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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Abstract

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.

 
 

About the authors

Sergey N. Illarioshkin

Research Center of Neurology

Email: snillario@gmail.com
ORCID iD: 0000-0002-2704-6282

D. Sci. (Med.), Prof., RAS Full Member, Deputy Director for Science; Director, Brain Institute

Россия, 125367, Moscow, Volokolamskoye shosse, 80

P. A. Slominsky

Institute of Molecular Genetics, Russian Academy of Sciences

Email: snillario@gmail.com
Россия, Moscow

M. I. Shadrina

Institute of Molecular Genetics, Russian Academy of Sciences

Email: snillario@gmail.com
Россия, Moscow

M. V. Partola

Institute of Molecular Genetics, Russian Academy of Sciences

Email: snillario@gmail.com
Россия, Moscow

D. V. Kandyba

Saint-Petersburg Medical Academy of Postgraduate Education

Email: snillario@gmail.com
Россия, Saint-Petersburg

N. M. Zhulev

Saint-Petersburg Medical Academy of Postgraduate Education

Author for correspondence.
Email: snillario@gmail.com
Россия, Saint-Petersburg

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Copyright (c) 2008 Illarioshkin S.N., Slominsky P.A., Shadrina M.I., Partola M.V., Kandyba D.V., Zhulev N.M.

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