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

doi:10.1136/jnnp.2003.016410

Article

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

Journal of neurology, neurosurgery, and psychiatry - 1 Jun 2004

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

Abstract excerpt

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...

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