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Dopa-responsive dystonia in spinocerebellar ataxia 6: A case report.
Ikezawa, Jun; Shimazaki, Rui; Tobisawa, Shinsuke; Sugaya, Keizo; Takahashi, Kazushi.
Affiliation
  • Ikezawa J; Department of Neurology, Tokyo Metropolitan Neurological Hospital, 2-6-1 Musashidai, Fuchu-shi, Tokyo 183-0042, Japan. Electronic address: jun_ikezawa@tmhp.jp.
  • Shimazaki R; Department of Neurology, Tokyo Metropolitan Neurological Hospital, 2-6-1 Musashidai, Fuchu-shi, Tokyo 183-0042, Japan; Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP), 4-1-1 Ogawahigashi, Kodaira, Tokyo 187-8502, Japan.
  • Tobisawa S; Department of Neurology, Tokyo Metropolitan Neurological Hospital, 2-6-1 Musashidai, Fuchu-shi, Tokyo 183-0042, Japan.
  • Sugaya K; Department of Neurology, Tokyo Metropolitan Neurological Hospital, 2-6-1 Musashidai, Fuchu-shi, Tokyo 183-0042, Japan.
  • Takahashi K; Department of Neurology, Tokyo Metropolitan Neurological Hospital, 2-6-1 Musashidai, Fuchu-shi, Tokyo 183-0042, Japan.
Clin Neurol Neurosurg ; 229: 107721, 2023 06.
Article in En | MEDLINE | ID: mdl-37084651
ABSTRACT
Spinocerebellar ataxia 6 (SCA6) often presents with pure cerebellar ataxia. It is rarely accompanied by extrapyramidal symptoms, such as dystonia and parkinsonism. Here, we describe a case of SCA6 with dopa-responsive dystonia for the first time. A 75-year-old woman was admitted to the hospital with slowly progressive cerebellar ataxia and dystonia in the left upper limb for the past six years. Genetic testing confirmed the diagnosis of SCA6. Her dystonia improved with oral levodopa, and she was able to raise her left hand. Oral levodopa administration may provide early-phase therapeutic benefits for SCA6-associated dystonia.
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Cerebellar Ataxia / Spinocerebellar Ataxias / Dystonia Type of study: Etiology_studies Limits: Aged / Female / Humans Language: En Journal: Clin Neurol Neurosurg Year: 2023 Document type: Article
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Cerebellar Ataxia / Spinocerebellar Ataxias / Dystonia Type of study: Etiology_studies Limits: Aged / Female / Humans Language: En Journal: Clin Neurol Neurosurg Year: 2023 Document type: Article