[From gene to disease; from Notch3 to cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy].
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy' (CADASIL) is an autosomal dominant inherited arteriopathy leading to brain infarcts and dementia at middle age with extensive cerebral white matter changes on MRI. CADASIL is caused by mutations in the Notch3 gene on chromosome 19.
Oberstein
S A
SA
Afd. Klinische Genetica, Leids Universitair Medisch Centrum, Postbus 9600, 2300 RC Leiden. s.a.j.lesnikoberstein@kgc.azl.nl
Bakker
E
E
Ferrari
M D
MD
Haan
J
J
D002544:Cerebral Infarction / Q000209:etiology / Q000235:genetics*; D002888:Chromosomes, Human, Pair 19 / Q000235:genetics; D015161:Dementia, Multi-Infarct / Q000150:complications / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics*; D005799:Genes, Dominant; D006801:Humans; D008279:Magnetic Resonance Imaging; D009131:Muscle, Smooth, Vascular / Q000378:metabolism; D009426:Netherlands / Q000453:epidemiology; D017354:Point Mutation / Q000235:genetics*; D011518:Proto-Oncogene Proteins / Q000235:genetics*; D000071656:Receptor, Notch3; D011956:Receptors, Cell Surface; D051880:Receptors, Notch
C499374:NOTCH3 protein, human; D011518:Proto-Oncogene Proteins; D000071656:Receptor, Notch3; D011956:Receptors, Cell Surface; D051880:Receptors, Notch