Most persons that have been diagnosed with APBD are of Ashkenazi Jewish ethnicity and are homozygous for the GBE1 c.986A > C, p.Y329S mutation or have compound heterozygosity for that allele and a GBE1 c.2053-3358_2053-3350delinsTGTTTTTTACATGACAGGT intronic mutation (4). This evidence concerns the gene GBE1 and adult polyglucosan body disease.