FAMILIAL DEMENTIA DUE TO ADULT POLYGLUCOSAN BODY DISEASE

Background: Adult polyglucosan body disease (APBD) is a rare disorder, presenting with varying combinations and severity of upper and lower motor neuron dysfunction, sensory deficits, dementia, and urinary inco ntinence. Onset is in the 40s or 50s. The diagnosis is made by finding polyglucosan bodies (PB) in histologic sections of brain or spinal co rd, peripheral nerve, or dermal sweat glands. Although 2 pairs of the 22 previously reported cases were siblings, the familial nature of the disease has not been emphasized. Methods: We report 2 adult siblings, a male and a female, each of whom had the clinical diagnosis of vascu lar dementia. Both were confirmed at autopsy to have A PBD. We charact erized the lesions in autopsy tissues using a battery of histological shins, lectin histochemistry, and electron microscopy. Results: Innume rable PB were distributed throughout brain, heart, skeletal muscle, li ver, and dermal sweat glands. PB were highlighted by periodic acid Sch iff stain and concanavalin A lectin. Ultrastructurally, PB were compos ed of aggregates of filaments within axons and astrocytic processes, a nd lying free in the neuropil, but not within neuronal perikarya. Conc lusions: It is important to consider APBD in cases of familial dementi a of unknown etiology. Ante-mortem biopsy of axillary skin may be diag nostic.