Biallelic expansion in RFC1 as a rare cause of Parkinson’s disease
Laura Kytövuori, Jussi Sipilä, Hiroshi Doi, Anri Hurme‐Niiranen, Ari Siitonen, Eriko Koshimizu, Satoko Miyatake, Naomichi Matsumoto, Fumiaki Tanaka, Kari Majamaa
Abstract
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.
Topics & Concepts
Parkinson's diseaseMedicineDiseaseNeurologyNeuroscienceInternal medicineBiologyPsychiatryGenomics and Chromatin DynamicsParkinson's Disease Mechanisms and TreatmentsGenetics and Neurodevelopmental Disorders