[Dominant autosomal cerebral arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). A review].
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a familial condition caused by a mutation of the Notch3 gen in chromosome 19. Accumulation of osmiophilic granular material (GOM) on the middle layer of small and medium-sized cerebral arteries leads to progressive narrowing of the blood vessels. As a result, clinical findings include migraine, cerebrovascular ischemic events, vascular dementia and a number of neuropsychiatric disorders associated to an extensive leukoencephalopathy readily shown by MRI studies. GOM deposits, however, are systemic and maybe shown ultrastructuraly on skin vessels by means of a biopsy. Detection of mutations of the Notch3 gen by molecular genetics may also allow accurate diagnosis during life. So far, there is no effective treatment for this disorder.
Navarro
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E
Servicio de Neurología. Hospital General Universitario Gregorio Marañón. Madrid. España. enavarrom@medynet.com
Díaz
F
F
Muñoz
L
L
Giménez-Roldán
S
S
D000328:Adult; D002536:Cerebral Arteries / Q000473:pathology*; D002888:Chromosomes, Human, Pair 19; D015161:Dementia, Multi-Infarct / Q000209:etiology / Q000235:genetics / Q000473:pathology / Q000503:physiopathology; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D009154:Mutation; D012307:Risk Factors