Article
Screening of OPTN in French familial amyotrophic lateral sclerosis.
Neurobiology of aging - 1 Mar 2011
Millecamps Stéphanie, Boillée Séverine, Chabrol Elodie, Camu William, Cazeneuve Cécile, Salachas François, Pradat Pierre-François, Danel-Brunaud Véronique, Vandenberghe Nadia, Corcia Philippe, Le Forestier Nadine, Lacomblez Lucette, Bruneteau Gaëlle, Seilhean Danielle, Brice Alexis, Feingold Josué, Meininger Vincent, LeGuern Eric
Abstract excerpt
Mutations in OPTN gene encoding optineurin have recently been identified at the homozygote and heterozygote state in Japanese families with slowly progressive amyotrophic lateral sclerosis (ALS). OPTN had previously been involved in adult primary open angle glaucoma (POAG). We sequenced the coding exons of OPTN in 126 French patients with familial ALS (FALS). We identified, at the heterozygote state, the nonsense...
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