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Cerebellar Ataxia in RFC1 Spectrum Disorders Masahiro Ando 1 , Hiroshi Takashima 1 1Department of Neurology and Geriatrics, Kagoshima University Graduate School of Medical and Dental Sciences Keyword: RFC1 , 小脳性運動失調 , 多系統萎縮症 , cerebellar ataxia , multiple system atrophy , MSA pp.1273-1279
Published Date 2022/11/1
DOI https://doi.org/10.11477/mf.1416202227
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Abstract

Replication factor C subunit 1 (RFC1) spectrum disorders are characterized by a variety of symptoms, including cerebellar ataxia, sensory neuropathy, and vestibular dysfunction, which may occur singularly or in various combinations. RFC1 spectrum disorders may mimic the clinical manifestations and imaging findings of multiple system atrophy. We describe the prevalence, genetic features, and imaging findings of RFC1 spectrum disorders.


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電子版ISSN 1344-8129 印刷版ISSN 1881-6096 医学書院

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