adult polyglucosan body disease
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Pathology
- late-onset, slowly progressive disorder affecting the CNS & peripheral nervous system
- cerebellar dysfunction & extrapyramidal signs
- widespread accumulation of round, intracellular polyglucosan bodies throughout the nervous system, which are confined to neuronal & astrocytic processes
Genetics
- associated with defects in GBE1 gene
Clinical manifestations
- generally present after age 40 years
- variable cognitive impairment pyramidal tetraparesis peripheral neuropathy neurogenic bladder