Profiling complex repeat expansions in RFC1 in Parkinson’s disease

Profiling complex repeat expansions in RFC1 in Parkinson’s disease

Abstract 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 Finn...

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Main Authors: Pilar Alvarez Jerez, Kensuke Daida, Abigail Miano-Burkhardt, Hirotaka Iwaki, Laksh Malik, Guillaume Cogan, Mary B. Makarious, Roisin Sullivan, Jana Vandrovcova, Jinhui Ding, J. Raphael Gibbs, Androo Markham, Mike A. Nalls, Rupesh K. Kesharwani, Fritz J. Sedlazeck, Bradford Casey, John Hardy, Henry Houlden, Cornelis Blauwendraat, Andrew B. Singleton, Kimberley J. Billingsley
Format: Article
Language:English
Published: Nature Portfolio 2024-05-01
Series:npj Parkinson's Disease
Online Access:https://doi.org/10.1038/s41531-024-00723-0

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https://doi.org/10.1038/s41531-024-00723-0

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