Magnetic-resonance imaging semiology of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) in subjects from Russian Federation

Abstract

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.