CADASIL in Arabs: clinical and genetic findings

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is increasingly recognized as an inherited arterial disease leading to a step-wise decline and eventually to dementia. CADASIL is caused by mutations in NOTCH3 epidermal growth factor-like repeat tha...

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Bibliographic Details
Published in:	BMC medical genetics Vol. 8; no. 1; p. 67
Main Authors:	Bohlega, Saeed, Al Shubili, Asmahan, Edris, Abdulrahman, Alreshaid, Abdulrahman, Alkhairallah, Thamer, AlSous, M Walid, Farah, Samir, Abu-Amero, Khaled K
Format:	Journal Article
Language:	English
Published:	England BioMed Central Ltd 09-11-2007 BioMed Central BMC
Subjects:	Aged Arabs Blood circulation disorders CADASIL - ethnology CADASIL - genetics Complications and side effects Diagnosis DNA Mutational Analysis Exons Female Health aspects Humans Kuwait Magnetic resonance imaging Male Middle Aged Mutation (Biology) Pedigree Receptor, Notch3 Receptors, Notch - genetics Risk factors Saudi Arabia Yemen United Kingdom
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Summary:	Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is increasingly recognized as an inherited arterial disease leading to a step-wise decline and eventually to dementia. CADASIL is caused by mutations in NOTCH3 epidermal growth factor-like repeat that maps to chromosome 19. CADASIL cases have been identified in most countries of Western and Central Europe, the Americas, Japan, Australia, the Caribbean, South America, Tanzania, Turkey, South Africa and Southeast Asia, but not in Arabs. We studied three families from Saudi Arabia (Family A), Kuwait (Family B) and Yemen (Family C) with 19 individuals affected by CADASIL. The mean age of onset was 31 +/- 6 and the clinical presentation included stroke in 68%, subcortical dementia in 17% and asymptomatic leukoariosis detected by MRI in 15%. Migraine and depression were frequently associated, 38% and 68% respectively. The mean age of death was 56 +/- 11. All NOTCH3 exons were screened for mutations, which revealed the presence of previously reported mutations c.406C>T (p.Arg110>Cys) in two families (family A&B) and c.475C>T (p.Arg133>Cys) mutation in family C. CADASIL occurs in Arabs, with clinical phenotype and genotype similar to that in other ethnic groups.
Bibliography:	ObjectType-Article-1 SourceType-Scholarly Journals-1 ObjectType-Feature-2 content type line 23
ISSN:	1471-2350 1471-2350
DOI:	10.1186/1471-2350-8-67