Biallelic expansion in RFC1 as a rare cause of Parkinson's disease
: Kytövuori Laura, Sipilä Jussi, Doi Hiroshi, Hurme-Niiranen Anri, Siitonen Ari, Koshimizu Eriko, Miyatake Satoko, Matsumoto Naomichi, Tanaka Fumiaki, Majamaa Kari
Publisher: NATURE PORTFOLIO
: 2022
: NPJ Parkinson's disease
: NPJ PARKINSONS DISEASE
: NPJ PARKINSONS DIS
: 6
: 8
: 4
DOI: https://doi.org/10.1038/s41531-021-00275-7
: https://www.nature.com/articles/s41531-021-00275-7
: 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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