The factors driving initiation of pathological expansion of tandem repeats remain largely
unknown. Here, we assessed the FGF14-SCA27B (GAA)•(TTC) repeat locus in 2,530 …

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 …

Repeat expansions in the FGF14 gene have recently been identified as a frequent cause of
autosomal dominant late-onset cerebellar ataxia (SCA27B). The threshold for pathogenicity …

Adult-onset cerebellar ataxias are a group of neurodegenerative conditions that challenge
both genetic discovery and molecular diagnosis. In this study, we identified an intronic (GAA) …

To the Editor: Pellerin et al.(Jan. 12 issue) 1 reported a dominant FGF14 GAA repeat
expansion in persons with late-onset cerebellar ataxia. They also identified persons who …

Trinucleotide repeat instability is a driver of human disease. Large expansions of (GAA) n
repeats in the first intron of the FXN gene are the cause Friedreich's ataxia (FRDA), a …

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 expansion ([GAA]≥ 250) in FGF14 is associated with the
late-onset neurodegenerative disorder, spinocerebellar ataxia 27B (SCA27B, GAA-FGF14 …

Dominantly inherited GAA repeat expansions in FGF14 are a common cause of
spinocerebellar ataxia (GAA-FGF14 ataxia; spinocerebellar ataxia 27B). Molecular …

Background Dominantly inherited GAA repeat expansions in FGF14 are a common cause of
spinocerebellar ataxia (GAA-FGF14 ataxia; SCA27B, late-onset). Molecular confirmation of …