|
gptkbp:instanceOf
|
gptkb:genetic_disorder
gptkb:neurodegenerative_disease
|
|
gptkbp:affects
|
gptkb:basal_ganglia
gptkb:cerebral_cortex
|
|
gptkbp:alsoKnownAs
|
gptkb:Huntington's_chorea
|
|
gptkbp:casualties
|
yes
|
|
gptkbp:causedBy
|
mutation in HTT gene
|
|
gptkbp:diagnosedBy
|
genetic testing
|
|
gptkbp:firstDescribed
|
gptkb:George_Huntington
1872
|
|
gptkbp:hasNoCure
|
true
|
|
gptkbp:ICD-10_code
|
G10
|
|
gptkbp:inheritance
|
autosomal dominant
|
|
gptkbp:involvesProtein
|
huntingtin
|
|
gptkbp:juvenileForm
|
yes
|
|
gptkbp:juvenileOnsetAge
|
before 20 years
|
|
gptkbp:juvenileSymptoms
|
bradykinesia
rigidity
seizures
|
|
gptkbp:lifeExpectancyAfterOnset
|
10-30 years
|
|
gptkbp:locatedOnChromosome
|
gptkb:chromosome_4
|
|
gptkbp:MeSH_ID
|
D006816
|
|
gptkbp:mutationAssociatedWith
|
CAG trinucleotide repeat expansion
|
|
gptkbp:OMIM
|
143100
|
|
gptkbp:onset
|
30-50 years
|
|
gptkbp:prevalence
|
3-7 per 100,000 people of European descent
|
|
gptkbp:progression
|
progressive
|
|
gptkbp:researchInterest
|
stem cell therapy
gene silencing
neuroprotective agents
|
|
gptkbp:riskFactor
|
family history
|
|
gptkbp:symptom
|
gptkb:dementia
gptkb:depression
cognitive decline
anxiety
paranoia
sleep disturbances
weight loss
difficulty swallowing
apathy
psychosis
irritability
chorea
impaired coordination
involuntary movements
obsessive-compulsive behaviors
personality changes
psychiatric symptoms
speech difficulties
|
|
gptkbp:treatment
|
symptomatic management
|
|
gptkbp:bfsParent
|
gptkb:Huntington's_disease
|
|
gptkbp:bfsLayer
|
6
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
Huntington disease
|