Battisti C, Formichi P, Radi E, Malandrini A, Federico A
O.U. of Neurometabolic Diseases, Department of Neurological, Neurosurgical and Behavioural Sciences, Policlinico Le Scotte, Siena, Italy.
Clin Neuropathol. 2009 Sep-Oct;28(5):358-61.
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.
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).
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.
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.
评估凋亡在伴有皮质下梗死和白质脑病的常染色体显性遗传性脑动脉病（CADASIL）脑损伤发病机制中的作用，CADASIL是一种由NOTCH3基因突变引起的遗传性微血管病，可导致认知功能下降和痴呆。
采用末端脱氧核苷酸转移酶（TdT）介导的dUTP缺口末端标记法（TUNEL）检测1例年轻CADASIL患者颞叶、脑干、延髓、海马和基底节中的凋亡细胞核。
我们的结果显示，在所检查的大多数脑区中，神经胶质细胞大量参与凋亡性细胞死亡；仅在脑干区域明显存在神经元凋亡。
我们推测，在疾病早期，神经元凋亡的累及仅限于脑干细胞，而皮质区域未受累，皮质区域在疾病后期会出现神经元凋亡和认知功能下降。
