OBJECTIVE: To evaluate the role of apoptosis in the pathogenesis of brain lesions in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), a hereditary microangiopathy leading to cognitive decline and dementia, caused by mutations in the NOTCH3 gene. MATERIALS AND METHODS: Detection of apoptotic nuclei in temporal lobe, brain stem, medulla oblongata, hippocampus and basal ganglia from one young CADASIL patient was performed by terminal deoxynucleotidyl transferase (TdT)-mediated dUTP nick end-labeling (TUNEL). RESULTS: Our results showed a great involvement of glial cells in apoptotic cell death in the majority of the brain regions examined; neuronal apoptosis was significantly present only in the brain stem region. CONCLUSIONS: We hypothesized that in the early stages of the disease neuronal involvement of apoptosis is limited to the cells of the brain stem, sparing the cortical area which is involved in neuronal apoptosis and cognitive decline later.

Battisti, C., Formichi, P., Radi, E., Malandrini, A., Federico, A. (2009). Evaluation of brain apoptosis in a CADASIL postmortem case. CLINICAL NEUROPATHOLOGY, 28(5), 358-361 [10.2379/NP300147].

Evaluation of brain apoptosis in a CADASIL postmortem case

BATTISTI, CARLA;FORMICHI, PATRIZIA;RADI, ELENA;MALANDRINI, ALESSANDRO;FEDERICO, ANTONIO
2009-01-01

Abstract

OBJECTIVE: To evaluate the role of apoptosis in the pathogenesis of brain lesions in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), a hereditary microangiopathy leading to cognitive decline and dementia, caused by mutations in the NOTCH3 gene. MATERIALS AND METHODS: Detection of apoptotic nuclei in temporal lobe, brain stem, medulla oblongata, hippocampus and basal ganglia from one young CADASIL patient was performed by terminal deoxynucleotidyl transferase (TdT)-mediated dUTP nick end-labeling (TUNEL). RESULTS: Our results showed a great involvement of glial cells in apoptotic cell death in the majority of the brain regions examined; neuronal apoptosis was significantly present only in the brain stem region. CONCLUSIONS: We hypothesized that in the early stages of the disease neuronal involvement of apoptosis is limited to the cells of the brain stem, sparing the cortical area which is involved in neuronal apoptosis and cognitive decline later.
2009
Battisti, C., Formichi, P., Radi, E., Malandrini, A., Federico, A. (2009). Evaluation of brain apoptosis in a CADASIL postmortem case. CLINICAL NEUROPATHOLOGY, 28(5), 358-361 [10.2379/NP300147].
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11365/7013
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