PARK2 presenting as a disabling peripheral axonal neuropathy
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Mutations in parkin gene (PARK2) have been associated with autosomal recessive early-onset Parkinson’s disease (PD), characterized by early onset and marked response to levodopa but with rapid onset of dyskinesia.
A 49-year-old male patient, with non-consanguineous parents, presented at the age of 37 with progressive gait difficulties. He complained that the tip of his right foot started to beat on the floor when he walked for an extended period. When first observed at the age of 38, the neurological examination, blood analysis and electromyography were all normal. He has six siblings, all healthy. There is no family history of neuropathy or parkinsonism.
At the age of 40, his walking difficulties increased, with sensation of foot drop after a few meters of walking. Neurological examination remained normal. Electroneuromyography showed a chronic axonal sensory and motor polyneuropathy. The sensory nerve action potential amplitude was reduced in the ulnaris (13 µV), peroneus...
KeywordsNerve Conduction Study Myelinated Fiber Nerve Biopsy Axonal Neuropathy Motor Unit Action Potential
The authors would like to acknowledge the patient for his kind cooperation. This research received no specific grant from any funding agency.
Conflict of interest
The authors have no competing interests.
Video: illustrates the steppage gait due to the peripheral neuropathy (the patient is on anti-parkinsonian therapy) (WMV 4547 kb)