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Familial Spinocerebellar Ataxia Type 2 Parkinsonism Presenting as Intractable Oromandibular Dystonia

Woo, Kyung Ah; Lee, Jee-Young; Jeon, Beomseok

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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Also Published In

Title
Tremor and Other Hyperkinetic Movements
DOI
https://doi.org/10.7916/D8087PB6

More About This Work

Academic Units
Center for Parkinson's Disease and Other Movement Disorders
Published Here
December 4, 2019