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Evaluation of brain apoptosis in a CADASIL postmortem case.
C Battisti1, P Formichi, E Radi
1O.U. of Neurometabolic Diseases, Department of Neurological, Neurosurgical and Behavioural Sciences, Policlinico Le Scotte, Siena, Italy.
Clinical Neuropathology
|October 1, 2009
Summary
Apoptosis significantly impacts glial cells in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) brain lesions. Neuronal apoptosis is initially confined to the brain stem, suggesting a progression in CADASIL pathogenesis.
Area of Science:
- Neuroscience
- Pathology
- Genetics
Background:
- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a hereditary microangiopathy linked to NOTCH3 gene mutations.
- CADASIL leads to cognitive decline and dementia due to progressive brain lesions.
Observation:
- This study investigated the role of apoptosis in CADASIL pathogenesis.
- Apoptotic nuclei were detected in various brain regions of a young CADASIL patient using TUNEL assay.
Findings:
- Glial cells exhibited significant apoptotic cell death across most examined brain regions.
- Neuronal apoptosis was predominantly observed in the brain stem.
Implications:
- Early-stage CADASIL may involve limited neuronal apoptosis primarily in the brain stem.
- Cortical neuronal apoptosis and cognitive decline might occur later in the disease progression.
