[CADASIL (cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy): clinical features and neuroimaging].
Recently identified in a french family, CADASIL (Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy) is a generalised disease of small arteries, largely predominating in the brain. Its clinical manifestations start during mid-adulthood and include recurrent ischaemic subcortical events, attacks of migraine with aura, severe mood disorders, subcortical dementia, and, at magnetic resonance imaging, widespread leuko-encephalopathy. There is so far no specific treatment and the mean duration of the disease is 20 years. CADASIL is most frequently a familial disorder with an autosomal dominant mode of transmission. Its responsible gene, Notch 3, is located on Chromosome 19. By the identification of its gene, CADASIL, (which is now known to affect over 400 families worldwide) is a unique variety of cerebro-vascular disease, affecting mainly the subcortical white matter.
Chabriat
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H
Service de Neurologie, Hôpital Lariboisière, 2, rue Ambroise Paré-75010 Paris.
Joutel
A
A
Vahedi
K
K
Iba-Zizen
M T
MT
Tournier-Lasserve
E
E
Bousser
M G
MG
D015161:Dementia, Multi-Infarct / Q000175:diagnosis*; D006801:Humans