Episodic Ataxias: Clinical and Genetic Features
Journal of Movement Disorders
;
: 129-135, 2016.
Artigo
em Inglês
| WPRIM
| ID: wpr-180369
ABSTRACT
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.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Ataxia
/
Padrões de Herança
/
Coreia (Geográfico)
Tipo de estudo:
Estudo prognóstico
Limite:
Humanos
País/Região como assunto:
Ásia
Idioma:
Inglês
Revista:
Journal of Movement Disorders
Ano de publicação:
2016
Tipo de documento:
Artigo
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