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Clinical and genetic keys to cerebellar ataxia due to FGF14 GAA expansions

27 Dec 2023

Abstract excerpt

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 assess the size and frequency of FGF14 expanded alleles in individuals with cerebellar ataxia as compared with controls and to characterize genetic and clinical variability. Methods We sized this repeat in 1876 individuals from France sampled...

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PMID: 38150853
DOI: 10.1016/j.ebiom.2023.104931

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