Clinical variability associated with intronic FGF14 GAA repeat expansion in Japan.

ABSTRACT:

Background and objectives

The GAA repeat expansion within the fibroblast growth factor 14 (FGF14) gene has been found to be associated with late-onset cerebellar ataxia. This study aimed to investigate the genetic causes of cerebellar ataxia in patients in Japan.

Methods

We collected a case series of 940 index patients who presented with chronic cerebellar ataxia and remained genetically undiagnosed after our preliminary genetic screening. To investigate the FGF14 repeat locus, we employed an integrated diagnostic strategy that involved fluorescence amplicon length analysis polymerase chain reaction (PCR), repeat-primed PCR, and long-read sequencing.

Results

Pathogenic FGF14 GAA repeat expansions were detected in 12 patients from 11 unrelated families. The median size

SUBMITTER: Ando M 

PROVIDER: S-EPMC10791012 | biostudies-literature | 2024 Jan

REPOSITORIES: biostudies-literature