Article

Long-read sequencing identifies <i>FGF14</i> repeat expansions in Parkinson’s disease

2025-08-19

Abstract excerpt

Pathogenic GAA repeat expansions in FGF14 are an established cause of late-onset cerebellar ataxia, but have not been linked to Parkinson’s disease (PD). Given emerging evidence that repeat expansions in ataxia-associated genes like RFC1 , can contribute to atypical or familial forms of PD, we investigated whether FGF14 expansions might play a similar role. Using long-read whole-genome sequencing on 411 individ...

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Literature Corpus work: d78699a8-d901-5dec-925c-8c76a8304d07
DOI: 10.1101/2025.08.14.25333596

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