RT Journal Article
SR Electronic
T1 Mitochondrial DNA rearrangements in young onset parkinsonism: two case reports
JF Journal of Neurology, Neurosurgery & Psychiatry
JO J Neurol Neurosurg Psychiatry
FD BMJ Publishing Group Ltd
SP 685
OP 687
DO 10.1136/jnnp.71.5.685
VO 71
IS 5
A1 G Siciliano
A1 M Mancuso
A1 R Ceravolo
A1 V Lombardi
A1 A Iudice
A1 U Bonuccelli
YR 2001
UL http://jnnp.bmj.com/content/71/5/685.abstract
AB 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.