دورية أكاديمية
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL): first description of a Russian family with the identified mutation in the Notch3 gene
| العنوان: | Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL): first description of a Russian family with the identified mutation in the Notch3 gene |
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| المؤلفون: | S. N. Illarioshkin, P. A. Slominsky, M. I. Shadrina, M. V. Partola, D. V. Kandyba, N. M. Zhulev |
| المصدر: | Анналы клинической и экспериментальной неврологии, Vol 2, Iss 2, Pp 45-50 (2017) |
| بيانات النشر: | Research Center of Neurology, 2017. |
| سنة النشر: | 2017 |
| المجموعة: | LCC:Neurosciences. Biological psychiatry. Neuropsychiatry |
| مصطلحات موضوعية: | cadasil, leukoencephalopathy, notch3, mutation screening, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571 |
| الوصف: | Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a recently described familial form of ischemic stroke caused by mutations in the Notch3 gene on chromosome 19q12. Clinically, CADASIL develops as a cerebrovascular small vessel disease: against a background of repeated lacunar strokes, progressing are subcortical, pseudobulbar and cerebellar syndromes and cognitive decline. Neuroimaging methods (CT, MRI) reveal combination of small lacunar infarcts of variable location withdiffuse white matter changes (leucoaraosis). In this paper we present the first description of a Russian family with the verified mutation in the Notch3 gene, nucleotide change 832GA in exon 5 leading to substitution of valine to methionine (Val252Met) at protein codon 252. This missense mutation is novel and has not been reported before in other families with CADASIL syndrome. The observation presented confirms that CADASIL syndrome should be suspected in all cases of white matter disease of unknown origin. |
| نوع الوثيقة: | article |
| وصف الملف: | electronic resource |
| اللغة: | English Russian |
| تدمد: | 2075-5473 2409-2533 |
| Relation: | https://annaly-nevrologii.com/journal/pathID/article/viewFile/403/310; https://doaj.org/toc/2075-5473; https://doaj.org/toc/2409-2533 |
| DOI: | 10.17816/psaic403 |
| URL الوصول: | https://doaj.org/article/3d9d1657008d4c3daa9e521eda70f63d |
| رقم الأكسشن: | edsdoj.3d9d1657008d4c3daa9e521eda70f63d |
| قاعدة البيانات: | Directory of Open Access Journals |
| تدمد: | 20755473 24092533 |
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| DOI: | 10.17816/psaic403 |