Hereditary ataxias, especially when presenting sporadically in adulthood, present a
particular diagnostic challenge owing to their great clinical and genetic heterogeneity …

Intronic GAA repeat expansions in the fibroblast growth factor 14 gene (FGF14) have
recently been shown to be a common cause of adult-onset degenerative ataxia …

Repeat expansions in FGF14 cause autosomal dominant late-onset cerebellar ataxia
(SCA27B) with estimated pathogenic thresholds of 250 (incomplete penetrance) and 300 …

A pathogenic GAA repeat expansion in the first intron of the fibroblast growth factor 14 gene
(FGF14) has been recently identified as the cause of spinocerebellar ataxia 27B (SCA27B) …

The factors driving or preventing pathological expansion of tandem repeats remain largely
unknown. Here, we assessed the FGF14 (GAA)·(TTC) repeat locus in 2,530 individuals by …

Background SCA27B caused by FGF14 intronic heterozygous GAA expansions with at least
250 repeats accounts for 10–60% of cases with unresolved cerebellar ataxia. We aimed to …

Background Intronic GAA repeat expansions in the fibroblast growth factor 14 gene (FGF14)
have recently been identified as a common cause of ataxia with potential phenotypic overlap …

Background GAA-FGF14 disease/spinocerebellar ataxia 27B is a recently described
neurodegenerative disease caused by (GAA)≥ 250 expansions in the fibroblast growth …

Background and purpose Dominantly inherited GAA repeat expansions in the fibroblast
growth factor 14 (FGF14) gene have recently been shown to cause spinocerebellar ataxia …

Ashton C et al report a retrospective multi-centre cohort of 34 patients from Canada, France,
Austria and Australia with spinocerebellar ataxia 27B, describing the common feature of …