Episodic Ataxias: Clinical and Genetic Features.

Author: Kwang Dong CHOI ¹ ; Jae Hwan CHOI
Author Information

1. Department of Neurology, College of Medicine, Pusan National University Hospital, Pusan National University School of Medicine and Biomedical Research Institute, Busan, Korea.
Publication Type:Review
Keywords: Episodic ataxia; KCNA1; CACNA1A
MeSH: Ataxia*; Humans; Inheritance Patterns; Korea
From:Journal of Movement Disorders 2016;9(3):129-135
CountryRepublic of Korea
Language:English
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.