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Article

Focal dystonia as a presenting sign of spinocerebellar ataxia 17.

Movement disorders : official journal of the Movement Disorder Society - 1 Feb 2004

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

Abstract excerpt

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...

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Identifiers

PMID: 14978680
DOI: 10.1002/mds.10600

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Focal dystonia as a presenting sign of spinocerebellar ataxia 17.PMID 14978680Read ↗

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Spinocerebellar ataxia type 17 is caused by mutations in the TATA-box binding protein.Semantic proximity Read ↗

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Early-onset SCA17 with 43 TBP repeats: expanding the phenotype?Semantic proximity Read ↗

Mutation at the SCA17 locus is not a common cause of primary dystonia.Semantic proximity Read ↗

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