|
gptkbp:instanceOf
|
genetic disorder
|
|
gptkbp:affects
|
small blood vessels in the brain
|
|
gptkbp:category
|
cerebrovascular disease
neurological disorder
|
|
gptkbp:complication
|
vascular dementia
disability
|
|
gptkbp:diagnosedBy
|
genetic testing
MRI brain imaging
|
|
gptkbp:firstDescribed
|
gptkb:Marie-Germaine_Bousser
1993
|
|
gptkbp:frequencyOfMigraine
|
common in early stages
|
|
gptkbp:fullName
|
gptkb:Cerebral_Autosomal_Dominant_Arteriopathy_with_Subcortical_Infarcts_and_Leukoencephalopathy
|
|
gptkbp:hasBiomarker
|
granular osmiophilic material in vessel walls
|
|
gptkbp:hasNoCure
|
true
|
|
gptkbp:hasOrphanetID
|
ORPHA636
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
CADASIL
|
|
gptkbp:inheritance
|
autosomal dominant
|
|
gptkbp:MRICharacteristic
|
gptkb:white_matter_hyperintensities
lacunar infarcts
|
|
gptkbp:mutationAssociatedWith
|
gptkb:NOTCH3_gene
|
|
gptkbp:OMIM
|
125310
|
|
gptkbp:onset
|
adulthood
|
|
gptkbp:prevalence
|
rare
|
|
gptkbp:progression
|
gradual worsening
|
|
gptkbp:relatedTo
|
stroke
vascular cognitive impairment
|
|
gptkbp:riskFactor
|
family history
|
|
gptkbp:symptom
|
gptkb:migraine_with_aura
cognitive decline
psychiatric disturbances
recurrent strokes
|
|
gptkbp:treatment
|
symptomatic management
|
|
gptkbp:bfsParent
|
gptkb:19p13.3
gptkb:chromosome_19
|
|
gptkbp:bfsLayer
|
6
|