Biallelic expansion in RFC1 as a rare cause of Parkinson’s disease

Biallelic expansion in RFC1 as a rare cause of Parkinson’s disease

Abstract An intronic expansion (AAGGG)exp in the RFC1 gene has recently been shown to cause recessively inherited cerebellar ataxia, neuropathy, and vestibular areflexia syndrome and, furthermore, a few patients with ataxia and parkinsonism have been reported. We investigated 569 Finnish patients wi...

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Bibliographic Details
Main Authors: Laura Kytövuori, Jussi Sipilä, Hiroshi Doi, Anri Hurme-Niiranen, Ari Siitonen, Eriko Koshimizu, Satoko Miyatake, Naomichi Matsumoto, Fumiaki Tanaka, Kari Majamaa
Format: Article
Language:English
Published: Nature Portfolio 2022-01-01
Series:npj Parkinson's Disease
Online Access:https://doi.org/10.1038/s41531-021-00275-7

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https://doi.org/10.1038/s41531-021-00275-7

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