Hereditary Cerebellar Ataxias: A Korean Perspective
DC Field | Value | Language |
---|---|---|
dc.contributor.author | Kim, Ji Sun | - |
dc.contributor.author | Cho, Jin Whan | - |
dc.date.accessioned | 2021-08-11T20:25:35Z | - |
dc.date.available | 2021-08-11T20:25:35Z | - |
dc.date.issued | 2015-05 | - |
dc.identifier.issn | 2005-940X | - |
dc.identifier.issn | 2093-4939 | - |
dc.identifier.uri | https://scholarworks.bwise.kr/sch/handle/2021.sw.sch/10708 | - |
dc.description.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. | - |
dc.format.extent | 9 | - |
dc.language | 영어 | - |
dc.language.iso | ENG | - |
dc.publisher | 대한파킨슨병및이상운동질환학회 | - |
dc.title | Hereditary Cerebellar Ataxias: A Korean Perspective | - |
dc.type | Article | - |
dc.publisher.location | 대한민국 | - |
dc.identifier.doi | 10.14802/jmd.15006 | - |
dc.identifier.wosid | 000215670000003 | - |
dc.identifier.bibliographicCitation | Journal Of Movement Disorders, v.8, no.2, pp 67 - 75 | - |
dc.citation.title | Journal Of Movement Disorders | - |
dc.citation.volume | 8 | - |
dc.citation.number | 2 | - |
dc.citation.startPage | 67 | - |
dc.citation.endPage | 75 | - |
dc.type.docType | Review | - |
dc.description.isOpenAccess | N | - |
dc.relation.journalResearchArea | Neurosciences & Neurology | - |
dc.relation.journalWebOfScienceCategory | Clinical Neurology | - |
dc.subject.keywordAuthor | Cerebellar ataxia | - |
dc.subject.keywordAuthor | Spinocerebellar ataxias | - |
dc.subject.keywordAuthor | Korea | - |
dc.subject.keywordAuthor | Prevalence | - |
Items in ScholarWorks are protected by copyright, with all rights reserved, unless otherwise indicated.
(31538) 22, Soonchunhyang-ro, Asan-si, Chungcheongnam-do, Republic of Korea+82-41-530-1114
COPYRIGHT 2021 by SOONCHUNHYANG UNIVERSITY ALL RIGHTS RESERVED.
Certain data included herein are derived from the © Web of Science of Clarivate Analytics. All rights reserved.
You may not copy or re-distribute this material in whole or in part without the prior written consent of Clarivate Analytics.