[Hereditary CADASIL cerebral arteriopathy. Report of a family].
We describe two members of a German family with cerebral autosomal dominant arteriopathy (CADASIL), which is characterized by recurrent subcortical ischemic strokes, mild dementia and leukoencephalopathy. The clinical features of the disease are suggestive of Binswanger's subcortical arteriosclerotic encephalopathy. However, it differs by the lack of hypertension and familial aggregation with autosomal dominant inheritance. Magnetic resonance imaging (MRI) of the brain shows subcortical ischemic infarcts affecting the periventricular white matter, the basal ganglia and the brain stem. On T2-weighted imaging, areas of hyperintensity were found in the white matter of both cerebral hemispheres with preponderance of frontal and anterotemporal regions. We assume that the underlying disease in this family is CADASIL with subcortical infarcts and leukoencephalopathy. The recently assigned disease locus on chromosome 19 was confirmed in this family. A treatment trial with acetylsalicylate was started in the affected members of the family.
Mayer
M
M
Neurologische Klinik, Klinikum Grosshadern, Ludwig-Maximilians-Universität München.
Dichgans
M
M
Gasser
T
T
Büttner
U
U
Uttner
I
I
Straube
A
A
D000328:Adult; D000368:Aged; D001479:Basal Ganglia / Q000098:blood supply / Q000473:pathology; D001925:Brain Damage, Chronic / Q000175:diagnosis / Q000235:genetics*; D002545:Brain Ischemia / Q000175:diagnosis / Q000235:genetics*; D001933:Brain Stem / Q000098:blood supply / Q000473:pathology; D002540:Cerebral Cortex / Q000098:blood supply / Q000473:pathology; D002544:Cerebral Infarction / Q000175:diagnosis / Q000235:genetics*; D002552:Cerebral Ventricles / Q000098:blood supply / Q000473:pathology; D002869:Chromosome Aberrations / Q000235:genetics*; D025063:Chromosome Disorders; D002888:Chromosomes, Human, Pair 19; D003937:Diagnosis, Differential; D005260:Female; D005799:Genes, Dominant / Q000235:genetics*; D005819:Genetic Markers / Q000235:genetics; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D010375:Pedigree
D005819:Genetic Markers