SCA2 family presenting as typical Parkinson's disease: 34 year follow up
DC Field | Value | Language |
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dc.contributor.author | Kim, Young Eun | - |
dc.contributor.author | Jeon, Beomseok | - |
dc.contributor.author | Farrer, Matthew J. | - |
dc.contributor.author | Scott, Erika | - |
dc.contributor.author | Guella, Ilaria | - |
dc.contributor.author | Park, Sung Sup | - |
dc.contributor.author | Kim, Jong Min | - |
dc.contributor.author | Park, Hye Young | - |
dc.contributor.author | Kim, Aryun | - |
dc.contributor.author | Son, Young Don | - |
dc.contributor.author | Cho, Zang Hee | - |
dc.date.available | 2020-02-27T18:41:05Z | - |
dc.date.created | 2020-02-06 | - |
dc.date.issued | 2017-07 | - |
dc.identifier.issn | 1353-8020 | - |
dc.identifier.uri | https://scholarworks.bwise.kr/gachon/handle/2020.sw.gachon/5942 | - |
dc.description.abstract | Objective: We describe a Korean family in SCA2 with long-duration levodopa-responsive parkinsonism without cerebellar ataxia. Methods: Clinical evaluation, genetic testing, and extensive imaging studies were done. Results: All family members showed a typical Parkinson's disease phenotype without cerebellar ataxia for a long disease duration (up to 34 years). Genetic testing showed 40 CAG repeats and 4 CAA interruptions which is the longest repeat number among the families or patients manifesting with a parkinsonian phenotype without ataxia. Structural imaging (7T MRI and brain CT) showed a normal cerebellum and functional images showed nigrostriatal dopaminergic degeneration and normal D2 receptor binding activity, in agreement with the clinical phenotype. Conclusion: SCA2 should be considered as a cause of typical Parkinson's disease phenotype even in the absence of cerebellar ataxia. (C) 2017 Elsevier Ltd. All rights reserved. | - |
dc.language | 영어 | - |
dc.language.iso | en | - |
dc.publisher | ELSEVIER SCI LTD | - |
dc.relation.isPartOf | PARKINSONISM & RELATED DISORDERS | - |
dc.subject | SPINOCEREBELLAR ATAXIA TYPE-2 | - |
dc.subject | EXPANSION | - |
dc.title | SCA2 family presenting as typical Parkinson's disease: 34 year follow up | - |
dc.type | Article | - |
dc.type.rims | ART | - |
dc.description.journalClass | 1 | - |
dc.identifier.wosid | 000404703000011 | - |
dc.identifier.doi | 10.1016/j.parkreldis.2017.04.003 | - |
dc.identifier.bibliographicCitation | PARKINSONISM & RELATED DISORDERS, v.40, pp.69 - 72 | - |
dc.identifier.scopusid | 2-s2.0-85018794937 | - |
dc.citation.endPage | 72 | - |
dc.citation.startPage | 69 | - |
dc.citation.title | PARKINSONISM & RELATED DISORDERS | - |
dc.citation.volume | 40 | - |
dc.contributor.affiliatedAuthor | Son, Young Don | - |
dc.type.docType | Article | - |
dc.subject.keywordAuthor | SCA2 | - |
dc.subject.keywordAuthor | Familial Parkinson&apos | - |
dc.subject.keywordAuthor | s disease | - |
dc.subject.keywordAuthor | Genetic | - |
dc.subject.keywordAuthor | PET | - |
dc.subject.keywordAuthor | MRI | - |
dc.subject.keywordPlus | SPINOCEREBELLAR ATAXIA TYPE-2 | - |
dc.subject.keywordPlus | EXPANSION | - |
dc.relation.journalResearchArea | Neurosciences & Neurology | - |
dc.relation.journalWebOfScienceCategory | Clinical Neurology | - |
dc.description.journalRegisteredClass | scie | - |
dc.description.journalRegisteredClass | scopus | - |
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