期刊
CLINICAL NEUROLOGY AND NEUROSURGERY
卷 229, 期 -, 页码 -出版社
ELSEVIER
DOI: 10.1016/j.clineuro.2023.107721
关键词
Dystonia; Dopa-responsive dystonia; Spinocerebellar ataxia type 6; Spinocerebellar ataxia; Dopamine; Levodopa
SCA6 typically presents with cerebellar ataxia and rarely with extra-pyramidal symptoms. We report the first case of SCA6 with dopa-responsive dystonia. A 75-year-old woman presented with progressive cerebellar ataxia and dystonia in the left upper limb. Genetic testing confirmed SCA6 diagnosis. Oral levodopa improved her dystonia, allowing her to raise her left hand. Oral levodopa may be beneficial in the early treatment of SCA6-associated dystonia.
Spinocerebellar ataxia 6 (SCA6) often presents with pure cerebellar ataxia. It is rarely accompanied by extra -pyramidal 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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