Cadasil

H Chabriat, A Joutel, M Dichgans… - The Lancet …, 2009 - thelancet.com
H Chabriat, A Joutel, M Dichgans, E Tournier-Lasserve, MG Bousser
The Lancet Neurology, 2009thelancet.com
Cerebral autosomal dominant arteriopathy with subcortical infarcts and
leucoencephalopathy (CADASIL) is the most common heritable cause of stroke and
vascular dementia in adults. Clinical and neuroimaging features resemble those of sporadic
small-artery disease, although patients with CADASIL have an earlier age at onset of stroke
events, an increased frequency of migraine with aura, and a slightly variable pattern of
ischaemic white-matter lesions on brain MRI. NOTCH3 (Notch homolog 3), the gene …
Summary
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL) is the most common heritable cause of stroke and vascular dementia in adults. Clinical and neuroimaging features resemble those of sporadic small-artery disease, although patients with CADASIL have an earlier age at onset of stroke events, an increased frequency of migraine with aura, and a slightly variable pattern of ischaemic white-matter lesions on brain MRI. NOTCH3 (Notch homolog 3), the gene involved in CADASIL, encodes a transmembrane receptor primarily expressed in systemic arterial smooth-muscle cells. Pathogenetic mutations alter the number of cysteine residues in the extracellular domain of NOTCH3, which accumulates in small arteries of affected individuals. Functional and imaging studies in cultured cells, genetically engineered mice, and patients with CADASIL have all provided insights into the molecular and vascular mechanisms underlying this disease. A recent multicentre trial in patients with cognitive impairment emphasises the feasibility of randomised trials in patients with CADASIL. In this Review, we summarise the current understanding of CADASIL, a devastating disorder that also serves as a model for the more common forms of subcortical ischaemic strokes and pure vascular dementia.
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