Glibert, "Adult polyglucosan body disease masquerading as "ALS with dementia of the Alzheimer type": An exceptional phenotype in a rare pathology," Alzheimer Disease and Associated Disorders, vol.
Shanske et al., "Glycogen branching enzyme deficiency in adult polyglucosan body disease," Annals of Neurology, vol.
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.
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.