多系統萎縮症レジストリ

抄録

Multiple system atrophy (MSA) is a neurodegenerative disease characterized by autonomic failure with various combination of cerebellar ataxia, Parkinsonism and pyramidal signs with the average age at onset in late 50s. The prevalence of MSA in Japan has been estimated to be 12,000. The detailed natural history and molecular basis of MSA, however, still remain to be elucidated. To facilitate the research on MSA, we established the MSA registry in 2016. In this registry, detailed clinical information including Unified Multiple System Atrophy Rating Scale parts 1 and 2 has been collected in a prospective manner. The bioresource including genomic DNA, plasma and lymphoblastoid cell lines has been collected, and deposited to the Rare Disease Bank at The National Institutes of Biomedical Innovation, Health and Nutrition (NIBIOHN). To date, 530 patients with MSA have been registered in this registry. The detailed natural history of MSA established based on the MSA registry is expected to contribute to design future clinical trials.