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

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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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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