• J. Neurol. Neurosurg. Psychiatr. · Jan 2006

    Case Reports

    Leigh syndrome caused by mutations in the flavoprotein (Fp) subunit of succinate dehydrogenase (SDHA).

    • R Horváth, A Abicht, E Holinski-Feder, A Laner, K Gempel, H Prokisch, H Lochmüller, T Klopstock, and M Jaksch.
    • Metabolic Disease Centre Munich-Schwabing, Institute of Clinical Chemistry, Academic Hospital Schwabing, Kölner Platz 1, 80804 Munich, Germany. Rita.Horvath@lrz.uni-muenchen.de
    • J. Neurol. Neurosurg. Psychiatr. 2006 Jan 1; 77 (1): 74-6.

    AbstractDetailed 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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