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 with diffuse 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 832G>A 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.
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL): first description of a Russian family with the identified mutation in the Notch3 gene
- Authors: Illarioshkin S.N.1, Slominsky P.A.2, Shadrina M.I.2, Partola M.V.2, Kandyba D.V.3, Zhulev N.M.3
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Affiliations:
- Research Center of Neurology, Russian Academy of Medical Sciences, Moscow
- Institute of Molecular Genetics, Russian Academy of Sciences, Moscow
- Saint-Petersburg Medical Academy of Postgraduate Education, Saint-Petersburg
- Issue: Vol 2, No 2 (2008)
- Pages: 45-50
- Section: Original articles
- URL: https://ogarev-online.ru/2075-5473/article/view/124394
- DOI: https://doi.org/10.17816/psaic403
- ID: 124394
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About the authors
S. N. Illarioshkin
Research Center of Neurology, Russian Academy of Medical Sciences, Moscow
Author for correspondence.
Email: platonova@neurology.ru
Russian Federation
P. A. Slominsky
Institute of Molecular Genetics, Russian Academy of Sciences, Moscow
Email: platonova@neurology.ru
Russian Federation
M. I. Shadrina
Institute of Molecular Genetics, Russian Academy of Sciences, Moscow
Email: platonova@neurology.ru
Russian Federation
M. V. Partola
Institute of Molecular Genetics, Russian Academy of Sciences, Moscow
Email: platonova@neurology.ru
Russian Federation
D. V. Kandyba
Saint-Petersburg Medical Academy of Postgraduate Education, Saint-Petersburg
Email: platonova@neurology.ru
Russian Federation
N. M. Zhulev
Saint-Petersburg Medical Academy of Postgraduate Education, Saint-Petersburg
Email: platonova@neurology.ru
Russian Federation
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