional Rating Scale (PLSFRS) was developed in the United States of America. The PLSFRS is a crucial assessment scale for international collaborative research and future clinical trials for PLS. It is useful for evaluating medical conditions through face-to-face assessments and telephone interviews such as when a face-to-face assessment is not possible due to disasters or the burden of hospital visits. This study assessed the reliability and consistency of in-person and telephone interviews using the Japanese version of the PLSFRS. METHODS: We enrolled 19 Japanese patients who met the specific criteria for inclusion at the six collaborating institutions. The PLSFRS assessments were performed by two evaluators at defined time points and analyzed for intra-rater and inter-rater reliability and consistency between the in-person and telephone interviews. RESULTS: The Japanese version of the PLSFRS was developed by a specialized company and translator, and modified to consider the Japanese lifestyle through a consensus among motor neuron specialists. The quadratic-weighted kappa coefficients for the intra-rater and the inter-rater agreement were substantial (intra-rater: 0.691-1.000, inter-rater: 0.634-1.000). Moreover, the intraclass correlation coefficient for the PLSFRS total score was 0.997 (95% confidence interval, 0.992-0.999). CONCLUSIONS: This study provides results regarding the Japanese version of the PLSFRS intra-rater and inter-rater reliability and consistency between in-person and telephone interviews.

Amyotrophic lateral sclerosis (ALS) is an adult-onset intractable motor neuron disease characterized by selective degeneration of cortical neurons in the frontotemporal lobe and motor neurons in the brainstem and spinal cord. Impairment of these neural networks causes progressive muscle atrophy and weakness that spreads throughout the body, resulting in life-threatening bulbar palsy and respiratory muscle paralysis. However, no therapeutic strategy has yet been established to halt ALS progression. Although evidence for clinical practice in ALS remains insufficient, novel research findings have steadily accumulated in recent years. To provide updated evidence-based or expert consensus recommendations for the diagnosis and management of ALS, the ALS Clinical Practice Guideline Development Committee, approved by the Japanese Society of Neurology, revised and published the Japanese clinical practice guidelines for the management of ALS in 2023. In this guideline, disease-modifying therapies that have accumulated evidence from randomized controlled trials were defined as "Clinical Questions," in which the level of evidence was determined by systematic reviews. In contrast, "Questions and Answers" were defined as issues of clinically important but insufficient evidence, according to reports of a small number of cases, observational studies, and expert opinions. Based on a literature search performed in February 2022, recommendations were reached by consensus, determined by an independent panel, reviewed by external reviewers, and submitted for public comments by Japanese Society of Neurology members before publication. In this article, we summarize the revised Japanese guidelines for ALS, highlighting the regional and cultural diversity of care processes and decision-making. The guidelines cover a broad range of essential topics such as etiology, diagnostic criteria, disease monitoring and treatments, management of symptoms, respiration, rehabilitation, nutrition, metabolism, patient instructions, and various types of care support. We believe that this summary will help improve the daily clinical practice for individuals living with ALS and their caregivers.

INTRODUCTION: Progressive supranuclear palsy (PSP) and corticobasal degeneration (CBD) manifest with variable clinical features. We initiated a multicenter prospective registry study-the Japanese Longitudinal Biomarker Study in PSP and CBD-in November 2014 at 45 Japanese institutions to collect clinical information and biological samples to elucidate the natural courses and diagnostic biomarkers of PSP/CBD. METHODS: Initial symptoms, clinical features, and scores (Progressive Supranuclear Palsy Rating Scale [PSPRS], Barthel Index, Mini-Mental State Examination, and Frontal Assessment Battery) of patients clinically diagnosed with PSP/corticobasal syndrome (CBS) at the first registration were analyzed. PSPRS score progression in the initial 8 years and predictive factors were examined. RESULTS: As of October 2022, first registration had been conducted for 349 patients-57 with probable/possible Richardson's syndrome (RS), 133 with possible CBS, 41 with overlapping CBS and PSP criteria (RS/CBS group), 20 with PSP subtypes other than RS, and 98 who did not fulfill the PSP or CBS criteria. Among the RS, CBS, and RS/CBS groups, the RS group exhibited the best scores. Initial symptoms of personality change and asymmetric onset were correlated with the total PSPRS score. The average PSPRS score increment by the second registration (n = 116 patients) was 11.8 in all three groups, and progression was correlated with cognitive dysfunction. Seventy patients died during the study period. The 5-year survival rate from onset was approximately 90 %. CONCLUSION: There were fewer severe clinical features in the RS group than in the CBS group. Cognitive dysfunction may be important in predicting clinical severity and disease progression.

Background: The Columbia Muscle Cramp Scale (CMCS) is a useful tool for evaluating muscle cramps commonly observed in patients with amyotrophic lateral sclerosis (ALS). The CMCS comprises five subdomains: triggering factors, frequency, location, severity, and the degree to which cramps affect overall daily living. Aim: This study aimed to evaluate the reliability of the CMCS, which was translated into Japanese. Methods: Thirty patients with ALS (17 men and 13 women) from seven facilities were evaluated twice by two different evaluators (doctors, nurses, physical therapists, occupational therapists, and speech-language-hearing therapists). The degree of inter- and intra-rater agreement was evaluated using kappa statistics. Weighted kappa statistics and 95% confidence intervals accounted for multiple-order responses. Results: The average age was 60.4 (standard deviation: 10.4, range: 39–77) years. The kappa statistics for the inter-rater reliability of the CMCS items showed moderate to very good agreement, ranging from 0.56 (cramp triggering) to 0.91 (daily activity) at visit 1 and 0.51 (severity) to 0.96 (daily activity) at visit 2. The kappa statistics for the intra-rater reliability of the CMCS items also showed moderate to good agreement, ranging from 0.45 (frequency) to 0.79 (cramp triggering). Conclusion: The Japanese version of the CMCS demonstrated intra- and inter-rater reliability agreement and is expected to be useful for evaluating muscle cramps in patients with ALS.