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Article

Mutation at the SCA17 locus is not a common cause of primary dystonia.

Journal of neurology - 1 Oct 2004

Grundmann Kathrin, Laubis-Herrmann Ulrike, Dressler Dirk, Vollmer-Haase Juliane, Bauer Peter, Stuhrmann Manfred, Schulte Thorsten, Schöls Ludger, Topka Helge, Riess Olaf

Abstract excerpt

Spinocerebellar ataxia type 17 (SCA17) is a dominant progressive neurodegenerative disorder, caused by a triplet repeat expansion within the TATA-binding protein. As well as ataxia and dementia, Parkinsonism and dystonia are common in SCA17. In some pedigrees focal dystonia in the absence of ataxia has been described as a main clinical feature. To evaluate the relevance of SCA17 mutations for primary dystonia, we...

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Identifiers

PMID: 15503103
DOI: 10.1007/s00415-004-0520-2

Genes

TBP

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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