Biallelic RFC1-expansion in a French multicentric sporadic ataxia cohort.
Fiche publication
Date publication
mars 2021
Journal
Journal of neurology
Auteurs
Membres identifiés du Cancéropôle Est :
Pr CHELLY Jamel, Dr LHERMITTE Benoît
Tous les auteurs :
Montaut S, Diedhiou N, Fahrer P, Marelli C, Lhermitte B, Robelin L, Vincent MC, Corti L, Taieb G, Gebus O, Rudolf G, Tarabeux J, Dondaine N, Canuet M, Almeras M, Benkirane M, Larrieu L, Chanson JB, Nadaj-Pakleza A, Echaniz-Laguna A, Cauquil C, Lannes B, Chelly J, Anheim M, Puccio H, Tranchant C
Lien Pubmed
Résumé
Cerebellar ataxia with neuropathy and vestibular areflexia syndrome (CANVAS) is a recessively inherited multisystem ataxia compromising cerebellar, vestibular, and sensory nerves, which has been associated to a pathogenic AAGGG(n) biallelic expansion repeat in the RFC1 gene. Our objective was to assess its prevalence in a French cohort of patients with idiopathic sporadic late-onset ataxia (ILOA), idiopathic early-onset ataxia (IEOA), or Multiple System Atrophy of Cerebellar type (MSA-C).
Mots clés
CANVAS, Gait disorders/ataxia, Multiple system atrophy, Peripheral neuropathy, RFC1
Référence
J Neurol. 2021 Mar 5;: