Adult polyglucosan body disease

Adult polyglucosan body disease is a late-onset, slowly progressive central and peripheral nervous system disorder. Clinical manifestations include a variable combination of myelopathy, peripheral neuropathy, neurogenic bladder and cognitive impairment. The pathological hallmark is accumulation of round intracellular polyglucosan bodies, composed mostly of amylopectin-like polysaccharide, in neuronal and astrocytic processes throughout the nervous system. The inclusions aggregate due to deficiency of glycogen branching enzyme related to mutations in the GBE1 gene, often in patients of Ashkenazi Jewish origin.