A1 Refereed original research article in a scientific journal
Biallelic expansion in RFC1 as a rare cause of Parkinson's disease
Authors: Kytövuori Laura, Sipilä Jussi, Doi Hiroshi, Hurme-Niiranen Anri, Siitonen Ari, Koshimizu Eriko, Miyatake Satoko, Matsumoto Naomichi, Tanaka Fumiaki, Majamaa Kari
Publisher: NATURE PORTFOLIO
Publication year: 2022
Journal: NPJ Parkinson's disease
Journal name in source: NPJ PARKINSONS DISEASE
Journal acronym: NPJ PARKINSONS DIS
Article number: 6
Volume: 8
Number of pages: 4
DOI: https://doi.org/10.1038/s41531-021-00275-7
Web address : https://www.nature.com/articles/s41531-021-00275-7
Self-archived copy’s web address: https://research.utu.fi/converis/portal/detail/Publication/174780807
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 with medicated parkinsonism for RFC1 and found biallelic (AAGGG)(exp) in three non-consanguineous patients with clinically confirmed Parkinson's disease without ataxia suggesting that RFC1-related disorders include Parkinson's disease as well.
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