Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy

URI: https://gptkb.org/entity/Cerebral_Autosomal_Dominant_Arteriopathy_with_Subcortical_Infarcts_and_Leukoencephalopathy
GPTKB entity
Statements (22)
Predicate Object
gptkbp:instanceOf genetic disorder
gptkbp:abbreviation gptkb:CADASIL
gptkbp:affects small blood vessels in the brain
gptkbp:category cerebrovascular disease
hereditary disease
leukoencephalopathy
gptkbp:diagnosedBy genetic testing
MRI brain imaging
gptkbp:firstDescribed 1993
gptkbp:frequency rare
gptkbp:hasNoCure true
https://www.w3.org/2000/01/rdf-schema#label Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy
gptkbp:inheritance autosomal dominant
gptkbp:mutationAssociatedWith gptkb:NOTCH3_gene
gptkbp:OMIM 125310
gptkbp:symptom gptkb:migraine_with_aura
cognitive decline
psychiatric disturbances
recurrent strokes
gptkbp:treatment symptomatic management
gptkbp:bfsParent gptkb:CADASIL
gptkbp:bfsLayer 7