polyglucosan body disease—adult

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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

METABOLISM, NEUROLOGY

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

http://www.omim.org/entry/263570

 

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