Article
New practical definitions for the diagnosis of autosomal recessive spastic ataxia of Charlevoix-Saguenay.
Annals of neurology - 1 Dec 2015
Pilliod Julie, Moutton Sébastien, Lavie Julie, Maurat Elise, Hubert Christophe, Bellance Nadège, Anheim Mathieu, Forlani Sylvie, Mochel Fanny, N'Guyen Karine, Thauvin-Robinet Christel, Verny Christophe, Milea Dan, Lesca Gaëtan, Koenig Michel, Rodriguez Diana, Houcinat Nada, Van-Gils Julien, Durand Christelle M, Guichet Agnès, Barth Magalie, Bonneau Dominique, Convers Philippe, Maillart Elisabeth, Guyant-Marechal Lucie, Hannequin Didier, Fromager Guillaume, Afenjar Alexandra, Chantot-Bastaraud Sandra, Valence Stéphanie, Charles Perrine, Berquin Patrick, Rooryck Caroline, Bouron Julie, Brice Alexis, Lacombe Didier, Rossignol Rodrigue, Stevanin Giovanni, Benard Giovanni, Burglen Lydie, Durr Alexandra, Goizet Cyril, Coupry Isabelle
Abstract excerpt
OBJECTIVE: Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is caused by mutations in the SACS gene. SACS encodes sacsin, a protein whose function remains unknown, despite the description of numerous protein domains and the recent focus on its potential role in the regulation of mitochondrial physiology. This study aimed to identify new mutations in a large population of ataxic patients and to...
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