J Neurol Neurosurg Psychiatry 71:685-687 doi:10.1136/jnnp.71.5.685
  • Short report

Mitochondrial DNA rearrangements in young onset parkinsonism: two case reports

  1. G Siciliano,
  2. M Mancuso,
  3. R Ceravolo,
  4. V Lombardi,
  5. A Iudice,
  6. U Bonuccelli
  1. Department of Neurosciences, Neurology Clinic, University of Pisa, Via Roma 67, 56126 Pisa, Italy
  1. Dr G Sicilianogsicilia{at}
  • Received 14 November 2000
  • Revised 6 June 2001
  • Accepted 27 July 2001


Parkinson's disease is a nosological entity of unknown origin for which, in some cases, a possible pathogenetic role for mitochondrial dysfunction has been postulated. Two young onset parkinsonian patients with mitochondrial DNA (mtDNA) deletions in skeletal muscle are reported on. Patient 1 also presented with increased blood creatine kinase and lactate concentrations and a family history which included a wide range of phenotypes affecting multiple systems. Patient 2 presented with multiple symmetric lipomatosis. Histopathological investigation showed ragged red fibres and COX negative fibres in muscle biopsies from both patients. The data support the hypothesis that mitochondrial DNA mutations may occur in some cases of parkinsonism, suggesting that a diagnosis of a mitochondrial disorder should be considered in the presence of consistent family history and clinical symptoms.


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