Yousry T A, Seelos K, Mayer M, Brüning R, Uttner I, Dichgans M, Mammi S, Straube A, Mai N, Filippi M
Department of Neuroradiology, Ludwig-Maximilian University, Munich, Germany.
AJNR Am J Neuroradiol. 1999 Jan;20(1):91-100.
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is an arteriopathy related to a genetic defect of the notch 3 gene on chromosome 19. The purpose of this study was to evaluate lesion distribution and volume using MR imaging and to correlate the lesion volume with the neurologic and neuropsychological findings.
Twenty members of two families (14 with CADASIL as determined by linkage analysis, six healthy) were studied with MR imaging. Two observers evaluated the MR findings semiquantitatively and quantitatively. MR results were then correlated with neurologic and neuropsychological findings.
A typical pattern of lesion distribution in patients with CADASIL was found: the frontal lobe was the site with the highest lesion load, followed by the temporal lobe and the insula. The total lesion volume on T1-weighted MR images correlated significantly with the degree of disability and the degree of impairment in neuropsychological functions (including attention, memory, and conceptual and visuospatial functions).
In CADASIL patients, a common pattern of cerebral lesion distribution is found. The total T1 lesion volume is an important parameter to correlate with disability, as it may prove to be helpful in predicting the natural history of the disease.
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）是一种与19号染色体上Notch 3基因遗传缺陷相关的动脉病。本研究的目的是利用磁共振成像（MR成像）评估病变分布及体积，并将病变体积与神经和神经心理学检查结果进行关联。
对两个家族的20名成员（经连锁分析确定其中14名患有CADASIL，6名健康）进行MR成像研究。两名观察者对MR检查结果进行半定量和定量评估。然后将MR结果与神经和神经心理学检查结果进行关联。
发现CADASIL患者典型的病变分布模式：额叶是病变负荷最高的部位，其次是颞叶和岛叶。T1加权MR图像上的总病变体积与残疾程度及神经心理学功能损害程度（包括注意力、记忆力以及概念和视觉空间功能）显著相关。
在CADASIL患者中，发现了常见的脑病变分布模式。T1加权像上的总病变体积是与残疾相关的一个重要参数，因为它可能有助于预测疾病的自然病程。
