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- Title
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
- 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 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.
- Subjects
PARKINSON'S disease; CEREBELLAR ataxia; NEUROPATHY; PATIENTS; PARKINSONIAN disorders
- Publication
NPJ Parkinson's Disease, 2022, Vol 8, Issue 1, p1
- ISSN
2373-8057
- Publication type
Article
- DOI
10.1038/s41531-021-00275-7