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Reduced Age‐Dependent Penetrance of a Large FGF14 GAA Repeat Expansion in a 74‐Year‐Old Woman from a German Family with SCA27B

1 Jul 2024

Abstract excerpt

Spinocerebellar ataxia 27B (SCA27B) is a recently described autosomal dominant cerebellar ataxia caused by an intronic GAA repeat expansion in the FGF14 gene.1 Since SCA27B is one of the most common genetic ataxias worldwide,2, 3 a better understanding of disease penetrance is essential for improving genetic counseling and management of at-risk individuals, as well as for guiding eligibility assessment for future...

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PMID: 38949032
DOI: 10.1002/mds.29915

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