Evaluation of brain apoptosis in a CADASIL postmortem case.
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.


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.
O.U. of Neurometabolic Diseases, Department of Neurological, Neurosurgical and Behavioural Sciences, Policlinico Le Scotte, Siena, Italy.
C
C
Battisti
P
P
Formichi
E
E
Radi
A
A
Malandrini
A
A
Federico
D000328:Adult; D017209:Apoptosis; D001921:Brain / Q000473:pathology*; D046589:CADASIL / Q000473:pathology*; D004253:DNA Nucleotidylexotransferase; D017809:Fatal Outcome; D006801:Humans; D020287:In Situ Nick-End Labeling; D009457:Neuroglia / Q000473:pathology; D009474:Neurons / Q000473:pathology; D016612:Paraffin Embedding; D010784:Photomicrography
D004253:DNA Nucleotidylexotransferase