A1 Vertaisarvioitu alkuperäisartikkeli tieteellisessä lehdessä
Biallelic expansion in RFC1 as a rare cause of Parkinson's disease
Tekijät: Kytövuori Laura, Sipilä Jussi, Doi Hiroshi, Hurme-Niiranen Anri, Siitonen Ari, Koshimizu Eriko, Miyatake Satoko, Matsumoto Naomichi, Tanaka Fumiaki, Majamaa Kari
Kustantaja: NATURE PORTFOLIO
Julkaisuvuosi: 2022
Journal: NPJ Parkinson's disease
Tietokannassa oleva lehden nimi: NPJ PARKINSONS DISEASE
Lehden akronyymi: NPJ PARKINSONS DIS
Artikkelin numero: 6
Vuosikerta: 8
Sivujen määrä: 4
DOI: https://doi.org/10.1038/s41531-021-00275-7
Verkko-osoite: https://www.nature.com/articles/s41531-021-00275-7
Rinnakkaistallenteen osoite: 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.
Ladattava julkaisu This is an electronic reprint of the original article. |  |
