Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL): first description of a Russian family with the identified mutation in the Notch3 gene
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...
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Research Center of Neurology
2017-02-01
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| Series: | Анналы клинической и экспериментальной неврологии |
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| Online Access: | https://annaly-nevrologii.com/journal/pathID/article/viewFile/403/310 |
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| author | S. N. Illarioshkin P. A. Slominsky M. I. Shadrina M. V. Partola D. V. Kandyba N. M. Zhulev |
| author_facet | S. N. Illarioshkin P. A. Slominsky M. I. Shadrina M. V. Partola D. V. Kandyba N. M. Zhulev |
| author_sort | S. N. Illarioshkin |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-12-12T13:15:30Z |
| format | Article |
| id | doaj.art-3d9d1657008d4c3daa9e521eda70f63d |
| institution | Directory Open Access Journal |
| issn | 2075-5473 2409-2533 |
| language | English |
| last_indexed | 2024-12-12T13:15:30Z |
| publishDate | 2017-02-01 |
| publisher | Research Center of Neurology |
| record_format | Article |
| series | Анналы клинической и экспериментальной неврологии |
| spelling | doaj.art-3d9d1657008d4c3daa9e521eda70f63d2022-12-22T00:23:25ZengResearch Center of NeurologyАнналы клинической и экспериментальной неврологии2075-54732409-25332017-02-0122455010.17816/psaic403309Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL): first description of a Russian family with the identified mutation in the Notch3 geneS. N. Illarioshkin0P. A. Slominsky1M. I. Shadrina2M. V. Partola3D. V. Kandyba4N. M. Zhulev5Research Center of Neurology, Russian Academy of Medical Sciences, MoscowInstitute of Molecular Genetics, Russian Academy of Sciences, MoscowInstitute of Molecular Genetics, Russian Academy of Sciences, MoscowInstitute of Molecular Genetics, Russian Academy of Sciences, MoscowSaint-Petersburg Medical Academy of Postgraduate Education, Saint-PetersburgSaint-Petersburg Medical Academy of Postgraduate Education, Saint-PetersburgCerebral 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.https://annaly-nevrologii.com/journal/pathID/article/viewFile/403/310cadasilleukoencephalopathynotch3mutation screening |
| spellingShingle | S. N. Illarioshkin P. A. Slominsky M. I. Shadrina M. V. Partola D. V. Kandyba N. M. Zhulev Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL): first description of a Russian family with the identified mutation in the Notch3 gene Анналы клинической и экспериментальной неврологии cadasil leukoencephalopathy notch3 mutation screening |
| title | Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL): first description of a Russian family with the identified mutation in the Notch3 gene |
| title_full | Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL): first description of a Russian family with the identified mutation in the Notch3 gene |
| title_fullStr | Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL): first description of a Russian family with the identified mutation in the Notch3 gene |
| title_full_unstemmed | Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL): first description of a Russian family with the identified mutation in the Notch3 gene |
| title_short | Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL): first description of a Russian family with the identified mutation in the Notch3 gene |
| title_sort | cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy cadasil first description of a russian family with the identified mutation in the notch3 gene |
| topic | cadasil leukoencephalopathy notch3 mutation screening |
| url | https://annaly-nevrologii.com/journal/pathID/article/viewFile/403/310 |
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