Alpha-synuclein pathology and Parkinsonism associated with POLG1 mutations and multiple mitochondrial DNA deletions

Neuropathol Appl Neurobiol. 2009 Feb;35(1):120-4. doi: 10.1111/j.1365-2990.2008.00981.x.
No abstract available

Publication types

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

MeSH terms

  • Blotting, Southern
  • Brain / metabolism
  • Brain / pathology
  • DNA Mutational Analysis
  • DNA Polymerase gamma
  • DNA, Mitochondrial / genetics*
  • DNA-Directed DNA Polymerase / genetics*
  • Electron Transport Complex IV / metabolism
  • Humans
  • Immunohistochemistry
  • Lewy Bodies / pathology
  • Male
  • Middle Aged
  • Muscle, Skeletal / metabolism
  • Muscle, Skeletal / pathology
  • Mutation
  • Myelin Sheath / pathology
  • Parkinsonian Disorders / genetics*
  • Parkinsonian Disorders / pathology*
  • Polymerase Chain Reaction
  • Spinal Cord / pathology
  • Voltage-Dependent Anion Channels / metabolism
  • alpha-Synuclein / metabolism*

Substances

  • DNA, Mitochondrial
  • Voltage-Dependent Anion Channels
  • alpha-Synuclein
  • Electron Transport Complex IV
  • DNA Polymerase gamma
  • DNA-Directed DNA Polymerase
  • POLG protein, human