Adult polyglucosan body disease is a chronically progressive neurological disease first described in 1980.
Adult polyglucosan body disease is a clinicopathologic entity typically presenting in the fifth to seventh decades with peripheral neuropathy, upper motor neuron signs, neurogenic bladder, and dementia.
Polyglucosan bodies are the pathologic hallmark of this disease.
Busard and coworkers investigated the value of an axillary skin biopsy for the diagnosis of adult polyglucosan body disease in a 65-year-old woman in whom the diagnosis had been established by sural nerve biopsy.
Polyglucosan bodies in endothelial cells of the papillary dermis were not seen in the case reported by Busard and colleagues, but they have been described around endoneurial blood vessels and in perivascular macrophages in sural nerve biopsies.
The pathogenesis of the adult polyglucosan body disease appears to be heterogeneous.
In summary, adult polyglucosan body disease should be suspected in patients with a late-onset progressive disorder of the peripheral and central nervous system, especially when upper motor neuron signs, dementia, or bladder impairment is present.
A distinct form of adult polyglucosan body disease with massive involvement of central and peripheral neuronal processes and astrocytes: a report of four cases and a review of the occurrence of polyglucosan bodies in other conditions such as Lafora's disease and normal aging.
Adult polyglucosan body disease associated with an extrapyramidal syndrome.
Adult polyglucosan body disease: the diagnostic value of axilla skin biopsy.