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Leigh syndrome caused by mutations in the flavoprotein (Fp) subunit of succinate dehydrogenase (SDHA)
  1. R Horváth1,
  2. A Abicht2,
  3. E Holinski-Feder4,
  4. A Laner4,
  5. K Gempel1,
  6. H Prokisch5,
  7. H Lochmüller2,
  8. T Klopstock3,
  9. M Jaksch1
  1. 1Metabolic Disease Centre Munich-Schwabing, Institutes of Clinical Chemistry, Molecular Diagnostics and Mitochondrial Genetics, Academic Hospital Schwabing, Munich, Germany
  2. 2Friedrich-Baur-Institute and Department of Neurology, Ludwig-Maximilians University, Munich
  3. 3Department of Neurology, Ludwig-Maximilians University
  4. 4Medical Genetic Centre, Munich
  5. 5GSF National Research Centre, Institute of Human Genetics, Munich
  1. Correspondence to:
 Dr Rita Horváth
 Metabolic Disease Centre Munich-Schwabing, Institutes of Clinical Chemistry, Molecular Diagnostics and Mitochondrial Genetics; Academic Hospital Schwabing, Kölner Platz 1, 80804 Munich, Germany; Rita.Horvath{at}lrz.uni-muenchen.de

Abstract

Detailed clinical, neuroradiological, histological, biochemical, and genetic investigations were undertaken in a child suffering from Leigh syndrome. The clinical symptoms started at age five months and led to a severe progressive neurodegenerative disorder causing epilepsy, psychomotor retardation, and tetraspasticity. Biochemical measurement of skeletal muscle showed a severe decrease in mitochondrial complex II. Sequencing of SDHA revealed compound heterozygosity for a nonsense mutation in exon 4 (W119X) and a missense mutation in exon 3 (A83V), both absent in normal controls. In six additional patients—five with Leigh or Leigh-like syndrome and one with neuropathy and ataxia associated with isolated deficiency of complex II—mutations in SDHA were not detected, indicating genetic heterogeneity.

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Footnotes

  • Competing interests: none declared

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