Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy maps to chromosome 19q12.
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) has been recently reported as a cause of stroke. It is characterized, in the absence of hypertension, by recurrent subcortical ischaemic strokes, starting in early or midadulthood and leading in some patients to dementia. Magnetic resonance imaging and pathological examination show numerous small subcortical infarcts and a diffuse leukoencephalopathy underlaid by a non-arteriosclerotic, non-amyloid angiopathy. We performed genetic linkage analysis in two unrelated families and assigned the disease locus to chromosome 19q12. Multilocus analysis with the location scores method established the best estimate for the location of the affected gene within a 14 centimorgan interval bracketed by D19S221 and D19S222 loci.
Tournier-Lasserve
E
E
Laboratoire de Pathologie de l'Immunité (INSERM CJF 90-01), Faculté de Médecine Necker-Enfants Malades, Paris, France.
Joutel
A
A
Melki
J
J
Weissenbach
J
J
Lathrop
G M
GM
Chabriat
H
H
Mas
J L
JL
Cabanis
E A
EA
Baudrimont
M
M
Maciazek
J
J
D000328:Adult; D001921:Brain / Q000473:pathology; D002539:Cerebral Arterial Diseases / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D002536:Cerebral Arteries / Q000473:pathology; D002544:Cerebral Infarction / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D002874:Chromosome Mapping; D002888:Chromosomes, Human, Pair 19; D005260:Female; D005799:Genes, Dominant; D008040:Genetic Linkage; D005819:Genetic Markers; D006801:Humans; D007968:Leukoencephalopathy, Progressive Multifocal / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D016133:Polymerase Chain Reaction; D013577:Syndrome
D005819:Genetic Markers