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- 2019
Familial Spinocerebellar Ataxia Type 2 Parkinsonism Presenting as Intractable Oromandibular DystoniaDOI: 10.7916/D8087PB6 Keywords: Dystonia, spinocerebellar ataxia type 2, Parkinson’s disease Abstract: We have previously described a Korean family afflicted with spinocerebellar ataxia type 2 (SCA2) parkinsonism in which genetic analysis revealed CAG expansion of 40 repeats in the ATXN2 gene.1 The affected members presented with levodopa‐responsive parkinsonism without cerebellar ataxia. Some showed motor fluctuation and dyskinesia, further mimicking idiopathic Parkinson’s disease (PD). Herein, we report a member of this family who developed jaw‐opening and lingual‐protrusion dystonia as the chief presentation
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