Biallelic expansion in RFC1 as a rare cause of Parkinson's disease
Hurme-Niiranen Anri; Tanaka Fumiaki; Siitonen Ari; Matsumoto Naomichi; Doi Hiroshi; Koshimizu Eriko; Sipilä Jussi; Majamaa Kari; Kytövuori Laura; Miyatake Satoko
Biallelic expansion in RFC1 as a rare cause of Parkinson's disease
Hurme-Niiranen Anri
Tanaka Fumiaki
Siitonen Ari
Matsumoto Naomichi
Doi Hiroshi
Koshimizu Eriko
Sipilä Jussi
Majamaa Kari
Kytövuori Laura
Miyatake Satoko
NATURE PORTFOLIO
Julkaisun pysyvä osoite on:
https://urn.fi/URN:NBN:fi-fe2022081154956
https://urn.fi/URN:NBN:fi-fe2022081154956
Tiivistelmä
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.
Kokoelmat
- Rinnakkaistallenteet [19206]