Clinical and molecular studies in a patient with atypical leigh syndrome

Carlo Casali, Filippo M. Santorelli, Bruno Petrucci, Alessandro Malandrini, Marcello Villanova, Daniela Fortini, Maria Damiano, GianCarlo Guazzi, Cristoforo Morocutti

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Clinical and molecular studies in a patient with atypical Leigh syndrome. A 15-year-old patient presented with sudden bilateral reduction of visual acuity. Within a few months his clinical picture worsened because of generalized fatigue and ataxic gait. Following a fever episode, he experienced repeated tonic-clonic seizures with increasing respiratory difficulties until death. Blood lactate and pyruvate levels were normal. Brain MRI was repeatedly unremarkable while brainstem auditory evoked potentials gave consistently abnormal results. Postmortem examination established a diagnosis of Leigh syndrome. A thorough mtDNA analysis did not show any known pathogenic mutation. However, we found two homoplasmic changes. G15928A and T10463C, in the tRNAThr and in the tRNAArg genes, respectively. Although both have been independently reported with low frequency in normal controls, it is still unclear whether their combination characterize a specific pathogenic genetic background.

Original languageEnglish
JournalNuova Rivista di Neurologia
Issue number6
Publication statusPublished - Nov 1998


  • Leigh syndrome
  • Mitochondrial encephalomyopathy
  • mtDNA

ASJC Scopus subject areas

  • Clinical Neurology

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