SQSTM1 mutations in French patients with frontotemporal dementia or frontotemporal dementia with amyotrophic lateral sclerosis

I Le Ber, A Camuzat, R Guerreiro… - JAMA …, 2013 - jamanetwork.com
Importance Mutations in theSQSTM1gene, coding for p62, are a cause of Paget disease of
bone and amyotrophic lateral sclerosis (ALS). Recently, SQSTM1mutations were confirmed
in ALS, and mutations were also identified in 3 patients with frontotemporal dementia (FTD),
suggesting a role forSQSTM1in FTD. Objective To evaluate the exact contribution
ofSQSTM1to FTD and FTD with ALS (FTD-ALS) in an independent cohort of patients. Design
ASQSTM1mutation was first identified in a multiplex family with FTD by use of whole-exome …