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

Background An intronic GAA repeat expansion in FGF14 was recently identified as a cause
of GAA-FGF14 ataxia. We aimed to characterise the frequency and phenotypic profile of …

Relevant conflicts of interest/financial disclosures: DP, PI, ŞT, MCD, CA, M.-JD, MW, VR,
PJL, CB, and MR report no disclosures. MS has received consultancy honoraria from …

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 …

Nucleotide repeat expansions in the human genome are a well-known cause of
neurological disease. In the past decade, advances in DNA sequencing technologies have …

Tandem repeat DNA sequences constitute a significant proportion of the human genome.
While previously considered to be functionally inert, these sequences are now broadly …

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

Background Although pure GAA expansion is considered pathogenic in SCA27B, non-GAA
repeat motif is mostly mixed into longer repeat sequences. This study aimed to unravel the …

Late-onset cerebellar ataxia (LOCA) is a group of neurodegenerative disorders that manifest
with a progressive cerebellar syndrome after the age of 30 years and are often sporadic (ie …