Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy in Arabs.
OBJECTIVE
To investigate the Notch 3 mutation spectrum in Arab patients with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy CADASIL, which is an inherited cerebrovascular disease characterized by recurrent subcortical ischemic stroke starting in the third or fourth decade.


METHODS
Complete neurological evaluation and sequencing of the Notch 3 gene were carried out at King Faisal Specialist Hospital & Research Centre in 2007 on 2 families from Riyadh, Kingdom of Saudi Arabia and Sudan affected by CADASIL.


RESULTS
The index cases had adult onset stroke, vascular dementia, behavioral and psychiatric symptoms and accelerated deaths. In both families, abnormal magnetic resonance imaging findings were detected in symptomatic and asymptomatic individuals. All Notch 3 exons were screened for mutations in both families and no known or novel mutation could be found; although, in one family the brain biopsy showed the typical granular osmiophilic material deposition and the vascular smooth muscle cells.


CONCLUSIONS
This is the first 2 cases of CADASIL in Arabs, which occur without an obvious Notch 3 mutation.
Bohlega
Saeed A
SA
Department of Neurosciences, King Faisal Specialist Hospital & Research Centre, PO Box 3354, MBC 76, Riyadh 11211, Kingdom of Saudi Arabia. boholega@kshrc.edu.sa
Abu-Amero
Khaled K
KK
D000328:Adult; D000368:Aged; D018912:Arabs / Q000235:genetics*; D046589:CADASIL / Q000208:ethnology* / Q000235:genetics* / Q000473:pathology; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D010375:Pedigree; D000071656:Receptor, Notch3; D051880:Receptors, Notch / Q000235:genetics*; D012529:Saudi Arabia
C499374:NOTCH3 protein, human; D000071656:Receptor, Notch3; D051880:Receptors, Notch