Clinical Manifestations
This hallmark involuntary movement causes uncontrolled, dance-like jerking of the arms, legs, face, and tongue.
What is Chorea
Preferentially destroys these neurons of the striatum, which normally modulate movement via the basal ganglia circuit. Their loss is the primary driver of chorea.
What is Medium Spiny Neurons (MSNs)
This is the definitive diagnostic test for this disease, which measures CAG trinucleotide repeat length. A result of 40 or more repeats confirms the diagnosis.
What is Genetic Testing (DNA / PCR-based CAG repeat expansion test)
This FDA-approved class of drugs works by depleting central monoamines (particularly dopamine) via VMAT2 inhibition to reduce the severity of chorea this disease.
What is VMAT2 inhibitors (e.g., tetrabenazine, deutetrabenazine, valbenazine)
This disease was first formally described in 1872 by this American physician, after whom the disease is named. His paper described its hereditary nature and clinical features.
What is George Huntignton
In addition to motor symptoms, patients experience significant decline in this cognitive domain, the ability to focus, plan, organize, and make decisions.
What is Executive Function (Cognitive Impairment/Dementia)
The mutant protein contains an abnormally expanded tract of this amino acid, which causes misfolding and toxic protein aggregation in neurons.
What is Glutamine (polyglutamine / poly-Q expansion)
Individuals with 27–35 repeats will not develop the disease but may pass on to offsprings.
What is Expanded Repeat (Intermediate allele / Intergenerational Instability)
As of today, there are no disease-modifying therapies approved for this disease. All current pharmacological treatments are described by this term, targeting symptoms rather than the disease itself.
What is Symptomatic (palliative) Treatments
This disease follows a type of inheritance pattern that gives each child of an affected parent a 50% chance of inheriting the mutant HTT allele. Only ONE mutant copy is needed to cause the disease.
What is Autosomal Dominant Inheritance
This psychiatric condition, marked by persistent sadness and loss of interest, often appears before motor symptoms.
What is Depression
The mutant form of this disease impairs this essential cellular process by disrupting mitochondrial function, contributing to energy failure and neuronal death.
What is Cellular Energy Metabolism / Oxidative Phosphorylation (mitochondrial dysfunction)
This neuroimaging method is used in this disease’s diagnosis and monitoring; it can reveal characteristic atrophy of the caudate nucleus and enlarged lateral ventricles.
What is MRI (or CT Scan - Brain Imaging)
Disease management requires this type of team-based approach, involving neurologists, psychiatrists, speech-language pathologists, occupational therapists, and genetic counselors.
What is Multidisciplinary Care Team (Interdisciplinary Approach)
The worldwide prevalence of this disease is approximately 5 - 10 cases per 100,000 persons. Prevalence is highest among people of this ancestry, averaging about 7 per 100,000.
What is Western European (European / Caucasian Ancestry)
Because of involuntary muscle movements affecting the mouth and throat, patients frequently develop this dangerous swallowing difficulty that can lead to aspiration pneumonia, a leading cause of death.
What is Dysphagia (difficulty swallowing)
Expressed in peripheral tissues such as adipose and liver causes this notable systemic symptom even when patients eat voraciously.
What is Unexplained Weight Loss (Metabolic Disturbances / Cachexia)
Before genetic testing , diagnosis relied heavily on motor symptoms in a patient with this key element in their medical history.
What is A family history of Untington’s Disease (Autosomal Dominant Inheritance)
This gene-silencing approach, in which synthetic nucleotide sequences delivered to the CNS bind to and degrade mHTT mRNA before it is translated into toxic protein, is in clinical trials for this disease.
What is Antisense Oligonucleotides (ASOs) / HTT-lowering Therapy
The HTT gene mutation was identified in this year, enabling the first genetic test for the disease and transforming diagnosis and predictive testing for at-risk family members.
What is 1993
When this disease manifests before age 20, it is given this special name and typically progresses faster, presenting with rigidity and seizures rather than chorea.
What is Juvenile Huntington's Disease (JHD)
Post-mortem brains of this disease show global atrophy with 29-64% volume reduction in this specific brain structure, the primary site of neurodegeneration, composed of the caudate nucleus and putamen.
What is The Striatum (Basal Ganglia / Neostriatum)
In this genetic phenomenon, the number of CAG repeats increases from one generation to the next, leading to earlier onset and more severe symptoms in offspring.
What is Genetic Anticipation
In a 2025 clinical trial, the gene therapy AMT-130 delivered directly into the brain via surgery showed this remarkable result in patients receiving the high dose after three years.
What is Slower Disease Progression Compared to Untreated Patients
This folk singer, famous for “This Land Is Your Land,” died from complications of the disease. Became one of the most well known faces of the disease, inspiring his family to advocate for its research.
What is Woody Guthrie