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Article

Spinocerebellar ataxia type 17 (SCA17): oculomotor phenotype and clinical characterization of 15 Italian patients.

Journal of neurology - 1 Nov 2007

Mariotti Caterina, Alpini Dario, Fancellu Roberto, Soliveri Paola, Grisoli Marina, Ravaglia Sabrina, Lovati Carlo, Fetoni Vincenza, Giaccone Giorgio, Castucci Alessia, Taroni Franco, Gellera Cinzia, Di Donato Stefano

Abstract excerpt

SCA17 is a rare type of autosomal dominant spinocerebellar ataxia caused by a CAG/CAA expansion in the gene encoding the TATA-binding protein (TBP). We screened for triplet expansion in the TBP gene 110 subjects with progressive cerebellar ataxia and 94 subjects with Huntington-like phenotype negative at specific molecular tests. SCA17 mutation-positive subjects were found in both groups of patients. Expanded...

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Identifiers

PMID: 17934876
DOI: 10.1007/s00415-007-0579-7

Genes

TBP

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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