SIGMAR1 and amyotrophic lateral sclerosis type 2, juvenile: Homozygous mutations in the sigma nonopioid intracellular receptor-1 gene (SIGMAR1) have been reported as a cause of dHMN and juvenile ALS.7,8 Here we describe a patient with a Silver-like syndrome carrying a homozygous mutation in SIGMAR1 and review the phenotypic spectrum of mutations in this gene.