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A 50 year old patient is described who presented with
parkinsonism, frontal dementia, peripheral neuropathy, neurogenic
bladder, and upper motor neuron signs. No improvement in objective
measurements of extrapyramidal dysfunction were seen with an
incremental apomorphine test or more prolonged oral dopamine challenge.
Neurophysiology disclosed changes compatible with a diffuse axonal
neuropathy and pathological examination of a length of sural nerve
taken at biopsy showed multiple polyglucosan bodies characteristic of adult polyglucosan body disease (APGBD). This case underlines the
diverse clinical presentation of this rare neurological disease and the
importance of recognising the unusual association of clinical features
in making the diagnosis. APGBD should be included in the differential
diagnosis of parkinsonism unresponsive to dopaminergic therapy.