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Episodic Ataxias: Clinical and Genetic Features
Kwang-Dong Choi1, Jae-Hwan Choi2
1Department of Neurology, College of Medicine, Pusan National University Hospital, Pusan National University School of Medicine and Biomedical Research Institute, Busan, Korea.
Journal of Movement Disorders
|September 27, 2016
Summary
Episodic ataxia (EA) comprises varied disorders with recurrent ataxia spells. This review covers EA subtypes, genetic links, and Korean EA2 family phenotypes.
Area of Science:
- Neurology
- Genetics
- Rare Diseases
Background:
- Episodic ataxia (EA) is a group of rare neurological disorders.
- Characterized by recurrent episodes of ataxia and incoordination.
- Typically follows an autosomal dominant inheritance pattern.
Purpose of the Study:
- To review current knowledge on episodic ataxia (EA) clinical and genetic characteristics.
- To summarize phenotypic features of genetically confirmed EA2 families in Korea.
Main Methods:
- Literature review of episodic ataxia (EA) subtypes and genetic links.
- Analysis of phenotypic data from Korean EA2 families.
Main Results:
- Eight EA subtypes are defined, with mutations in KCNA1 and CACNA1A linked to EA1 and EA2, respectively.
- These account for most identified EA cases.
- Genetically confirmed EAs are predominantly reported in Caucasian families, highlighting a gap in global data.
Conclusions:
- Episodic ataxia (EA) presents diverse clinical and genetic profiles.
- Further research is needed to understand EA in non-Caucasian populations.
- This review provides insights into EA2 in Korea.
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