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Published in: Journal of Neurology 12/2018

01-12-2018 | Review

Dilemma of multiple system atrophy and spinocerebellar ataxias

Authors: Ming Li, Qianqian Ma, Xing Zhao, Can Wang, Huijie Wu, Jinyao Li, Wei Yang

Published in: Journal of Neurology | Issue 12/2018

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Abstract

Multiple system atrophy (MSA) and spinocerebellar ataxias (SCAs) are both progressive neurodegenerative disorders, which can manifest cerebellar dysfunctions and parkinsonism-related symptoms, although the former is sporadic and the latter is autosomal dominant disease. Routinely, diagnosis is primarily based on clinical information—thorough history and physical examination should be included. Provided family history obtained, distinguishing SCAs from MSA is easy. However, how can we diagnose MSA or SCAs, in case of insufficient and unconvinced clinical symptoms or family history? Especially, familial MSA cases had been reported recently. We may drop into a dilemma resulting from analogous manifestations between MSA and SCAs. Herein, we aim to give a comprehensive introduction of MSA and SCAs, mainly in phenotype and genotype, and then address the connection and difference between them. Recently, some studies had been put forward to figure out the overlapped features between MSA and SCAs. Through this review, we want to discuss the possibility of misdiagnosis between MSA and SCAs.
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Metadata
Title
Dilemma of multiple system atrophy and spinocerebellar ataxias
Authors
Ming Li
Qianqian Ma
Xing Zhao
Can Wang
Huijie Wu
Jinyao Li
Wei Yang
Publication date
01-12-2018
Publisher
Springer Berlin Heidelberg
Published in
Journal of Neurology / Issue 12/2018
Print ISSN: 0340-5354
Electronic ISSN: 1432-1459
DOI
https://doi.org/10.1007/s00415-018-8876-x

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