SQSTM1 and amyotrophic lateral sclerosis: The most frequently observed phenotype in SQSTM1 mutations is Pagetdisease where mutations are found in 25-50% of cases of familial and 5-10% ofsporadic cases of Paget disease.94Cases of sporadic and familial ALS, familial bvFTD and familial FTD-MND withSQSTM1 mutations, have also been identified.95 Mutations have been described infamilies with the bvFTD, Paget disease, and/or ALS phenotypes, but bvFTD and ALShave also been observed in families with no history of Paget disease.93,95