Leigh syndrome: One disorder, more than 75 monogenic causes
Lake N, Compton A, Rahman S, Thorburn D. Leigh syndrome: One disorder, more than 75 monogenic causes. Annals Of Neurology 2015, 79: 190-203. PMID: 26506407, DOI: 10.1002/ana.24551.Peer-Reviewed Original ResearchLeigh Syndrome
Lake N, Bird M, Isohanni P, Paetau A. Leigh Syndrome. Journal Of Neuropathology & Experimental Neurology 2015, 74: 482-492. PMID: 25978847, DOI: 10.1097/nen.0000000000000195.Peer-Reviewed Original ResearchConceptsLeigh syndromeAnimal modelsHypoxic-ischemic encephalopathyBilateral symmetrical lesionsCommon pediatric presentationMolecular mechanismsSevere ATP depletionNeuronal preservationPediatric presentationProgressive encephalopathySymmetrical lesionsBasal gangliaCapillary proliferationCerebrospinal fluidUnique pathologyPathogenic mechanismsLesion developmentPatient samplesReactive oxygen speciesGliosisHyperlacticacidemiaEncephalopathyATP depletionSyndromePathology