title: DNA end labelling (TUNEL) in a 3 year old girl with Leigh syndrome and prevalent cortical involvement.
abstract: 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.
authors.affiliation: Department of Neurological and Behavioural Sciences, Section of Neurological Sciences, University of Siena, Siena, Italy.
authors.forename: P
authors.initials: P
authors.lastname: Formichi
authors.forename: A
authors.initials: A
authors.lastname: Malandrini
authors.forename: C
authors.initials: C
authors.lastname: Battisti
authors.forename: F M
authors.initials: FM
authors.lastname: Santorelli
authors.forename: S
authors.initials: S
authors.lastname: Gambelli
authors.forename: S A
authors.initials: SA
authors.lastname: Tripodi
authors.forename: G
authors.initials: G
authors.lastname: Berti
authors.forename: C
authors.initials: C
authors.lastname: Salvadori
authors.forename: A
authors.initials: A
authors.lastname: Tessa
authors.forename: A
authors.initials: A
authors.lastname: Federico
mesh_terms: D000251:Adenosine Triphosphatases / Q000235:genetics*; D017209:Apoptosis / Q000235:genetics / Q000502:physiology; D001933:Brain Stem / Q000473:pathology; D002452:Cell Count; D002540:Cerebral Cortex / Q000473:pathology*; D002675:Child, Preschool; D004249:DNA Damage / Q000235:genetics; D053938:DNA Fragmentation / Q000235:genetics / Q000502:physiology; D005260:Female; D006801:Humans; D020287:In Situ Nick-End Labeling / Q000706:statistics & numerical data*; D007888:Leigh Disease / Q000175:diagnosis / Q000235:genetics / Q000473:pathology*; D009154:Mutation; D009474:Neurons / Q000473:pathology
chemical_list: D000251:Adenosine Triphosphatases