The genetic landscape and phenotypic spectrum of GAA-FGF14 ataxia in China: a large cohort study.

ABSTRACT:

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 GAA-FGF14 ataxia in a large Chinese ataxia cohort.

Methods

A total of 1216 patients that included 399 typical late-onset cerebellar ataxia (LOCA), 290 early-onset cerebellar ataxia (EOCA), and 527 multiple system atrophy with predominant cerebellar ataxia (MSA-c) were enrolled. Long-range and repeat-primed PCR were performed to screen for GAA expansions in FGF14. Targeted long-read and whole-genome sequencing were performed to determine repeat size and sequence configuration. A multi-modal study including clinical assessment, MRI, and neurofilament light chain was conducted for disease assessment.

Fin

SUBMITTER: Ouyang R 

PROVIDER: S-EPMC10960143 | biostudies-literature | 2024 Apr

REPOSITORIES: biostudies-literature