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RFC1: Motifs and phenotypes.

Revue neurologique - 1 May 2024

Delforge V, Tard C, Davion J-B, Dujardin K, Wissocq A, Dhaenens C-M, Mutez E, Huin V

Abstract excerpt

Biallelic intronic expansions (AAGGG)exp in intron 2 of the RFC1 gene have been shown to be a common cause of late-onset ataxia. Since their first description, the phenotypes, neurological damage, and pathogenic variants associated with the RFC1 gene have been frequently updated. Here, we review the various motifs, genetic variants, and phenotypes associated with the RFC1 gene. We searched PubMed for scientific...

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PMID: 38627134
DOI: 10.1016/j.neurol.2024.03.006

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