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Focal dystonia as a presenting sign of spinocerebellar ataxia 17

✍ Scribed by Johann M. Hagenah; Christine Zühlke; Yorck Hellenbroich; Wolfgang Heide; Christine Klein

Publisher
John Wiley and Sons
Year
2004
Tongue
English
Weight
542 KB
Volume
19
Category
Article
ISSN
0885-3185

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✦ Synopsis

We report on the clinical manifestation of spinocerebellar ataxia 17 (SCA17) in 3 members of a German family, in whom the pathological repeat expansion in the TATA-binding protein gene ranged from 53 to 55 repeats (normal: 29-42). The main clinical features were focal dystonia as presenting sign, followed by cerebellar ataxia, and, in the later course of one case, dementia and marked spasticity with signs of cerebellar and cerebral atrophy on brain computed tomography (CT) scan. In conclusion, SCA17 mutations should be considered in the differential diagnosis of focal dystonia.

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