SCA2 family presenting as typical Parkinson's disease: 34 year follow up
- Authors
- Kim, Young Eun; Jeon, Beomseok; Farrer, Matthew J.; Scott, Erika; Guella, Ilaria; Park, Sung Sup; Kim, Jong Min; Park, Hye Young; Kim, Aryun; Son, Young Don; Cho, Zang Hee
- Issue Date
- Jul-2017
- Publisher
- ELSEVIER SCI LTD
- Keywords
- SCA2; Familial Parkinson' s disease; Genetic; PET; MRI
- Citation
- PARKINSONISM & RELATED DISORDERS, v.40, pp.69 - 72
- Journal Title
- PARKINSONISM & RELATED DISORDERS
- Volume
- 40
- Start Page
- 69
- End Page
- 72
- URI
- https://scholarworks.bwise.kr/gachon/handle/2020.sw.gachon/5942
- DOI
- 10.1016/j.parkreldis.2017.04.003
- ISSN
- 1353-8020
- 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.
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