Investigations of tissues from persons with APBD have shown varied polyglucosan accumulation in multiple tissue and cell types, including throughout much of the CNS, peripheral nerves, skeletal muscle, diaphragm, heart, liver, lungs, kidneys, sweat glands and some immune cells (7, 33–37), with well-documented variability of involvement of the same tissues even in persons having identical GBE1 mutant genotypes (23). The gene discussed is GBE1; the disease is adult polyglucosan body disease.