nnpNeurology, Neuropsychiatry, PsychosomaticsНеврология, нейропсихиатрия, психосоматика2074-27112310-1342"IMA-Press", LLC10.14412/2074-2711-2026-1-70-75nnp-2778Research ArticleCLINICAL OBSERVATIONSКЛИНИЧЕСКИЕ НАБЛЮДЕНИЯCerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL)Церебральная аутосомно-доминантная артериопатия с подкорковыми инфарктами и лейкоэнцефалопатией (CADASIL)https://orcid.org/0000-0002-7682-6672МаксимоваМ. Ю.MaksimovaM. Yu.

Марина Юрьевна Максимова

125367; Волоколамское шоссе, 80; Москва

Marina Yurievna Maksimova

125367; 80, Volokolamskoe Sh.; Moscow

ncnmaximova@mail.ruhttps://orcid.org/0000-0002-9397-3746АйрапетоваА. С.AirapetovaA. S.

125367; Волоколамское шоссе, 80; Москва

125367; 80, Volokolamskoe Sh.; Moscow

ФГБНУ «Российский центр неврологии и нейронаук»РоссияRussian Center of Neurology and NeuroscienceRussian Federation2026220220261817075Copyright © Maksimova M.Y., Airapetova A.S., 20262026Максимова М.Ю., Айрапетова А.С.Maksimova M.Y., Airapetova A.S.Данная работа распространяется под лицензией Creative Commons Attribution 4.0.This work is licensed under a Creative Commons Attribution 4.0 License.https://nnp.ima-press.net/nnp/article/view/2778

   Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a monogenic hereditary disease of the small vessels of the brain caused by mutations in the NOTCH3 gene. We present the case of a 46-year-old patient whose CADASIL diagnosis was confirmed by genetic testing. In March 2023, the patient suffered an acute cerebrovascular accident with an infarction in the right midbrain tegmentum, developing diplopia when looking to the left, ataxia, followed by regression of symptoms. In June 2024, the patient's behaviour changed and weakness appeared in his right arm. An MRI revealed a subacute infarction in the basal structures of the left hemisphere of the brain, diffuse changes in the white matter of the temporal and frontal lobes, multiple small deep (lacunar) infarcts in the basal structures of both hemispheres of the cerebrum, the left thalamus, periventricular white matter, and corpus callosum. Genetic testing revealed a heterozygous mutation in the NOTCH3 gene – p.R169C (g528933696). A distinctive feature of clinical observation is the absence of migraine in patients with genetically confirmed CADASIL syndrome, as well as clinically pronounced cognitive and neuropsychological disorders.

   Церебральная аутосомно-доминантная артериопатия с подкорковыми инфарктами и лейкоэнцефалопатией (CADASIL) – моногенное наследственное заболевание мелких сосудов головного мозга, причиной которого являются мутации в гене NOTCH3. Представлено наблюдение пациента 46 лет, у которого диагноз CADASIL был подтвержден генетическим исследованием. В марте 2023 г. пациент перенес острое нарушение мозгового кровообращения с возникновением инфаркта в покрышке среднего мозга справа, развитием диплопии при взгляде влево, атаксии, последующим регрессом симптомов. В июне 2024 г. изменилось поведение пациента, появилась слабость в правой руке. При МРТ выявлены подострый инфаркт в области базальных структур левого полушария мозга, диффузные изменения белого вещества височных и лобных долей, множественные малые глубинные (лакунарные) инфаркты в базальных структурах обоих полушарий большого мозга, левом таламусе, перивентрикулярном белом веществе, мозолистом теле. По результатам генетического исследования выявлена гетерозиготная мутация гена NOTCHЗ – р.R169C (г528933696). Особенностью клинического наблюдения является отсутствие у пациента с генетически подтвержденным синдромом CADASIL мигрени, а также клинически выраженных когнитивных и нейропсихологических нарушений.

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The authors declare that there are no conflicts of interest present.