Biallelic expansion in RFC1 as a rare cause of Parkinson's disease.
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ABSTRACT:
SUBMITTER: Kytovuori L
PROVIDER: S-EPMC8748909 | biostudies-literature | 2022 Jan
REPOSITORIES: biostudies-literature
Publications
Biallelic expansion in RFC1 as a rare cause of Parkinson's disease.
Kytövuori Laura L Sipilä Jussi J Doi Hiroshi H Hurme-Niiranen Anri A Siitonen Ari A Koshimizu Eriko E Miyatake Satoko S Matsumoto Naomichi N Tanaka Fumiaki F Majamaa Kari K
NPJ Parkinson's disease 20220110 1
An intronic expansion (AAGGG)<sub>exp</sub> 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)<sub>exp</sub> in three non-consanguineous patients with clinically confirmed Parkinson's disease without ataxia suggesting that RFC1-re ...[more]
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