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Profiling complex repeat expansions in RFC1 in Parkinson’s disease

24 May 2024

Abstract excerpt

A biallelic (AAGGG) expansion in the poly(A) tail of an AluSx3 transposable element within the gene RFC1 is a frequent cause of cerebellar ataxia, neuropathy, vestibular areflexia syndrome (CANVAS), and more recently, has been reported as a rare cause of Parkinson's disease (PD) in the Finnish population. Here, we investigate the prevalence of RFC1 (AAGGG) expansions in PD patients of non-Finnish European...

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PMID: 38789445
DOI: 10.1038/s41531-024-00723-0

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