[Hereditary autosomal dominant brain infarction].
Some aspects of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) are reviewed. The condition causes stroke and vascular dementia. Pathological examination reveals multiple small, deep infarcts, leukoencephalopathy, and non-atherosclerotic, non-amyloid angiopathy which mainly involve the small cerebral arteries where there are severe alterations in vascular smooth-muscle cells. In hereditary autosomal dominant stroke condition patients with mutations in the human Notch 3 gene on chromosome 19 have been identified. Skin and muscle biopsy may be useful for diagnosing this condition. No causal treatment is available. Hereditary autosomal dominant stroke condition has not been diagnosed in any Norwegian family to date.
Nevrologisk avdeling Regionsykehuset i Trondheim.
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Hagen
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Bovim
D000328:Adult; D002544:Cerebral Infarction / Q000175:diagnosis / Q000235:genetics*; D002561:Cerebrovascular Disorders / Q000175:diagnosis / Q000235:genetics*; D002869:Chromosome Aberrations; D025063:Chromosome Disorders; D002903:Chromosomes, Human, 19-20; D015161:Dementia, Multi-Infarct / Q000175:diagnosis / Q000235:genetics; D003937:Diagnosis, Differential; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D008297:Male; D008875:Middle Aged