Biallelic expansion in RFC1 as a rare cause of Parkinson’s disease

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 medi...

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Detalles Bibliográficos
Autores principales: Kytövuori, Laura, Sipilä, Jussi, Doi, Hiroshi, Hurme-Niiranen, Anri, Siitonen, Ari, Koshimizu, Eriko, Miyatake, Satoko, Matsumoto, Naomichi, Tanaka, Fumiaki, Majamaa, Kari
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2022
Materias:
Brief Communication
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8748909/
https://www.ncbi.nlm.nih.gov/pubmed/35013364
http://dx.doi.org/10.1038/s41531-021-00275-7
Descripción
Sumario: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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