Huntington's disease
Around Lake Maracaibo in Venezuela, Huntington's disease affects up to 700 people in every 100,000. That is far above the worldwide figure of 5 to 10 per 100,000. Huntington's disease is a fatal neurodegenerative illness that is usually inherited. It gradually erodes a person's movement, thinking and mood. Doctors once called it Huntington's chorea, but that name was dropped because not every patient develops the jerky movements it describes. Problems with thinking and behavior make up a large share of the illness too.
The cause is a single faulty gene, and a blood test can reveal who carries it long before a first symptom appears. That fact opens up hard questions. Why do so many people at risk choose never to take the test? What does the damaged protein actually do inside a nerve cell? How did physicians in the nineteenth century, and later a vast family study, assemble the clues? And can anything slow the disease today?
In half of all cases, the first sign of Huntington's disease is psychiatric rather than physical. These changes can come many years before any movement problem. Early on, the signs are easy to dismiss. A person may show subtle personality shifts, irritability, mood swings, or small slips in thinking and physical skill. Symptoms usually become noticeable between the ages of 30 and 50. Doctors describe the illness as a triad of motor, cognitive and psychiatric symptoms.
Chorea is the hallmark movement disorder. The word describes jerky, random and uncontrollable motions that look dance-like. At first it may appear only as restlessness, small motions that are begun or left unfinished, clumsiness, or slowed saccadic eye movements. Many people are unaware of these movements and are not troubled by them. Such minor signs typically come at least three years before clearer motor problems. Later come rigidity, writhing and abnormal posturing. Some people develop dystonia, in which muscles twist or repeat movements in a way that can resemble a tremor. Chewing, swallowing and speaking grow difficult. Weight loss and sleep disturbances often follow.
Executive functions are especially affected as thinking declines toward dementia. These include planning, mental flexibility, abstract thought, learning rules, starting appropriate actions and holding back inappropriate ones. People may struggle to focus, to learn new information, or to notice their own behavior. Memory problems appear as the disease advances. They can touch short-term and long-term memory, as well as episodic, procedural and working memory.
Studies estimate that between 33 and 76 percent of patients experience a psychiatric disorder at some point in life. The list includes anxiety, depression, a flattened display of emotion, aggression, compulsive behavior, hallucination and delusion. For many families these symptoms are the most distressing part of the illness. They are also a common reason for moving someone into institutional care. Early behavioral changes raise the risk of suicide, and many patients have little awareness of their own impairments.
Fewer than one case in ten begins before the age of 20. Juvenile Huntington's disease progresses faster, with greater cognitive decline, and chorea appears only briefly if at all. Instead it usually takes the Westphal form, marked by slowness of movement, rigidity, tremors and often seizures. What separates a teenager who falls ill from a person who never notices symptoms is a number hidden inside a single gene.
On the short arm of chromosome 4, at a position labelled 4p16.3, sits the gene responsible for Huntington's disease. Scientists call it HTT, and older papers called it IT15, short for interesting transcript 15. It carries the instructions for the huntingtin protein. Inside its first exon, the three-letter DNA sequence CAG repeats like a stutter. Each CAG codes for the amino acid glutamine. The finished protein therefore contains a long run of glutamine, known as a polyglutamine tract.
The length of that run sorts people into groups. Fewer than 27 repeats is normal. A count of 27 to 35 is intermediate, and the person will not be affected, though the risk to offspring is elevated. From 36 to 39 repeats, penetrance is reduced, so a person may or may not fall ill. At 40 or more, the disease will appear if the person lives long enough. From 36 repeats upward the protein turns toxic, and beyond 60 symptoms can begin before the age of 20.
Repeat length explains about 60 percent of the variation in when symptoms start and how fast they progress. Environment and other modifying genes account for the rest. In the reduced-penetrance range, onset comes much later and progression is slower. In some carriers symptoms are never noticed at all.
The pattern of inheritance is autosomal dominant. The gene sits on neither the X nor the Y chromosome, so every child of an affected parent has a 50 percent chance of inheriting it, whatever the child's sex. If both parents carry an expanded copy, the risk rises to 75 percent. It reaches 100 percent if either parent has two expanded copies. For a time, doctors believed that a second mutated copy changed nothing about the illness. It has since been found to affect the disease and its rate of progression.
CAG runs longer than about 28 repeats are unstable when DNA is copied. A parent with an intermediate or reduced-penetrance count can therefore pass on a longer one, which produces fully penetrant disease in a child. This is called genetic anticipation, meaning earlier onset and greater severity in each generation. Maternal alleles usually keep a similar length. Paternal alleles are more likely to grow, because mutation is more frequent in sperm cells, so fathers are the likelier source of an expanded copy.
Huntingtin protein interacts with more than 100 other proteins, which hints at how many jobs it performs. It is made in every cell, with the highest concentrations in the brain and testes. Animal studies show it is essential for life. When the gene is missing entirely, the embryo dies. In mature neurons it helps produce brain-derived neurotrophic factor and supports transport at the synapses. It also blocks enzymes called caspases, which trigger programmed cell death.
The mutant form interferes with the ubiquitin-proteasome system, which in turn promotes caspase activation. Raising the amount of normal huntingtin protects brain cells, and lowering it worsens the damage. Researchers therefore conclude that the disease comes from a toxic gain of function, not from too little protein. The mutant protein is made throughout the body. It is linked to muscle atrophy, cardiac failure, impaired glucose tolerance, weight loss, osteoporosis and testicular atrophy.
In its mutant form, the protein is more prone to being cut into shorter fragments that carry the glutamine stretch. These fragments misfold and clump into fibrous aggregates. The aggregates share the cross-beta amyloid architecture seen in other protein deposition diseases. They build into inclusion bodies in both the nucleus and the cytoplasm, and these are among the earliest changes in brain cells. Experiments disagree about whether the clumps poison a cell or form part of a defense that protects it.
Several routes to cell death have been identified. They involve chaperone proteins, which fold and clear faulty proteins, as well as caspases, the toxic effects of glutamine, impaired energy production and altered gene expression. Mutant huntingtin also disrupts the mitochondria, which raises oxidative stress. Glutamine is not in excess in the disease. The altered protein simply makes neurons vulnerable to normal levels of it. A coregulator called CBP, which switches on survival genes and binds to huntingtin, is sharply reduced in the brains of people who had the disease. Boosting CBP lessens polyglutamine-induced death.
In 2025, scientists affiliated with Harvard and MIT published a study on what sets off symptoms. They found that the repeat grows with age because of accumulated errors in DNA mismatch repair after transcription. Over decades the repeat creeps up to about 80 copies, and then the process accelerates. It reaches 150 copies within years. Below 150, the cell shows no significant toxic effect. Beyond it, many genes become dysregulated, and over months a medium spiny neuron loses its identity until cell death pathways switch on.
The damage follows a map. The dorsal striatum, within the subcortical basal ganglia, is hit first, and the cortex follows in all areas. The substantia nigra, hippocampus, cerebellar Purkinje cells, parts of the hypothalamus and parts of the thalamus are also involved. Medium spiny neurons are the most vulnerable. The disease also increases the number of astrocytes and activates microglia, the brain's immune cells.
The basal ganglia normally act as a brake. They suppress a large number of circuits that each produce a specific movement. To start a movement, the cerebral cortex signals the basal ganglia to release that inhibition. When these structures are damaged, the release becomes erratic. Movements begin awkwardly, start unintentionally, or stop before or beyond their intended end. That is chorea. The same loss of control inevitably reduces the ability to speak and to swallow food and liquids.
Since 1986, people at risk of Huntington's disease have been able to learn whether they carry the gene. The first method was linkage analysis, which needed samples from several relatives. Since 1993, direct mutation analysis has made the question simpler. A blood test counts the CAG repeats in each copy of HTT. A result of 40 or more is called positive, but it is not a diagnosis, because symptoms may be decades away. A negative result means the person will not develop the disease. For someone who began with a 50 percent chance, the test moves the risk either to 100 percent or to zero.
When testing first became possible, surveys suggested that 50 to 70 percent of at-risk people wanted it. In practice, over 95 percent do not proceed, mostly because nothing can yet be done about a positive result. One study from 2007 put the share who chose testing at only 5 percent. Whatever the result, stress levels are lower two years after being tested, but the risk of suicide rises after a positive result. People who learn they did not inherit the gene may feel survivor guilt toward affected relatives. In one study, genetic discrimination was reported by 46 percent of at-risk people, more often in personal relationships than in insurance or employment.
Patients who want testing must complete three counseling sessions. These guidelines have become models for other genetic disorders, including autosomal dominant cerebellar ataxia. Presymptomatic testing here has also influenced testing for polycystic kidney disease, familial Alzheimer's disease and breast cancer.
Couples have other options. With in vitro fertilization, doctors can remove one or two cells from an embryo of four to eight cells and test them. Embryos carrying the gene are then not implanted. Exclusion and nondisclosure testing let at-risk people have children free of the gene without learning their own status. Exclusion testing compares the embryo's DNA with that of the parents and grandparents, to avoid the chromosomal region from the affected grandparent. Prenatal testing is also possible, through chorionic villus sampling or, within 14 to 18 weeks, amniocentesis. Where the father is affected, a blood sample from the mother between six and 12 weeks can be analysed for cell-free fetal DNA, with no procedure-related risk of miscarriage.
Each option carries ethical debate. Most guidelines accept testing only for people judged cognitively mature, although some argue that parents have the right to decide for a child. Prenatal testing raises the issue of selective abortion, which some find unacceptable. In the United Kingdom, insurers agreed with the Department of Health and Social Care that until 2017 customers would not need to disclose predictive genetic tests. That agreement explicitly excluded the Huntington's test for high-value policies.
Diagnosis in the clinic often begins with abrupt involuntary movements of random timing. The unified Huntington's disease rating scale measures progression across motor, behavioral, cognitive and functional assessments. A CT or MRI scan can show shrinkage of the caudate nuclei early on, but that alone does not confirm the disease. About 99 percent of diagnoses based on typical symptoms and family history are confirmed by the genetic test. The rest are HD-like syndromes, linked to the prion protein gene, the junctophilin 3 gene, and in the case of HDL3, a gene found in only two families and poorly understood.
In 2008, tetrabenazine became the first treatment approved in the United States for Huntington's disease. The European Union had approved it for chorea eight years earlier, in 2000. The compound itself has been known since the 1950s. Deutetrabenazine, a heavier form sold as Austedo, won FDA approval in 2017. Valbenazine, sold as Ingrezza, followed in 2023. All three block vesicular monoamine transporter 2, which depletes dopamine in the brain and lessens involuntary movements. They are the only drugs approved specifically for the chorea of this disease. No cure is known.
Other medicines fill gaps. Antipsychotics and benzodiazepines can reduce chorea. Antiparkinsonian drugs help with slowness and rigidity, especially in juvenile cases, and valproic acid can treat myoclonic jerks. Tentative evidence suggests ethyl eicosapentaenoic acid improves motor symptoms at one year. Amantadine has also been used, though evidence for its safety and efficacy is limited. For depression, selective serotonin reuptake inhibitors and mirtazapine are recommended. Atypical antipsychotics are advised for psychosis and behavioral problems. Because some people need several drugs over a long period, specialist neuropsychiatric input is recommended.
Plant-based remedies explored in ayurvedic medicine have produced no good evidence of benefit. One recent study found that stromal processing peptidase, an enzyme from plant chloroplasts, prevented the clumping of proteins linked to the disease. Repeat studies and clinical validation are still needed.
Everyday care matters as much as drugs. Weight loss and eating problems are common, so nutrition becomes a priority. Thickening agents make liquids easier and safer to swallow, and reminders to eat slowly and take small bites help prevent choking. If eating becomes too hazardous, a percutaneous endoscopic gastrostomy tube can be placed through the abdomen into the stomach. Speech-language pathologists with experience of the disease are recommended. Physical therapists assess fall risk and prescribe strengthening, stretching and cardiovascular exercise. They may also supply walking aids, breathing exercises and airway clearance techniques. The European HD Network has produced consensus guidelines on physiotherapy. Early rehabilitation aims to prevent loss of function, while late-stage rehabilitation aims to compensate for it. Palliative care can also ease symptoms and psychological stress.
Life expectancy is generally 15 to 20 years from the first visible symptoms. In juvenile disease it is about 10 years. Mean lifespan is around 58-63 years, though it varies considerably between studies. Pneumonia is the largest risk and causes death in one third of patients, because weakened coordination makes it hard to clear the lungs and easy to aspirate food or drink. Heart disease causes almost a quarter of deaths. Suicide is the third greatest cause, with 7.3 percent of patients taking their own lives and up to 27 percent attempting it. Choking, falls and malnutrition add further risks. Suicide risk is highest before diagnosis and in the middle stages of the illness.
Saint Vitus' dance was one of the names once given to chorea, with little understanding of its cause. The first definite mention of Huntington's disease came in the early 1840s, in a letter by the American physician Charles Oscar Waters. It appeared in the first edition of Robley Dunglison's Practice of Medicine. Waters wrote of "a form of chorea, vulgarly called magrums" and accurately described its progression and strong heredity. In 1846, Charles Rollin Gorman, another of Dunglison's students at Jefferson Medical College in Philadelphia, noticed that the disease clustered in certain regions. In 1860, another observer working independently described a secluded mountain valley in Norway called Setesdalen. There, dementia and jerking movement disorders ran in families.
The first thorough description came from the American physician George Huntington in 1872. He examined the medical history of several generations of one family with similar symptoms and realized their conditions must be linked. His definition of the disease became his first paper. He described the pattern of an autosomal dominant disorder years before scientists rediscovered Mendelian inheritance. Of children who escape the disease, he wrote that "the thread is broken and the grandchildren and great-grandchildren of the original shakers may rest assured that they are free from the disease."
Sir William Osler took a keen interest in chorea and admired the paper. He said, "In the history of medicine, there are few instances in which a disease has been more accurately, more graphically or more briefly described." Osler's influence helped news of the disorder travel quickly through the medical world. European scientists including Louis Théophile Joseph Landouzy, Désiré-Magloire Bourneville, Camillo Golgi and Joseph Jules Dejerine showed great interest. By the end of the nineteenth century, the disease had been reported in many countries and was recognized as a worldwide condition.
At the turn of the twentieth century, the English biologist William Bateson used the pedigrees of affected families to show that the disease was autosomal dominant. In New York, Smith Ely Jelliffe gathered family information and published on the genealogy of the disease in New England. His college friend Charles Davenport then commissioned Elizabeth Muncey to carry out the first field study of affected families on the East Coast of the United States. In 1932, P. R. Vessie popularized the idea that three brothers who left England in 1630 bound for Boston were the source of the disease in the United States. The eugenic bias in this work helped spread misunderstanding and prejudice. In 1910, Davenport had proposed compulsory sterilization and immigration control for people with certain diseases, including this one.
Muncey and Davenport also popularized the idea that people with the disease were once taken for victims of witchcraft or possession and were shunned or exiled. Science has never proven this. Researchers have found contrary evidence, since the community of the family George Huntington studied openly accommodated those who showed symptoms.
In 1968, Milton Wexler, a psychoanalyst in Los Angeles, founded the Hereditary Disease Foundation after his wife, Leonore Sabin, was diagnosed with Huntington's disease. Her three brothers also had it. His daughter Nancy Wexler became a key member of the research team in Venezuela. At about the same time, Marjorie Guthrie helped found the committee to Combat Huntington's Disease, now the Huntington's Disease Society of America, after her husband, the folk singer-songwriter Woody Guthrie, died of complications of the disease. Support groups have since formed in many countries. The US Senate designated the 6th of June as National Huntington's Disease Awareness Day. The largest research funder is the CHDI Foundation, formerly the High Q Foundation, which spent $50 million on the disease in 2006.
Geography shaped the hunt for the gene. Prevalence averages around seven per 100,000 among people of Western European descent, and about one per million among people of Asian and African descent. A 2013 study found an average of 12.3 per 100,000 across the United Kingdom between 1990 and 2010. Tasmania and parts of Scotland, Wales and Sweden have pockets of far higher prevalence. These usually come from a founder effect, in which carriers migrated into an isolated area, and some have been traced back hundreds of years. Iceland has a low rate of 1 per 100,000. All its cases but one, going back nearly two centuries, descend from a couple who lived early in the nineteenth century. Finland's rate is only 2.2 per 100,000.
From 1979, over a period of ten years, the Hereditary Disease Foundation recruited more than 100 scientists to the US-Venezuela Huntington's Disease Collaborative Project. The team studied two isolated Venezuelan villages, Barranquitas and Lagunetas, and more than 18,000 people, mostly from a single extended family. In 1983 a causal gene was roughly located, and in 1993 it was pinpointed at chromosome 4. It was the first disease gene on a non-sex chromosome found by genetic linkage analysis. The project also developed DNA-marking methods that were an important step toward the Human Genome Project. Anita Harding's research group meanwhile showed how the length of the gene affects the disease.
The care networks built in Venezuela and Colombia during the research of the 1970s through the 2000s later eroded. Causes included the ongoing crisis in Venezuela and the death of a lead researcher in Colombia, Jorge Daza Barriga. Doctors are working to rekindle those networks, because the participants in these studies deserve proper follow-up care.
The gene made new research tools possible. A transgenic mouse developed in 1996 allowed larger experiments, since mice live fast and results arrive sooner. The 1997 discovery that fragments of the mutant protein misfold led to the discovery of nuclear inclusions. Animal models now include roundworms, fruit flies, mice, rats, sheep, pigs and monkeys. Researchers pursue three broad strategies: lowering the mutant protein, improving neuron survival, and replacing lost neurons with stem cells. In 2020, 197 clinical trials of therapies and biomarkers were underway, recruiting or newly completed. Remacemide, coenzyme Q10, riluzole, creatine, minocycline, ethyl-EPA, phenylbutyrate and dimebon all failed to slow the disease.
Gene silencing aims to cut production of the mutant protein. The first human trial began in 2015, testing the safety of IONIS-HTTRx, made by Ionis Pharmaceuticals and led by UCL Institute of Neurology. That year, mutant huntingtin was also measured for the first time in the spinal fluid of carriers. A phase 3 trial of the compound, renamed tominersen and sponsored by Roche, began in 2019. It was halted in 2021 after a safety monitoring board judged the balance of risk and benefit unfavourable. A gene therapy trial by the Dutch company uniQure also began in 2019. The splicing modulator votoplam had completed a Phase 2 trial by 2025.
In 2025, researchers at University College London reported preliminary results from AMT-130, a uniQure gene therapy. It showed a 75 percent slowing of disease progression over three years. The therapy uses a viral vector carrying an artificial micro-RNA to lower huntingtin production. It is delivered into the caudate nucleus and putamen by MRI-guided neurosurgery. The full study data had not yet been peer-reviewed or published when that figure was reported.
Updated
Common questions
What causes Huntington's disease?
Huntington's disease is caused by an expanded run of CAG repeats in the HTT gene on chromosome 4, at 4p16.3. A count of 36 or more repeats produces a toxic mutant huntingtin protein, and 40 or more means the disease will appear if the person lives long enough.
How is Huntington's disease inherited?
Huntington's disease is autosomal dominant, so each child of an affected parent has a 50 percent chance of inheriting it. The gene is on neither the X nor the Y chromosome, so the risk is the same for sons and daughters.
What are the first symptoms of Huntington's disease?
In half of all cases, the first symptoms of Huntington's disease are psychiatric, such as mood swings, irritability and subtle personality changes. Motor signs like restlessness, clumsiness and chorea often follow, and symptoms usually become noticeable between the ages of 30 and 50.
Who discovered Huntington's disease?
The American physician George Huntington gave the first thorough description of Huntington's disease in 1872. Charles Oscar Waters had written the earliest definite mention in a letter published in the early 1840s, and the gene was located in 1993.
How long do people live with Huntington's disease?
Life expectancy in Huntington's disease is generally 15 to 20 years from the first visible symptoms, and about 10 years in juvenile cases. Pneumonia is the largest cause of death, accounting for one third of patients.
Is there a cure for Huntington's disease?
No cure for Huntington's disease is known. Tetrabenazine, deutetrabenazine and valbenazine are approved to treat chorea, and gene therapy trials such as AMT-130 are testing ways to lower huntingtin production.
All sources
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- 137NewsSought Out by Science, and Then ForgottenSmith JE, Cordero C — 2023-05-23
- 138What is HD?
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- 144Press releaseInsurance Genetics Moratorium extended to 2017Association of British Insurers — 5 April 2011
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- 149The International Huntington AssociationInternational Huntington Association — 2013
- 150US Senate s. resolution 531US Senate — 6 April 2008
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- 160JournalThe importance of integrating basic and clinical research toward the development of new therapies for Huntington diseaseMunoz-Sanjuan I, Bates GP — February 2011
- 161JournalPreclinical safety of RNAi-mediated HTT suppression in the rhesus macaque as a potential therapy for Huntington's diseaseMcBride JL, Pitzer MR, Boudreau RL, Dufour B, Hobbs T, Ojeda SR, Davidson BL — December 2011
- 162JournalSustained therapeutic reversal of Huntington's disease by transient repression of huntingtin synthesisKordasiewicz HB, Stanek LM, Wancewicz EV, Mazur C, McAlonis MM, Pytel KA, Artates JW, Weiss A, Cheng SH, Shihabuddin LS, Hung G, Bennett CF, Cleveland DW — June 2012
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- 164NewsLandmark Huntington's trial startsJames Gallagher — 19 October 2015
- 166JournalQuantification of mutant huntingtin protein in cerebrospinal fluid from Huntington's disease patientsWild EJ, Boggio R, Langbehn D, Robertson N, Haider S, Miller JR, Zetterberg H, Leavitt BR, Kuhn R, Tabrizi SJ, Macdonald D, Weiss A — May 2015
- 167JournalHuntington disease: cerebrospinal fluid and MRI biomarkers for prodromal HDChase A — May 2015
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- 169JournalGenetic therapies offer new hope against incurable brain diseasesKwon D — 2021-04-06
- 170Huntington's disease clinical trial round upHarding R — 26 April 2021
- 171Press releasePTC518 PIVOT-HD Study Achieves Primary EndpointPTC Therapeutics — May 5, 2025
- 172JournalSmall molecule splicing modifiers with systemic HTT-lowering activityAnuradha Bhattacharyya et al. — 2021-12-15
- 174JournalHuntington's disease: new gene therapy explainedYemisi Bokinni — 26 September 2025
- 175Gene therapy appears to slow Huntington's disease progressionUCL — 2025-09-24
- 176Huntington's disease successfully treated for first timeJames Gallagher — 2025-09-24
- 178New Gene Therapy for Huntington's Shows 75% Decrease in Disease ProgressionSusan Kreimer — 2025-10-22
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- 181JournalInhibition of mTOR induces autophagy and reduces toxicity of polyglutamine expansions in fly and mouse models of Huntington diseaseRavikumar B, Vacher C, Berger Z, Davies JE, Luo S, Oroz LG, Scaravilli F, Easton DF, Duden R, O'Kane CJ, Rubinsztein DC — June 2004
- 182JournalTherapeutic effects of stem cells in rodent models of Huntington's disease: Review and electrophysiological findingsHolley SM, Kamdjou T, Reidling JC, Fury B, Coleal-Bergum D, Bauer G, Thompson LM, Levine MS, Cepeda C — Wiley — April 2018
- 183JournalImpact of induced pluripotent stem cells on the study of central nervous system diseaseCundiff PE, Anderson SA — June 2011
- 184JournalFerroptosis: A Regulated Cell Death Nexus Linking Metabolism, Redox Biology, and DiseaseStockwell BR, Friedmann Angeli JP, Bayir H, Bush AI, Conrad M, Dixon SJ, Fulda S, Gascón S, Hatzios SK, Kagan VE, Noel K, Jiang X, Linkermann A, Murphy ME, Overholtzer M, Oyagi A, Pagnussat GC, Park J, Ran Q, Rosenfeld CS, Salnikow K, Tang D, Torti FM, Torti SV, Toyokuni S, Woerpel KA, Zhang DD — October 2017
- 186Completed Clinical TrialsHuntington Study Group