Clinical spectrum of the pentanucleotide repeat expansion in the RFC1 gene in ataxia syndromes
Maria Gisatulin, Valerija Dobricic, Christine Zuehlke, Yorck Hellenbroich, Vera Tadic, Alexander Muenchau, Klaus Isenhardt, Katrin Buerk, Melanie Bahlo, Paul J Lockhart, Katja Lohmann, Christoph Helmchen, Norbert Brueggemann
NEUROLOGY | LIPPINCOTT WILLIAMS & WILKINS | Published : 2020
OBJECTIVE: To determine the clinical significance of an intronic biallelic pentanucleotide repeat expansion in the gene encoding replication factor C subunit 1 (RFC1) in patients with late-onset cerebellar ataxia, neuropathy, and vestibular areflexia syndrome (CANVAS), in patients with other ataxias, and in healthy controls by comprehensive genetic analyses. METHODS: In this case-control study, we included 457 individuals comprising 26 patients with complete or incomplete CANVAS, 70 patients with late-onset cerebellar ataxia, 208 healthy controls, and 153 individuals from 39 multigenerational families without ataxia to determine repeat stability. All 96 patients were screened for the repeat ..View full abstract
Awarded by Australian National Health and Medical Research Council (NHMRC) Senior Research Fellowship
This study was funded by the Foundation of the University Medical Center Schleswig Holstein "Gutes Tun!" (to A.M.) and the Damp Foundation (to K.L. and A.M.). M.G. was supported by a scholarship from the University of Lubeck. P.J.L. is supported by the Vincent Chiodo Foundation. M.B. was supported by an Australian National Health and Medical Research Council (NHMRC) Senior Research Fellowship (1102971). Additional funding was provided by the Independent Research Institute Infrastructure Support Scheme and the Victorian State Government Operational Infrastructure Program.