" /> Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 - CISMeF





Preferred Label : Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1;

Symbol : CADASIL1;

CISMeF acronym : CADASIL; CADASIL1; CASIL;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Dementia, hereditary multiinfarct type; CASIL; CADASIL;

Description : Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is an autosomal dominant progressive disorder of the small arterial vessels of the brain manifest by migraine, strokes, and white matter lesions, with resultant cognitive impairment in some patients (review by Kalimo et al., 1999).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutations in the homolog of the Drosophila Notch 3 gene (NOTCH3, 600276.0001).;

Prefixed ID : #125310;

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29/07/2025


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