Familial Spinocerebellar Ataxia Type 2 Parkinsonism Presenting as Intractable Oromandibular Dystonia
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. The affected members presented with levodopa-responsive parkinsonism without cerebellar ataxia. Some show...
| Main Authors: | , , |
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| Format: | Article |
| Language: | English |
| Published: |
Ubiquity Press
2019-02-01
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| Series: | Tremor and Other Hyperkinetic Movements |
| Subjects: | |
| Online Access: | https://tremorjournal.org/index.php/tremor/article/view/611 |
| Summary: | 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.
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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| ISSN: | 2160-8288 |