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Date publication
avril 2025
Journal
Neurology. Genetics
Auteurs
Membres identifiés du Cancéropôle Est :
Dr BONNET Céline
Tous les auteurs :
Chen S, Ashton C, Sakalla R, Clement G, Planel S, Bonnet C, Lamont PJ, Kulanthaivelu K, Nalini A, Houlden H, Duquette A, Dicaire MJ, Iruzubieta Agudo P, Ruiz-Martinez J, Marco De Lucas E, Sutil Berjon R, Infante Ceberio J, Indelicato E, Boesch SM, Synofzik M, Bender B, Danzi MC, Zuchner S, Pellerin D, Brais B, Renaud M, La Piana R
Lien Pubmed
Résumé
GAA- ataxia (SCA27B) is a recently reported late-onset ataxia caused by a GAA repeat expansion in intron 1 of the gene. After the clinical observation of superior cerebellar peduncle (SCP) involvement in some affected patients, we sought to verify the prevalence of this finding in our cohort and 4 additional independent cohorts of patients with SCA27B.
Référence
Neurol Genet. 2025 04;11(2):e200253
