Juvenile parkinsonism, hypogonadism and Leigh-like MRI changes in a patient with m.4296G>A mutation in mitochondrial DNA

Mitochondrion. 2013 Mar;13(2):83-6. doi: 10.1016/j.mito.2013.01.012. Epub 2013 Feb 7.


Leigh syndrome is a mitochondrial disease with considerable clinical and genetic variation. We present a 16-year-old boy with Leigh-like syndrome and broad developmental retardation, parkinsonism and hypogonadism. Sequencing of the entire mitochondrial DNA from blood revealed the m.4296G>A mutation in the MT-TI gene. The mutation was heteroplasmic with a 95% proportion of the mutant genome, while the proportion was 58% in the blood of the patient's clinically healthy mother. Our results suggest that m.4296G>A is pathogenic in humans, and that the phenotype related to this change includes Leigh-like syndrome in adolescence with parkinsonism and hypogonadism, in addition to the previously reported early infantile Leigh syndrome.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Brain / diagnostic imaging
  • Brain / pathology
  • DNA, Mitochondrial / chemistry
  • DNA, Mitochondrial / genetics*
  • Eunuchism / diagnosis
  • Eunuchism / genetics*
  • Genome, Mitochondrial
  • Humans
  • Leigh Disease / diagnosis
  • Leigh Disease / genetics*
  • Magnetic Resonance Imaging
  • Male
  • Parkinsonian Disorders / diagnosis
  • Parkinsonian Disorders / genetics*
  • Point Mutation*
  • RNA, Transfer, Ile / genetics*
  • Radiography
  • Sequence Analysis, DNA


  • DNA, Mitochondrial
  • RNA, Transfer, Ile