Chabriat H, Levy C, Taillia H, Iba-Zizen M T, Vahedi K, Joutel A, Tournier-Lasserve E, Bousser M G
Service de Neurologie, Hôpital Lariboisière, Paris, France.
Neurology. 1998 Aug;51(2):452-7. doi: 10.1212/wnl.51.2.452.
To investigate the location and severity of MRI signal abnormalities in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL).
One hallmark of this arteriopathy due to mutations of Notch 3 gene is the presence of MRI signal abnormalities in both symptomatic and asymptomatic patients.
MRIs of 75 patients (43 with symptoms) were reviewed by a neuroradiologist masked to their clinical status. After assessing the presence of MRI lesions on T1- and T2-weighted images (T1-WI, T2-WI) in different subcortical regions, the severity of hyperintensities on T2-WI was scored using a global rating scale and a regional semiquantitative scale in the periventricular white matter (PV), deep white matter (WM), basal ganglia (BG), and infratentorial areas (IT).
Sixty-eight patients (90%) had hyperintensities on T2-WI located in the white matter, more frequent in PV (96%) and WM (85%) than in the superficial white matter (25%). Hyperintensities also occurred in BG (60%) and brainstem (45%). Forty-seven patients (62%) presented with hypointensities on T1-WI. In one-third of the affected individuals, white matter hyperintensities occurred in the absence of small deep infarcts on T1-WI. The frequency and severity scores calculated for PV, WM, BG, or IT hyperintensities increase dramatically with age. These scores were higher in symptomatic compared with asymptomatic gene carriers. Dementia, Rankin score > 1, or both occurred only in the presence of diffuse white matter signal abnormalities.
Our results suggest that different subcortical areas have different vulnerabilities to ischemia in CADASIL. The age effect we observed may show an accumulation of lesions with aging during the course of the disease. A prospective study is needed to investigate if the rating of MRI lesions is of prognostic value in CADASIL.
研究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）患者MRI信号异常的部位及严重程度。
由Notch 3基因突变引起的这种动脉病的一个特征是有症状和无症状患者均存在MRI信号异常。
由一位对患者临床状况不知情的神经放射科医生对75例患者（43例有症状）的MRI进行评估。在评估不同皮质下区域T1加权像（T1-WI）和T2加权像（T2-WI）上MRI病变的存在情况后，采用整体评分量表和脑室旁白质（PV）、深部白质（WM）、基底节（BG）及幕下区域（IT）的区域半定量量表对T2-WI上的高信号严重程度进行评分。
68例患者（90%）T2-WI上白质出现高信号，在PV（96%）和WM（85%）中比在浅表白质（25%）中更常见。BG（60%）和脑干（45%）也出现高信号。47例患者（62%）T1-WI上出现低信号。在三分之一的受累个体中，T1-WI上白质高信号出现时并无小的深部梗死。PV、WM、BG或IT高信号的频率和严重程度评分随年龄显著增加。有症状的基因携带者的这些评分高于无症状者。痴呆、改良Rankin量表评分>1或两者均出现仅见于存在弥漫性白质信号异常时。
我们的结果提示，CADASIL中不同皮质下区域对缺血的易损性不同。我们观察到的年龄效应可能表明在疾病过程中病变随年龄积累。需要进行前瞻性研究以调查MRI病变评分在CADASIL中是否具有预后价值。
