Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy in an Israeli family

Radi Shahien1, Silvia Bianchi2, Abdalla Bowirrat11Department of Neurology, Ziv Medical Center, Safed, Israel; 2Department of Neurological and Behavioral Sciences, University of Siena, Viale Bracci, Siena, ItalyAbstract: Cerebral autosomal-dominant arteriopathy with subcortical infarcts and leukoence...

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Autores principales:	Shahien R, Bianchi S, Bowirrat A
Formato:	article
Lenguaje:	EN
Publicado:	Dove Medical Press 2011
Materias:	Neurosciences. Biological psychiatry. Neuropsychiatry RC321-571 Neurology. Diseases of the nervous system RC346-429
Acceso en línea:	https://doaj.org/article/a368f529df0b4a659162396ed9b1dd63
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spelling	oai:doaj.org-article:a368f529df0b4a659162396ed9b1dd632021-12-02T04:29:09ZCerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy in an Israeli family1176-63281178-2021https://doaj.org/article/a368f529df0b4a659162396ed9b1dd632011-06-01T00:00:00Zhttp://www.dovepress.com/cerebral-autosomal-dominant-arteriopathy-with-subcortical-infarcts-and-a7685https://doaj.org/toc/1176-6328https://doaj.org/toc/1178-2021Radi Shahien1, Silvia Bianchi2, Abdalla Bowirrat11Department of Neurology, Ziv Medical Center, Safed, Israel; 2Department of Neurological and Behavioral Sciences, University of Siena, Viale Bracci, Siena, ItalyAbstract: Cerebral autosomal-dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is the most common monogenic form of hereditary cerebral microangiopathy, and is caused by over 170 different mutations in the NOTCH3 gene at locus 19p13.1&ndash;13.26. We report the first study of familial CADASIL in a 39-year-old Jewish woman and her mother who had died previously. The patient&#39;s investigations revealed a normal hemogram with no vascular risk factors or chronic disease. Lumbar puncture was normal. Cranial computed tomography scan revealed bilateral diffuse hypodensities in the subcortical white matter. Cranial magnetic resonance imaging showed hyperintense lesions in the cerebral white matter on T2-weighted images. On electron microscopy, a characteristic granular osmiophilic material was seen in the basement membrane surrounding the pericytes and smooth muscle cells in small-sized and medium-sized vessels. Molecular analysis of the NOTCH3 gene was performed with automatic sequencing of exon 3 and 4 (and intron-exon boundaries) showing a nucleotide c.268C &gt; T substitution, leading to a pathogenic amino acid substitution of p.Arg90Cys, confirming a diagnosis of CADASIL. This mutation was also found in the patient&#39;s mother. Although the exact prevalence of CADASIL is not known, this disorder has been reported worldwide, and now including Jews, with a genotype and clinical phenotype similar to that in other ethnic groups.Keywords: CADASIL, autosomal-dominant inheritance, genetic diagnostics, NOTCH3, arteriopathyShahien RBianchi SBowirrat ADove Medical PressarticleNeurosciences. Biological psychiatry. NeuropsychiatryRC321-571Neurology. Diseases of the nervous systemRC346-429ENNeuropsychiatric Disease and Treatment, Vol 2011, Iss Issue 1, Pp 383-390 (2011)
institution	DOAJ
collection	DOAJ
language	EN
topic	Neurosciences. Biological psychiatry. Neuropsychiatry RC321-571 Neurology. Diseases of the nervous system RC346-429
spellingShingle	Neurosciences. Biological psychiatry. Neuropsychiatry RC321-571 Neurology. Diseases of the nervous system RC346-429 Shahien R Bianchi S Bowirrat A Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy in an Israeli family
description	Radi Shahien1, Silvia Bianchi2, Abdalla Bowirrat11Department of Neurology, Ziv Medical Center, Safed, Israel; 2Department of Neurological and Behavioral Sciences, University of Siena, Viale Bracci, Siena, ItalyAbstract: Cerebral autosomal-dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is the most common monogenic form of hereditary cerebral microangiopathy, and is caused by over 170 different mutations in the NOTCH3 gene at locus 19p13.1&ndash;13.26. We report the first study of familial CADASIL in a 39-year-old Jewish woman and her mother who had died previously. The patient&#39;s investigations revealed a normal hemogram with no vascular risk factors or chronic disease. Lumbar puncture was normal. Cranial computed tomography scan revealed bilateral diffuse hypodensities in the subcortical white matter. Cranial magnetic resonance imaging showed hyperintense lesions in the cerebral white matter on T2-weighted images. On electron microscopy, a characteristic granular osmiophilic material was seen in the basement membrane surrounding the pericytes and smooth muscle cells in small-sized and medium-sized vessels. Molecular analysis of the NOTCH3 gene was performed with automatic sequencing of exon 3 and 4 (and intron-exon boundaries) showing a nucleotide c.268C &gt; T substitution, leading to a pathogenic amino acid substitution of p.Arg90Cys, confirming a diagnosis of CADASIL. This mutation was also found in the patient&#39;s mother. Although the exact prevalence of CADASIL is not known, this disorder has been reported worldwide, and now including Jews, with a genotype and clinical phenotype similar to that in other ethnic groups.Keywords: CADASIL, autosomal-dominant inheritance, genetic diagnostics, NOTCH3, arteriopathy
format	article
author	Shahien R Bianchi S Bowirrat A
author_facet	Shahien R Bianchi S Bowirrat A
author_sort	Shahien R
title	Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy in an Israeli family
title_short	Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy in an Israeli family
title_full	Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy in an Israeli family
title_fullStr	Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy in an Israeli family
title_full_unstemmed	Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy in an Israeli family
title_sort	cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy in an israeli family
publisher	Dove Medical Press
publishDate	2011
url	https://doaj.org/article/a368f529df0b4a659162396ed9b1dd63
work_keys_str_mv	AT shahienr cerebralautosomaldominantarteriopathywithsubcorticalinfarctsandleukoencephalopathyinanisraelifamily AT bianchis cerebralautosomaldominantarteriopathywithsubcorticalinfarctsandleukoencephalopathyinanisraelifamily AT bowirrata cerebralautosomaldominantarteriopathywithsubcorticalinfarctsandleukoencephalopathyinanisraelifamily
_version_	1718401206853828608

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy in an Israeli family

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