polyglucosan body disease—adult

Home » Classic Medicine » Neurology » polyglucosan body disease—adult
polyglucosan body disease—adult2016-11-27T19:12:26+00:00

polyglucosan body disease—adult

polyglucosan body disease—adult image from New Medical Terms

polyglucosan body disease


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

References http://www.uniprot.org/uniprot/Q04446



Leave A Comment

This site uses Akismet to reduce spam. Learn how your comment data is processed.