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Focal dystonia as a presenting sign of spinocerebellar ataxia 17
Author(s) -
Hagenah Johann M.,
Zühlke Christine,
Hellenbroich Yorck,
Heide Wolfgang,
Klein Christine
Publication year - 2004
Publication title -
movement disorders
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 3.352
H-Index - 198
eISSN - 1531-8257
pISSN - 0885-3185
DOI - 10.1002/mds.10600
Subject(s) - dystonia , spinocerebellar ataxia , focal dystonia , ataxia , differential diagnosis , medicine , spasticity , cerebellar ataxia , dementia , atrophy , pathological , pathology , neuroscience , psychology , physical medicine and rehabilitation , disease
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. © 2003 Movement Disorder Society