DNA end labelling (TUNEL) in a 3 year old girl with Leigh syndrome and prevalent cortical involvement

P. Formichi, A. Malandrini, C. Battisti, F. M. Santorelli, S. Gambelli, S. A. Tripodi, G. Berti, C. Salvadori, A. Tessa, A. Federico

Research output: Contribution to journalArticlepeer-review


Neuropathological study of a 3 1/2 year old girl with familial Leigh syndrome who also harboured a rare ATPase gene mutation disclosed extensive and unusual lesions in the cerebral cortex, despite a typical histological pattern. Early lesions in the periacqueductal grey matter of the brainstem, characterised by capillary congestion and initial regressive neuronal changes, were also observed, along with TUNEL reactive neuronal cells showing morphological signs typical of apoptosis in cortical areas with neuronal cell loss. The finding of lesions in atypical brain areas and for the first time, very early regressive neuronal phenomena, suggest that early changes in crucial brain areas may have been a cause of death. The abundance of TUNEL positive nuclei in cortical areas in the present case suggests that the apoptosis may be involved in the mechanism of neuronal death in Leigh syndrome.

Original languageEnglish
Pages (from-to)930-932
Number of pages3
JournalJournal of Neurology, Neurosurgery and Psychiatry
Issue number6
Publication statusPublished - Jun 2004

ASJC Scopus subject areas

  • Neuropsychology and Physiological Psychology
  • Neuroscience(all)
  • Psychiatry and Mental health


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