Article

Advancing molecular, phenotypic and mechanistic insights of<i>FGF14</i>pathogenic expansions (SCA27B)

2024-01-16

Abstract excerpt

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 was estimated to range from 250 (incomplete penetrance) to 300 AAG repeats (full penetrance) based on expansion sizes observed in patients and controls. However, the full sequences of pathogenic and non-pathogenic alleles remain largely u...

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Identifiers and source

Literature Corpus work: 855cc274-a017-591c-b1c7-3847681d2839
DOI: 10.1101/2024.01.15.23300194

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