title: Hereditary Cerebellar Ataxias: A Korean Perspective.
abstract: Hereditary ataxia is a heterogeneous disorder characterized by progressive ataxia combined with/without peripheral neuropathy, extrapyramidal symptoms, pyramidal symptoms, seizure, and multiple systematic involvements. More than 35 autosomal dominant cerebellar ataxias have been designated as spinocerebellar ataxia, and there are 55 recessive ataxias that have not been named systematically. Conducting genetic sequencing to confirm a diagnosis is difficult due to the large amount of subtypes with phenotypic overlap. The prevalence of hereditary ataxia can vary among countries, and estimations of prevalence and subtype frequencies are necessary for planning a diagnostic strategy in a specific population. This review covers the various hereditary ataxias reported in the Korean population with a focus on the prevalence and subtype frequencies as the clinical characteristics of the various subtypes.
authors.affiliation: Department of Neurology, Soonchunhyang University Hospital, Soonchunhyang University School of Medicine, Seoul, Korea.
authors.forename: Ji Sun
authors.initials: JS
authors.lastname: Kim
authors.affiliation: Department of Neurology, Sungkyunkwan University School of Medicine, Seoul, Korea ; Neuroscience Center, Samsung Medical Center, Seoul, Korea.
authors.forename: Jin Whan
authors.initials: JW
authors.lastname: Cho
keywords: Cerebellar ataxia; Korea; Prevalence; Spinocerebellar ataxias