Neurological Sciences

, Volume 36, Issue 2, pp 341–343 | Cite as

PARK2 presenting as a disabling peripheral axonal neuropathy

  • Joana DomingosEmail author
  • Teresa Coelho
  • Ricardo Taipa
  • Jorge P. Basto
  • Manuel Melo-Pires
  • Marina J. Magalhães
Letter to the Editor

Dear Sirs,

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...


Nerve Conduction Study Myelinated Fiber Nerve Biopsy Axonal Neuropathy Motor Unit Action Potential 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.



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.

Supplementary material

Video: illustrates the steppage gait due to the peripheral neuropathy (the patient is on anti-parkinsonian therapy) (WMV 4547 kb)


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Copyright information

© Springer-Verlag Italia 2014

Authors and Affiliations

  • Joana Domingos
    • 1
    Email author
  • Teresa Coelho
    • 2
  • Ricardo Taipa
    • 3
  • Jorge P. Basto
    • 4
  • Manuel Melo-Pires
    • 3
  • Marina J. Magalhães
    • 1
  1. 1.Department of NeurologyCentro Hospitalar do Porto, Hospital de Santo AntónioPortoPortugal
  2. 2.Department of NeurophysiologyCentro Hospitalar do Porto, Hospital de Santo AntónioPortoPortugal
  3. 3.Neuropathology UnitCentro Hospitalar do Porto, Hospital de Santo AntónioPortoPortugal
  4. 4.Instituto de Biologia Molecular e CelularPortoPortugal

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