Article
Association of biallelic RFC1 expansion with early-onset Parkinson's disease.
European journal of neurology - 1 May 2023
Ylikotila Pauli, Sipilä Jussi, Alapirtti Tiina, Ahmasalo Riitta, Koshimizu Eriko, Miyatake Satoko, Hurme-Niiranen Anri, Siitonen Ari, Doi Hiroshi, Tanaka Fumiaki, Matsumoto Naomichi, Majamaa Kari, Kytövuori Laura
Abstract excerpt
BACKGROUND AND PURPOSE: The biallelic repeat expansion (AAGGG)exp in the replication factor C subunit 1 gene (RFC1) is a frequent cause of cerebellar ataxia, neuropathy and vestibular areflexia syndrome (CANVAS) as well as late-onset ataxia. The clinical spectrum of RFC1 disease has expanded since the first identification of biallelic (AAGGG)exp and includes now various nonclassical phenotypes. Biallelic...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.