Respiratory chain and mitochondrial deoxyribonucleic acid in blood cells from patients with focal and generalized dystonia

Mov Disord. 1994 Nov;9(6):597-600. doi: 10.1002/mds.870090603.


An increasing number of neurodegenerative diseases seem to be associated with or even due to disturbances of cerebral energy metabolism. One generally accepted example is complex I deficiency in substantia nigra from patients with Parkinson's disease. Reports on a complex I defect in platelets from patients with dystonia led us to check for disturbances of the respiratory chain or of the mitochondrial genome in isolated mitochondria from patients with focal or generalized dystonia. We could not confirm the idea of mitochondrial disturbance in platelets from patients with dystonia because we did not find abnormal enzyme activities or any deletions of the mitochondrial genome. Thus, we do not think that blood cells such as platelets can serve as markers for neurodegenerative disorders such as dystonia.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Aged
  • Blood Platelets / metabolism*
  • Blotting, Southern
  • Chromosome Deletion
  • DNA, Mitochondrial / blood*
  • DNA, Mitochondrial / genetics
  • Dystonia / genetics
  • Dystonia / physiopathology*
  • Electron Transport / genetics
  • Electron Transport / physiology*
  • Female
  • Humans
  • Male
  • Middle Aged
  • NAD(P)H Dehydrogenase (Quinone) / deficiency
  • Neurologic Examination
  • Torticollis / genetics
  • Torticollis / physiopathology*


  • DNA, Mitochondrial
  • NAD(P)H Dehydrogenase (Quinone)