俄罗斯联邦受试者大脑常染色体显性遗传性动脉病伴皮质下梗死和白质脑病(CADASIL)的磁共振成像符号学

C. Cherebillo, V. Nazarov, C. V. Lapin, N. Totolyan, E. Bubnova, G. Makshakov, A. Mazing, N. V. Shuleshova, Y. M. Kiryanov, V. Emanuel
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引用次数: 0

摘要

介绍伴有皮质下梗死和白质脑病的大脑常染色体显性遗传性动脉病(CADASIL)是小血管疾病的常见变体。神经影像学标志物的测定已经在早期阶段有助于更及时地诊断CADASIL。客观的该研究的目的是确定俄罗斯人群患者可能的CADASIL磁共振成像(MRI)生物标志物。材料和方法。该研究包括16名患者。CADASIL的诊断基于临床数据和MRI,并通过NOTCH3基因的分子遗传学研究得到证实。收集并分析了16例患者的脑MRI数据和5例患者的脊髓MRI数据。对2名受试者进行脑脊液(CSF)分析以进行不同诊断。后果在100%的病例中观察到白质高信号。分别有62%和68%的受试者发现颞前叶和外囊受累。多发性腔隙性梗死是CADASIL的特征。27%的患者检测到微出血。56%的病例出现脑萎缩。胼胝体和颈脊髓损伤2例。结论在额叶和顶叶、多发腔隙性梗死伴疑似CADASIL中检测到白质高信号,可以选择患者组进行进一步的分子遗传学检测,以检测NOTCH3基因的突变。
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Magnetic-resonance imaging semiology of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) in subjects from Russian Federation
Introduction. Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is common variant of small vessel disease. Determination of neuroimaging markers have already contributed at an early stage to the more timely diagnosis of the CADASIL.Objective. The aim of the study was to determine probable CADASIL magnetic resonance imaging (MRI) biomarkers for patients from the Russian population.Material and methods. The study included 16 patients. Diagnosis of CADASIL was suspected based on clinical data and an MRI and confi rmed by a molecular genetic study of the NOTCH3 gene. Brain MRI data from 16 patients and spinal cord MRI data from 5 patients were collected and analyzed. Cerebrospinal fl uid (CSF) analysis was performed for diff erential diagnosis in 2 subjects.Results. White matter hyperintensity was observed in 100% of cases. The involvement of the anterior temporal lobes and external capsules was revealed in 62 and 68% of subjects respectively. Multiple lacunar infarcts are characteristic for CADASIL. Microbleeds were detected in 27% of patients. Brain atrophy was observed in 56% of cases. Lesions in corpus callosum and cervical spinal cord were found in 2 patients.Conclusion. Detection of white matters hyperintensities in frontal and parietal lobes, multiple lacunar infarcts with suspected CADASIL makes it possible to select the group of patients for further molecular genetic testing in order to detect mutations in NOTCH3 gene.
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Russian Neurological Journal
Russian Neurological Journal Medicine-Neurology (clinical)
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49
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