Lyoubi-Idrissi Aicha, De Guio François, Chabriat Hugues, Jouvent Eric
From the Department of Neurology, AP-HP, Lariboisière Hospital, Paris, France (A.L.-I., H.C., E.J.); DHU NeuroVasc Sorbonne Paris Cité, France (A.L.I., F.D.G., H.C., E.J.); UNIACT, NeuroSpin, Gif-sur-Yvette, France (A.L.-I., E.J.); and University Paris Diderot, Sorbonne Paris Cité, UMR-S 1161 INSERM, France (F.D.G., H.C., E.J.).
Stroke. 2017 May;48(5):1408-1411. doi: 10.1161/STROKEAHA.116.015724. Epub 2017 Mar 27.
Cortical microinfarcts and secondary cortical degeneration have been demonstrated in cerebral autosomal-dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), a severe monogenic cerebral small vessel disease. The aim of this study was to determine whether focal macroscopic cortical lesions can be detected using a specific in vivo magnetic resonance imaging approach.
Three-dimensional T1 magnetic resonance imaging scans were obtained in 28 nondemented nondisabled CADASIL patients and 29 age- and sex-matched controls. The cortical mantle of patients and controls were extracted using Brainvisa by an experienced user and then evaluated during a dedicated reading session by a second reader after removing the white matter to stay blind to the clinical status. Thereafter, confirmed focal macroscopic cortical lesions were characterized using all available imaging data, including 7-T magnetic resonance imaging in some patients.
Three focal macroscopic cortical lesions were confirmed in 3 of 28 patients (11%) but none in controls. All lesions were observed in the close vicinity of severe signal changes in the underlying white matter.
Focal macroscopic cortical lesions can be detected using specific magnetic resonance imaging approaches in CADASIL patients long before the end stage of the disorder. The underlying mechanisms and precise clinical consequences of these cortical changes still need to be determined.
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）中已证实存在皮质微梗死和继发性皮质变性，这是一种严重的单基因脑小血管疾病。本研究的目的是确定是否可以使用特定的活体磁共振成像方法检测到局灶性宏观皮质病变。
对28例无痴呆且无残疾的CADASIL患者和29例年龄及性别匹配的对照者进行三维T1磁共振成像扫描。由经验丰富的使用者通过Brainvisa提取患者和对照者的皮质层，然后在去除白质以对临床状态保持盲态后，由另一位读者在专门的阅片过程中进行评估。此后，使用所有可用的成像数据（包括部分患者的7-T磁共振成像）对确诊的局灶性宏观皮质病变进行特征描述。
28例患者中有3例（11%）确诊存在3处局灶性宏观皮质病变，而对照者中未发现此类病变。所有病变均出现在其下方白质严重信号改变的附近区域。
在CADASIL患者疾病终末期之前很久，就可以使用特定的磁共振成像方法检测到局灶性宏观皮质病变。这些皮质改变的潜在机制和确切临床后果仍有待确定。
