Article
SQSTM1 mutations in French patients with frontotemporal dementia or frontotemporal dementia with amyotrophic lateral sclerosis.
JAMA neurology - 1 Nov 2013
Le Ber Isabelle, Camuzat Agnès, Guerreiro Rita, Bouya-Ahmed Kawtar, Bras Jose, Nicolas Gael, Gabelle Audrey, Didic Mira, De Septenville Anne, Millecamps Stéphanie, Lenglet Timothée, Latouche Morwena, Kabashi Edor, Campion Dominique, Hannequin Didier, Hardy John, Brice Alexis
Abstract excerpt
IMPORTANCE: Mutations in the SQSTM1 gene, coding for p62, are a cause of Paget disease of bone and amyotrophic lateral sclerosis (ALS). Recently, SQSTM1 mutations were confirmed in ALS, and mutations were also identified in 3 patients with frontotemporal dementia (FTD), suggesting a role for SQSTM1 in FTD. OBJECTIVE: To evaluate the exact contribution of SQSTM1 to FTD and FTD with ALS (FTD-ALS) in an independent...
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