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 (21)
Predicate Object
gptkbp:instanceOf gptkb:genetic_disorder
gptkbp:abbreviation gptkb:CADASIL
gptkbp:affects small blood vessels in the brain
gptkbp:category gptkb:leukoencephalopathy
cerebrovascular disease
gptkbp:diagnosedBy genetic testing
MRI brain imaging
gptkbp:firstDescribed 1993
gptkbp:frequency rare
gptkbp:hasNoCure true
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:Notch3
gptkbp:bfsLayer 8
https://www.w3.org/2000/01/rdf-schema#label cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy