[Cerebral autosomal dominant arteriolopathy with subcortical infarcts and leucoencephalopathy].
Cerebral Autosomal Dominant Arteriolopathy with Subcortical Infarcts and Leucoencephalopathy (CADASIL) is a recently but increasingly recognized cause of migraine with aura, early and recurrent strokes, and dementia, with an autosomal pattern of transmission. The disease is a widespread vasculopathy, but it is clinically expressed in the CNS only. Cerebral MRI is always abnormal in symptomatic patients, and sometimes in asymptomatic but affected individuals. It shows more or less confluent hypersignals on T2-weighted and flair images. A spectrum of mutations in the Notch3 gene on chromosome 19 are responsible for the disease. There is no specific treatment and the prognosis is poor. We followed three patients from 2 families with genetically confirmed CADASIL and we present their clinical characteristics. We discuss current data on this rare, but non exceptional arteriolopathy.
Bruls
E
E
CHU Sart Tilman, Liège, Belgique.
Moonen
G
G
Sadzot
B
B
D001921:Brain / Q000473:pathology*; D046589:CADASIL / Q000175:diagnosis* / Q000235:genetics* / Q000473:pathology; D002539:Cerebral Arterial Diseases / Q000175:diagnosis / Q000235:genetics; D002544:Cerebral Infarction / Q000235:genetics / Q000473:pathology; D002888:Chromosomes, Human, Pair 19 / Q000235:genetics*; D005260:Female; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D008881:Migraine Disorders / Q000235:genetics; D020125:Mutation, Missense; D010375:Pedigree; D011379:Prognosis; D011518:Proto-Oncogene Proteins / Q000235:genetics; D000071656:Receptor, Notch3; D051880:Receptors, Notch
C499374:NOTCH3 protein, human; D011518:Proto-Oncogene Proteins; D000071656:Receptor, Notch3; D051880:Receptors, Notch