Song Jung-Kook, Noh Young Ook, Lee Jung Seok
Preventive Medicine, Jeju National University College of Medicine, Jeju, South Korea.
Eur Neurol. 2014;71(5-6):217-22. doi: 10.1159/000356199. Epub 2014 Jan 25.
Cerebral autosomal-dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is an inherited microangiopathy caused by mutations in the Notch3 gene. In the present study, we aimed to analyze cognitive and neuroimaging profiles of CADASIL patients with R544C mutation.
Fifty-eight consecutive patients with R544C mutation and 26 normal controls were investigated. The patients were divided into two groups depending on the presence (CADASIL with dementia: CADASIL-D) or absence of dementia (CADASIL no dementia: CADASIL-ND). We applied the same neuropsychological test to the three groups. Brain magnetic resonance images were obtained from 58 patients with R544C mutation. Linear regression models were used to assess the impact of lacunes and white matter hyperintensities on cognitive function in the CADASIL-ND group.
Compared to controls, the CADASIL-ND group demonstrated significant difficulties concerning measures of attention, executive function, and motor control. The CADASIL-D group was impaired in all cognitive domains that were assessed, except the language domain. After correction for age and educational level, the number of lacunes was associated with lower scores in the Alzheimer's Disease Assessment Scale cognitive subtest and Stroop color test in the CADASIL-ND group.
Non-Caucasian CADASIL patients with R544C mutation and Caucasian CADASIL patients show similar patterns of cognitive impairment.
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）是一种由Notch3基因突变引起的遗传性微血管病。在本研究中，我们旨在分析具有R544C突变的CADASIL患者的认知和神经影像学特征。
对58例连续的R544C突变患者和26名正常对照者进行了研究。根据是否存在痴呆（伴有痴呆的CADASIL：CADASIL-D）将患者分为两组。我们对三组进行了相同的神经心理学测试。从58例R544C突变患者中获取了脑磁共振图像。使用线性回归模型评估腔隙和白质高信号对CADASIL-ND组认知功能的影响。
与对照组相比，CADASIL-ND组在注意力、执行功能和运动控制测量方面存在显著困难。CADASIL-D组在所有评估的认知领域均受损，但语言领域除外。在校正年龄和教育水平后，腔隙数量与CADASIL-ND组阿尔茨海默病评估量表认知子测试和斯特鲁普颜色测试的较低分数相关。
具有R544C突变的非白种人CADASIL患者和白种人CADASIL患者表现出相似的认知障碍模式。
