Huntington's chorea

E197487

autosomal dominant disease hereditary disease movement disorder neurodegenerative disease rare disease

Huntington's chorea is a hereditary neurodegenerative disorder characterized by progressive motor dysfunction, cognitive decline, and psychiatric symptoms, typically manifesting in mid-adulthood.

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All labels observed (7)

Label	Occurrences
Huntington's disease	7
Huntington disease	1
Huntington's Disease Collaborative Research Group	1
Huntington's chorea canonical	1
Huntington’s chorea	1
On Chorea	1
juvenile-onset Huntington's disease	1

How this entity was disambiguated

This entity first appeared as the object of triple T1766659 — resolving that mention is where its identity was fixed. The disambiguator weighed these candidate entities and picked the highlighted one (or “None”, minting a new entity). This is how homonymy is resolved: the same surface form can point to different entities.

NED1 Entity disambiguation (via context triple) gpt-5-mini-2025-08-07

Target entity: Huntington's chorea
Context triple: [Law for the Prevention of Hereditarily Diseased Offspring, targetedCondition, Huntington's chorea]

A. Parkinson's disease
Parkinson's disease is a progressive neurodegenerative disorder characterized primarily by motor symptoms such as tremors, rigidity, and slowed movement, caused by the loss of dopamine-producing neurons in the brain.
B. ALS
ALS (amyotrophic lateral sclerosis) is a progressive neurodegenerative disease that affects nerve cells in the brain and spinal cord, leading to muscle weakness, paralysis, and ultimately respiratory failure.
C. Alzheimer's disease
Alzheimer's disease is a progressive neurodegenerative disorder characterized by memory loss, cognitive decline, and behavioral changes, and is the most common cause of dementia in older adults.
D. spinal muscular atrophy
Spinal muscular atrophy is a genetic neuromuscular disorder characterized by progressive muscle weakness and atrophy due to degeneration of motor neurons in the spinal cord.
E. MCI-Shirley
MCI-Shirley is a medium- and minimum-security state prison for men located in Shirley, Massachusetts.
F. None of above. chosen
G. Unsure - the case is ambiguous/there is not enough information to decide.

NED2 Entity disambiguation (via description) gpt-5-mini-2025-08-07

Target entity: Huntington's chorea
Target entity description: Huntington's chorea is a hereditary neurodegenerative disorder characterized by progressive motor dysfunction, cognitive decline, and psychiatric symptoms, typically manifesting in mid-adulthood.

A. Parkinson's disease
Parkinson's disease is a progressive neurodegenerative disorder characterized primarily by motor symptoms such as tremors, rigidity, and slowed movement, caused by the loss of dopamine-producing neurons in the brain.
B. ALS
ALS (amyotrophic lateral sclerosis) is a progressive neurodegenerative disease that affects nerve cells in the brain and spinal cord, leading to muscle weakness, paralysis, and ultimately respiratory failure.
C. Alzheimer's disease
Alzheimer's disease is a progressive neurodegenerative disorder characterized by memory loss, cognitive decline, and behavioral changes, and is the most common cause of dementia in older adults.
D. spinal muscular atrophy
Spinal muscular atrophy is a genetic neuromuscular disorder characterized by progressive muscle weakness and atrophy due to degeneration of motor neurons in the spinal cord.
E. MCI-Shirley
MCI-Shirley is a medium- and minimum-security state prison for men located in Shirley, Massachusetts.
F. None of above. chosen

Statements (63)

Predicate	Object
instanceOf	autosomal dominant disease ⓘ hereditary disease ⓘ movement disorder ⓘ neurodegenerative disease ⓘ rare disease ⓘ
anticipationMorePronouncedWith	paternal transmission ⓘ
chromosomalLocationOfGene	4p16.3 ⓘ
encodesMutantProtein	mutant huntingtin protein ⓘ
hasCause	CAG trinucleotide repeat expansion in HTT gene ⓘ
hasClinicalCourse	progressive ⓘ
hasComplication	aspiration pneumonia ⓘ falls ⓘ malnutrition ⓘ suicide risk ⓘ
hasDiagnosticCriterion	CAG repeat expansion above normal threshold ⓘ
hasDiagnosticTest	genetic testing for HTT CAG repeat length ⓘ
hasEpidemiology	more common in populations of European descent ⓘ
hasGeneticBasisIn	HTT gene ⓘ
hasJuvenileForm	juvenile Huntington's disease ⓘ
hasManagement	multidisciplinary care ⓘ
hasModeOfTransmission	vertical transmission from affected parent ⓘ
hasOnset	typically in mid-adulthood ⓘ
hasPathology	neurodegeneration of caudate nucleus ⓘ neurodegeneration of striatum ⓘ neuronal loss in putamen ⓘ
hasPathophysiology	toxic gain-of-function of mutant huntingtin protein ⓘ
hasPenetrance	high penetrance for pathogenic CAG expansions ⓘ
hasPrevalence	approximately 5 to 10 per 100,000 in Western populations ⓘ
hasPrognosis	progressive functional decline ⓘ reduced life expectancy ⓘ
hasRiskFactor	having a parent with Huntington's disease ⓘ
hasSymptom	anxiety ⓘ apathy ⓘ bradykinesia ⓘ chorea ⓘ cognitive decline ⓘ depression ⓘ dysarthria ⓘ dysphagia ⓘ dystonia ⓘ executive dysfunction ⓘ gait disturbance ⓘ involuntary jerky movements ⓘ irritability ⓘ memory impairment ⓘ motor incoordination ⓘ obsessive-compulsive symptoms ⓘ psychiatric symptoms ⓘ psychosis ⓘ
hasSynonym	HD ⓘ Huntington's disease ⓘ linked to: Huntington's chorea
hasTreatment	antidepressants for mood symptoms ⓘ antipsychotic medications for behavioral symptoms ⓘ deutetrabenazine for chorea ⓘ symptomatic treatment only ⓘ tetrabenazine for chorea ⓘ
hasTypicalAgeOfOnset	30 to 50 years ⓘ
inheritancePattern	autosomal dominant ⓘ
isPreventableBy	no known primary prevention ⓘ
juvenileFormFeatures	rigidity and seizures more prominent ⓘ
namedAfter	George Huntington ⓘ
showsPhenomenon	anticipation ⓘ
typicalLifeExpectancyAfterOnset	about 15 to 20 years ⓘ

How these facts were elicited