SQSTM1 mutations in familial and sporadic amyotrophic lateral sclerosis
F Fecto, J Yan, SP Vemula, E Liu, Y Yang… - Archives of …, 2011 - jamanetwork.com
Background The SQSTM1 gene encodes p62, a major pathologic protein involved in
neurodegeneration. Objective To examine whether SQSTM1 mutations contribute to familial
and sporadic amyotrophic lateral sclerosis (ALS). Design Case-control study. Setting
Academic research. Patients A cohort of 546 patients with familial (n= 340) or sporadic (n=
206) ALS seen at a major academic referral center were screened for SQSTM1 mutations.
Main Outcome Measures We evaluated the distribution of missense, deletion, silent, and …
neurodegeneration. Objective To examine whether SQSTM1 mutations contribute to familial
and sporadic amyotrophic lateral sclerosis (ALS). Design Case-control study. Setting
Academic research. Patients A cohort of 546 patients with familial (n= 340) or sporadic (n=
206) ALS seen at a major academic referral center were screened for SQSTM1 mutations.
Main Outcome Measures We evaluated the distribution of missense, deletion, silent, and …