Focal dystonia as a presenting sign of spinocerebellar ataxia 17

Johann M. Hagenah*, Christine Zühlke, Yorck Hellenbroich, Wolfgang Heide, Christine Klein

*Corresponding author for this work
47 Citations (Scopus)

Abstract

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.

Original languageEnglish
JournalMovement Disorders
Volume19
Issue number2
Pages (from-to)217-220
Number of pages4
ISSN0885-3185
DOIs
Publication statusPublished - 19.03.2004

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