Episodic Ataxias: Clinical and Genetic Features

Episodic ataxia (EA) is a clinically heterogeneous group of disorders that are characterized by recurrent spells of truncal ataxia and incoordination lasting minutes to hours. Most have an autosomal dominant inheritance pattern. To date, 8 subtypes have been defined according to clinical and genetic...

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Bibliographic Details
Published inJournal of movement disorders Vol. 9; no. 3; pp. 129 - 135
Main Authors Choi, Kwang-Dong, Choi, Jae-Hwan
Format Journal Article
LanguageEnglish
Published Korea (South) The Korean Movement Disorder Society 01.09.2016
대한파킨슨병및이상운동질환학회
Subjects
Review
신경과학
CACNA1A
KCNA1
Episodic ataxia
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ISSN2005-940X
2093-4939
DOI10.14802/jmd.16028

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Summary:Episodic ataxia (EA) is a clinically heterogeneous group of disorders that are characterized by recurrent spells of truncal ataxia and incoordination lasting minutes to hours. Most have an autosomal dominant inheritance pattern. To date, 8 subtypes have been defined according to clinical and genetic characteristics, and five genes are known to be linked to EAs. Both EA1 and EA2, which are caused by mutations in KCNA1 and CACNA1A, account for the majority of EA, but many patients with no identified mutations still exhibit EA-like clinical features. Furthermore, genetically confirmed EAs have mostly been identified in Caucasian families. In this article, we review the current knowledge on the clinical and genetic characteristics of EAs. Additionally, we summarize the phenotypic features of the genetically confirmed EA2 families in Korea.
Bibliography:ObjectType-Article-2
SourceType-Scholarly Journals-1
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ObjectType-Review-1
G704-SER000004511.2016.9.3.001
ISSN:2005-940X
2093-4939
DOI:10.14802/jmd.16028