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.

Introduction. Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is one of the most common genetic causes of small-vessel cerebral diseases.Objective. The aim of our study was to examine the frequency and severity of phenotypic spectrum in patients with CADASIL, including the study of the prevalence of the NOTCH3 gene mutations in patients with suspected CADASIL.Material and methods. Sanger sequencing of exons 2–7, 11 of NOTCH3 gene was conducted in 314 patients with suspected CADASIL (confirmed by anamnesis and magnetic resonance imaging (MRI)). Clinical and MRI data were collected and analyzed for 14 patients with CADASIL.Results. NOTCH3 gene aberrations in exons 2–7, 11 were detected in 34 of 314 examined patients, that is 11% of all cases. The most frequent aberrations are localized in exon 4 (70.4%), exon 3 and exon 6 (8.8%) of the NOTCH3 gene. A detailed analysis of clinical and instrumental data was conducted in 14 cases of confirmed CADASIL with pathogenic mutations.Conclusion. The age of manifestation of CADASIL in the Russian population varies significantly. Patients without a previous history of TIA/stroke may have an atypical course of the disease, including cerebellar ataxia and epilepsy. MRI pattern of the CADASIL patients of the studied cohort showed no severe damage of external capsules and temporal lobes. Spinal cord lesion are not to be excluded as a CADASIL symptom.