Abstract | BACKGROUND: METHODS: We studied three families from Saudi Arabia (Family A), Kuwait (Family B) and Yemen (Family C) with 19 individuals affected by CADASIL. RESULTS: 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. CONCLUSION:
CADASIL occurs in Arabs, with clinical phenotype and genotype similar to that in other ethnic groups.
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Authors | Saeed Bohlega, Asmahan Al Shubili, Abdulrahman Edris, Abdulrahman Alreshaid, Thamer Alkhairallah, M Walid AlSous, Samir Farah, Khaled K Abu-Amero |
Journal | BMC medical genetics
(BMC Med Genet)
Vol. 8
Pg. 67
(Nov 09 2007)
ISSN: 1471-2350 [Electronic] England |
PMID | 17996090
(Publication Type: Journal Article)
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Chemical References |
- NOTCH3 protein, human
- Receptor, Notch3
- Receptors, Notch
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Topics |
- Aged
- Arabs
- CADASIL
(ethnology, genetics)
- DNA Mutational Analysis
- Exons
- Female
- Humans
- Kuwait
- Male
- Middle Aged
- Pedigree
- Receptor, Notch3
- Receptors, Notch
(genetics)
- Saudi Arabia
- Yemen
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