Biallelic RFC1-expansion in a French multicentric sporadic ataxia cohort.

Date publication

mars 2021

Journal

Journal of neurology

Auteurs

Membres identifiés du Cancéropôle Est :
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

https://www.ncbi.nlm.nih.gov/pubmed/33666721

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;: