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Article

A mutation in the fibroblast growth factor 14 gene is associated with autosomal dominant cerebellar ataxia [corrected].

American journal of human genetics - 1 Jan 2003

van Swieten John C, Brusse Esther, de Graaf Bianca M, Krieger Elmar, van de Graaf Raoul, de Koning Inge, Maat-Kievit Anneke, Leegwater Peter, Dooijes Dennis, Oostra Ben A, Heutink Peter

Abstract excerpt

Hereditary spinocerebellar ataxias (SCAs) are a clinically and genetically heterogeneous group of neurodegenerative disorders for which >/=14 different genetic loci have been identified. In some SCA types, expanded tri- or pentanucleotide repeats have been identified, and the length of these expansions correlates with the age at onset and with the severity of the clinical phenotype. In several other SCA types, no...

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Identifiers

PMID: 12489043
DOI: 10.1086/345488
PMCID: PMC378625

Genes

FGF14

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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.

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