The FGF14 GAA repeat expansion is a major cause of ataxia in the Cypriot population.

ABSTRACT: Dominantly inherited intronic GAA repeat expansions in the fibroblast growth factor 14 gene have recently been shown to cause spinocerebellar ataxia 27B. Currently, the pathogenic threshold of (GAA)_≥300 repeat units is considered highly penetrant, while (GAA)_250-299 is likely pathogenic with reduced penetrance. This study investigated the frequency of the GAA repeat expansion and the phenotypic profile in a Cypriot cohort with unresolved late-onset cerebellar ataxia. We analysed this trinucleotide repeat in 155 patients with late-onset cerebellar ataxia and 227 non-neurological disease controls. The repeat locus was examined by long-range PCR followed by fragment analysis using capillary electrophoresis, agarose gel electrophoresis and automated electrophoresis. A com

SUBMITTER: Livanos I 

PROVIDER: S-EPMC11724429 | biostudies-literature | 2025

REPOSITORIES: biostudies-literature