Does parkin play a role in the peripheral nervous system? A family report

Mov Disord. 2004 Aug;19(8):978-81. doi: 10.1002/mds.20113.

Abstract

Two genes were identified for autosomal recessive forms of early onset Parkinson's disease: parkin and DJ-1. We describe 2 siblings with EOPD due to parkin mutations and peripheral neuropathy, which presented as neuropathy with liability to pressure palsies (HNPP) in the index case. RT-PCR experiments revealed that the parkin gene is expressed in sural nerves from both controls and patient with parkin-related disease. Our findings support the view that parkin may play a role in the peripheral nervous system.

Publication types

  • Case Reports
  • Comparative Study
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Aged
  • Biopsy / methods
  • DNA Mutational Analysis / methods
  • Family Health
  • Genes, Recessive
  • Humans
  • Intracellular Signaling Peptides and Proteins
  • Male
  • Mutation / genetics
  • Neurologic Examination
  • Oncogene Proteins / genetics
  • Paralysis / etiology
  • Paralysis / genetics
  • Paralysis / pathology
  • Parkinson Disease / genetics*
  • Peripheral Nervous System Diseases / complications
  • Peripheral Nervous System Diseases / genetics*
  • Peripheral Nervous System Diseases / metabolism
  • Peripheral Nervous System Diseases / pathology
  • Protein Deglycase DJ-1
  • RNA, Messenger / biosynthesis
  • Reverse Transcriptase Polymerase Chain Reaction / methods
  • Sural Nerve / metabolism*
  • Sural Nerve / pathology
  • Ubiquitin-Protein Ligases / genetics*
  • Ubiquitin-Protein Ligases / physiology

Substances

  • Intracellular Signaling Peptides and Proteins
  • Oncogene Proteins
  • RNA, Messenger
  • Ubiquitin-Protein Ligases
  • parkin protein
  • PARK7 protein, human
  • Protein Deglycase DJ-1