Leigh syndrome caused by mutations in the flavoprotein (Fp) subunit of succinate dehydrogenase (SDHA). Issue 1 (16th December 2005)

• Record Type: Journal Article
• Authors: Horváth, R; Abicht, A; Holinski-Feder, E; Laner, A; Gempel, K; Prokisch, H; Lochmüller, H; Klopstock, T; Jaksch, M
• Is Part Of: Journal of neurology, neurosurgery and psychiatry. Volume 77:Issue 1(2006)
• Page Start: 74
• Page End: 76
• Publication Date: 2005-12-16
• Subjects: DHPLC, denaturing high performance liquid chromatography -- RC, respiratory chain -- SDH, succinate dehydrogenase; Leigh syndrome -- SDHA -- complex II; Neurology -- Periodicals; Nervous system -- Surgery -- Periodicals; Psychiatry -- Periodicals; 616.8
• DOI: 10.1136/jnnp.2005.067041
• Languages: English
• ISSNs: 0022-3050

Abstract

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.