Cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL)

CADASIL is a chronic cerebrovascular disorder characterized by recurrent ischemic attacks and frequent migraines associated with diffuse white-matter abnormalities. CADASIL is caused by mutations in the NOTCH3 gene.

Developmental disorder; Vascular diseases

NOTCH3 [HSA:4854] [KO:K02599]

PMID:16379592 (description, gene)

Wang QK

Update on the molecular genetics of vascular anomalies.

Lymphat Res Biol 3:226-33 (2005)

PMID:20967782 (description, gene)

Joutel A

Pathogenesis of CADASIL: transgenic and knock-out mice to probe function and dysfunction of the mutated gene, Notch3, in the cerebrovasculature.

Bioessays 33:73-80 (2011)