Hereditary Cerebellar Ataxias: A Korean Perspective
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 spinoc...
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| Format: | Article |
| Language: | English |
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Korean Movement Disorder Society
2015-05-01
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| Series: | Journal of Movement Disorders |
| Subjects: | |
| Online Access: | http://e-jmd.org/upload/jmd-8-2-67.pdf |
| _version_ | 1797716034547875840 |
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| author | Ji Sun Kim Jin Whan Cho |
| author_facet | Ji Sun Kim Jin Whan Cho |
| author_sort | Ji Sun Kim |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-03-12T08:15:35Z |
| format | Article |
| id | doaj.art-263e137f67dd4b53ba7756e3431e16b8 |
| institution | Directory Open Access Journal |
| issn | 2005-940X 2093-4939 |
| language | English |
| last_indexed | 2024-03-12T08:15:35Z |
| publishDate | 2015-05-01 |
| publisher | Korean Movement Disorder Society |
| record_format | Article |
| series | Journal of Movement Disorders |
| spelling | doaj.art-263e137f67dd4b53ba7756e3431e16b82023-09-02T18:53:32ZengKorean Movement Disorder SocietyJournal of Movement Disorders2005-940X2093-49392015-05-0182677510.14802/jmd.15006131Hereditary Cerebellar Ataxias: A Korean PerspectiveJi Sun Kim0Jin Whan Cho1 Department of Neurology, Soonchunhyang University Hospital, Soonchunhyang University School of Medicine, Seoul, Korea Department of Neurology, Sungkyunkwan University School of Medicine, Seoul, KoreaHereditary 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.http://e-jmd.org/upload/jmd-8-2-67.pdfCerebellar ataxiaSpinocerebellar ataxiasKoreaPrevalence |
| spellingShingle | Ji Sun Kim Jin Whan Cho Hereditary Cerebellar Ataxias: A Korean Perspective Journal of Movement Disorders Cerebellar ataxia Spinocerebellar ataxias Korea Prevalence |
| title | Hereditary Cerebellar Ataxias: A Korean Perspective |
| title_full | Hereditary Cerebellar Ataxias: A Korean Perspective |
| title_fullStr | Hereditary Cerebellar Ataxias: A Korean Perspective |
| title_full_unstemmed | Hereditary Cerebellar Ataxias: A Korean Perspective |
| title_short | Hereditary Cerebellar Ataxias: A Korean Perspective |
| title_sort | hereditary cerebellar ataxias a korean perspective |
| topic | Cerebellar ataxia Spinocerebellar ataxias Korea Prevalence |
| url | http://e-jmd.org/upload/jmd-8-2-67.pdf |
| work_keys_str_mv | AT jisunkim hereditarycerebellarataxiasakoreanperspective AT jinwhancho hereditarycerebellarataxiasakoreanperspective |