polyglucosan body disease—adult
A late-onset, slowly progressive inherited condition (OMIM:263570) affecting the central and peripheral nervous systems.
Clinical findings Patients typically present after age 40 years with a combination of cognitive impairment, pyramidal tetraparesis, peripheral neuropathy, and neurogenic bladder, variably accompanied by cerebellar dysfunction and extrapyramidal signs.
Pathology The hallmark of disease is a widespread accumulation of round, intracellular polyglucosan bodies throughout the nervous system, confined to neuronal and astrocytic processes.
Molecular pathology Defects of GBE1, which encodes an enzyme responsible for glycogen branching, a metabolic step required for increasing glycogen solubility and reducing intracellular osmotic pressure, cause polyglucosan body disease—adult.
Synonym Polyglucosan body neuropathy—adult