[Clinical autosomal dominating arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL)].
CADASIL (cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy) is a diffuse disease of small arteries, predominating in the brain. It starts during mid-adulthood and is characterized by recurrent ischaemic events (transient or permanent), attacks of migraine with aura, severe mood disorders, subcortical dementia and at MRI white periventricular leukoencephalopathy. CADASIL is an autosomal dominant disease. The gene Notch3 on which the mutation was detected is located on chromosome 19. There is so far no specific treatment and death occurs after a mean of twenty years.
Mendel
T
T
II Kliniki Neurologicznej Instytutu Psychiatrii i Neurologii w Warszawie.
Członkowska
A
A
D000328:Adult; D000368:Aged; D001921:Brain / Q000473:pathology; D002869:Chromosome Aberrations / Q000235:genetics; D025063:Chromosome Disorders; D002888:Chromosomes, Human, Pair 19 / Q000235:genetics; D015161:Dementia, Multi-Infarct / Q000175:diagnosis* / Q000235:genetics; D005260:Female; D015870:Gene Expression / Q000235:genetics; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D017354:Point Mutation / Q000235:genetics; D014057:Tomography, X-Ray Computed