Polyglucosan body disease.

Adult polyglucosan disease has been described in 15 cases. All had signs of peripheral neuropathy, upper motor neuron signs, and 12 of the 15 had sphincter problems. Dementia was prominent in 8 of 15 cases. We reported 2 cases that contained these clinical features. Electrophysiological studies showed axonal neuropathy. Somatosensory evoked potentials on the second patient were abnormal. Sural nerve biopsy showed clusters of polyglucosan bodies. Although the presence of polyglucosan bodies in biopsy is nonspecific, the number as well as the clinical features are necessary to make the diagnosis. Branching enzyme activity in muscle extracts of the muscles were normal. Hence, a specific enzyme abnormality is not yet known.