Huntington’s Disease

Disease Overview

Huntington’s disease is a genetic, progressive, neurodegenerative disorder characterized by the gradual development of involuntary muscle movements affecting the hands, feet, face, and trunk and progressive deterioration of cognitive processes and memory (dementia). Neurologic movement abnormalities may include uncontrolled, irregular, rapid, jerky movements (chorea) and athetosis, a condition characterized by relatively slow, writhing involuntary movements. Dementia is typically associated with progressive disorientation and confusion, personality disintegration, impairment of memory control, restlessness, agitation, and other symptoms and findings. In individuals with the disorder, disease duration may range from approximately 10 years up to 25 years or more. Life-threatening complications may result from pneumonia or other infections, injuries related to falls, or other associated developments.

Huntington’s disease is transmitted as an autosomal dominant trait. The disease results from changes (mutations) of a gene known as “huntington” located on the short arm (p) of chromosome 4 (4p16.3). In those with the disorder, the huntington gene contains errors in the coded “building blocks” (nucleotide bases) that make up the gene’s instructions. The gene contains abnormally long repeats of coded instructions consisting of the basic chemicals cytosine, adenine, and guanine (CAG trinucleotide repeat expansion). The length of the expanded repeats may affect the age at symptom onset. The specific symptoms and physical features associated with Huntington’s disease result from degeneration of nerve cells (neurons) within certain areas of the brain (e.g., basal ganglia, cerebral cortex).

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Synonyms

• Chronic Progressive Chorea
• Degenerative Chorea
• HD
• Hereditary Chorea
• Hereditary Chronic Progressive Chorea
• Huntington's Chorea
• VEOHD
• Very Early Onset Huntington's Disease
• Woody Guthrie's Disease

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Signs & Symptoms

Huntington’s disease is characterized by rapid uncontrollable muscle movements such as tics or muscle jerks (choreiform movements or chorea). This disorder causes a loss of coordination and personality changes. As the disease progresses, the ability to speak may be impaired, memory may fade, and the involuntary jerky muscle movements (chorea) become more severe.

Huntington’s disease runs a ten to 25 year progressive course. As the disorder progresses, the chorea may subside and there may be an absence of movement (akinesia). Dementia gradually develops. Patients with Huntington’s disease are at high risk of developing pneumonia as a result of being bedridden and undernourished.

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Causes

Huntington’s disease is inherited as an autosomal dominant trait. Human traits, including the classic genetic diseases, are the product of the interaction of two genes, one received from the father and one from the mother.

In dominant disorders, a single copy of the disease gene (received from either the mother or father) will be expressed “dominating” the other normal gene and resulting in the appearance of the disease. The risk of transmitting the disorder from affected parent to offspring is 50 percent for each pregnancy regardless of the sex of the resulting child.

Huntington’s disease is caused by changes (mutations) of a gene that is located on the short arm (p) of chromosome 4 (4p16.3). Chromosomes are found in the nucleus of all body cells. They carry the genetic characteristics of each individual. Pairs of human chromosomes are numbered from 1 through 22, with an unequal 23rd pair of X and Y chromosomes for males and two X chromosomes for females. Each chromosome has a short arm designated as “p” and a long arm identified by the letter “q.” Chromosomes are further subdivided into bands that are numbered.

Known as huntingtin, the gene controls the production of a protein found in nerve cells (neurons) throughout the brain. However, the specific function of the huntingtin protein is not known. In individuals with the disorder, the huntingtin gene contains errors in the coded “building blocks” that make up its specific genetic instructions. The instructions within every gene consist of different arrangements of four basic chemicals (nucleotide bases) called adenine (A), cytosine (C), guanine (G), and thymine (T). In those with Huntington’s Disease, the huntingtin gene contains abnormally long repeats of coded instructions consisting of cytosine, adenine, and guanine (CAG trinucleotide repeat expansion). For example, individuals with the disease have over 35 CAG repeats within the huntingtin gene, with most having more than 39. However, individuals without the disorder tend to have about 20 repeats in the gene. Expanded CAG repeats are unstable and may expand further over time and with successive generations. This is thought to be responsible for genetic anticipation, a phenomenon in which an individual with Huntington’s disease may have symptom onset at a significantly earlier age than his or her affected parent. In addition, some researchers suggest that expanded CAG repeats of the huntingtin gene may become more unstable when the gene is transmitted from the father.

The specific symptoms associated with Huntington’s disease are caused by degenerative changes of nerve cells (neurons) within certain regions of the brain, including the basal ganglia and cerebral cortex. The basal ganglia are specialized nerve cells deep within the brain that play a role in regulating movements. The cerebral cortex, the outer region of the brain, is responsible for conscious thought and movement.

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Affected populations

About 30,000 people in the United States have Huntington’s disease and another 200,000 are at risk of developing the condition. Symptoms commonly develop between ages 30 and 50. The disease progresses slowly and a person may live for another 15-20 years after the onset of symptoms.

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Disorders with Similar Symptoms

Symptoms of the following disorders can be similar to those of Huntington’s disease. Comparisons may be useful for a differential diagnosis:

Hallervorden-Spatz disease is a rare progressive disorder that affects muscle movement. It is associated with the degeneration of the nervous system. Hallervorden-Spatz Disease is characterized by uncontrolled muscle movements (dystonia), muscular rigidity, and the loss of cognitive abilities (dementia). The symptoms of this disease typically begin during childhood, although occasionally the disease begins in adulthood. Approximately one-third of people with Hallervorden-Spatz disease experience sudden jerky muscle movements. Other less frequent symptoms may include joint pain (dysarthria), mental retardation, facial grimacing, impaired speech (dysphasia), and impaired vision. (For more information on this disorder, choose “Hallervorden-Spatz” as your search term in the Rare Disease Database.)

Multiple system atrophy (MSA) is a group of rare inherited disorders that are characterized by the progressive degeneration of the cerebellar cortex and other brain tissue. Several different types of multiple system atrophy have been identified, the symptoms of which vary widely depending on the MSA type present. Generally, these disorders are characterized by an impaired ability to coordinate muscle movement, tremors, involuntary jerky muscle movements, impaired speech (dysphasia), loss of cognitive abilities, and mental deterioration. A wide variety in severity and age of onset may be found in all types of MSA. (For more information on the disorders which make up MSA, choose “Multiple System Atrophy” as your search term in the Rare Disease Database.)

Sydenham’s chorea is a disorder of the nervous system that begins abruptly after a streptococcal infection such as strep throat or rheumatic fever. This disorder usually affects young children and adolescents. Sydenham’s chorea is characterized by rapid, involuntary, non-repetitive muscle movements that may gradually become more severe and frequent. The muscles of the arms and legs are usually most affected. Speech may also be impaired. Other common symptoms may include clumsiness and facial grimacing. Chorea-like muscle movements tend to disappear with sleep. This disorder usually subsides in 3 to 6 months with no permanent neurological or muscle damage. (For more information on this disorder, choose “Sydenham” as your search term in the Rare Disease Database.)

Wilson’s disease is a rare genetic disorder characterized by excess copper stored in various body tissues, particularly the liver, brain, and corneas of the eyes. The disease is progressive and, if left untreated, it may cause liver (hepatic) disease, central nervous system dysfunction, and death. Early diagnosis and treatment may prevent serious long-term disability and life threatening complications. Treatment is aimed at reducing the amount of copper that has accumulated in the body and maintaining normal copper levels thereafter. (For more information on this disorder, choose “Wilson” as your search term in the Rare Disease Database.)

Tourette syndrome is a neurological movement disorder that usually first appears between the ages of two and 16 years. Initial symptoms are often rapid eye blinking or facial grimaces, but many parts of the body may be affected. Symptoms wax and wane, with new symptoms replacing old ones that have disappeared. Tourette syndrome is not progressive nor degenerative, and patients live a normal life span. Muscle and vocal tics characterize this disorder. (For more information on this disorder, choose “Tourette” as your search term in the Rare Disease Database.)

Dentatorubral-Pallidoluysian atrophy (DRPLA) is another spino-cerebellar degenerative disease the cause of which is linked to an abnormally high number of nucleotide repeats in the patient’s DNA. The characteristics of DRPLA include shock-like epileptic contractions (myoclonic epilepsy) usually limited to the upper extremities of one side of the body (pallidoluysian); slow, continuous, sinuous motion of the arms and/or hands (choreoathetosis); uncontrollable, irregular, uncoordinated, muscle actions (ataxia); and dementia. Age of onset is usually in the patient’s twenties, and inheritance is autosomal dominant. The disorder has been traced to a gene located at 16q24.3.

Huntington’s disease-like 2 (HDL-2) is an autosomal dominant disorder remarkably like Huntington’s disease but characterized by a different trinucleotide repeat. Onset typically occurs in the fourth decade, with involuntary movements and abnormalities of voluntary movements, as well as dementia. This disorder was described based on the experiences of one family and, except for lower frequency of eye-movement and the absence of seizures, it is similar to juvenile-onset Huntington’s disease. The gene has been traced to a site at 16q24.3 that is known as the JPH3 gene or junctophilin gene.

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Diagnosis

The diagnosis of Huntington's disease may be confirmed by a thorough clinical evaluation, detailed patient history, and a variety of specialized tests. Specialized x-ray studies such as computerized tomography (CT) scanning, magnetic resonance imaging (MRI), or electroencephalography (EEG) may help confirm the diagnosis of Huntington's Disease. During CT scanning, a computer and x-rays are used to create a file showing cross-sectional images of the brain. During MRI, a magnetic field and radio waves are used to create cross-sectional images of the brain. During an EEG, an instrument records electrical activity of the brain. Neuropsychological and/or genetic tests are also used to aid the diagnosis of Huntington's disease.

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Standard Therapies

Treatment

In August 2008, the Food and Drug Administration (FDA) approved tetrabenazine (Xenazine) for the treatment of the repetitive, involuntary movements (chorea. associated with Huntington's disease. This is the first and only FDA-approved treatment specifically for any symptom of HD. Prestwick Pharmaceuticals, Inc., of Washington, DC, is the U.S. manufacturer of tetrabenezine. The drug has been available in Europe for several years.

Other treatment for Huntington's disease is symptomatic and supportive. There are some treatments that may alleviate various symptoms temporarily. Neuroleptic medication such as haloperidon can partially suppress the involuntary movement, especially in the early stages. Other medication can often help depression and other emotional symptoms. Special high calorie food preparations may help an affected individual maintain weight and avoid choking during the later stages of Huntington's disease.

Genetic counseling will be of benefit for affected individuals and their families. Family members of affected individuals should also receive clinical evaluations to detect any symptoms and physical characteristics that may be potentially associated with Huntington's disease.

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Clinical Trials and Studies

Medivation is conducting the Huntington’s disease trial in collaboration with the Huntington Study Group (HSG), a network of more than 250 experienced clinical trial investigators, coordinators and consultants from more than 60 academic and research institutions throughout the United States, Canada, Europe and Australia.

The Phase 2 portion will be conducted at approximately 17 HSG sites in the United States and Europe and is being led by principal investigator Karl Kieburtz, M.D., M.P.H., professor of neurology at the University of Rochester and director of the HSG Clinical Trials Coordination Center.

For more information please contact

Medivation, Inc.

Patrick Machado, Chief Financial of Officer Medivation, Inc.,

+1-415-829-4101; or

Jani Bergan of WeissComm Partners, +1-415-946-1064,

https://www.medivation.com

Information on current clinical trials is posted on the Internet at www.clinicaltrials.gov. All studies receiving U.S. government funding, and some supported by private industry, are posted on this government website.

For information about clinical trials being conducted at the NIH Clinical Center in Bethesda, MD, contact the NIH Patient Recruitment Office:

Tollfree: (800) 411-1222

TTY: (860) 411-1010

Email: [email protected]

For information about clinical trials sponsored by private sources, contact:

www.centerwatch.com

In 2006, the U.S. Food and Drug Administration (FDA) granted orphan drug status for the drug candidate, HD-02. This designation followed successful phase I and phase II trials in which HD-02 seemed to reduce the serum 8OH2’dG, a chemical that is found in high levels in patients with Huntington’s disease. It also appeared to elevate brain levels of creatine. HD-02 is produced by Avicena. For information, contact the company at:

The Avicena Group

228 Hamilton Ave., 3rd Floor

Palo Alto, CA 94301

Phone: (415) 397-2880

Fax: (415) 397-2898

Email: [email protected]

The drug ethyl-EPA (Miraxion) is currently (2006) in a phase III trial co-sponsored by its manufacturer, Amarin Neuroscience. Miraxion has FDA “fast-track” status as a potential treatment for the signs and symptoms of Huntington’s disease. Amarin is currently conducting two phase III clinical trials, one in the United States and one in Europe, involving Miraxion. The one in the U.S. is being run by the Huntington’s Study Group (HSG), based at the University of Rochester. For information, call the Huntington Study Group at (800) 487-7671 or go to www.amarincorp.com.

A study of the effects of music therapy on the psychological, somatic, and social symptoms of patients with Huntington’s disease is currently (2006) in a phase I trial at the University of Rochester. This study was launched in 2005.

A May 2004 report from the Department of Medical Genetics at Cambridge University maintains that rapamycin, a drug used to prevent organ rejection after transplants, appears to slow the progress of Huntington’s disease. The report details studies with animals, but studies involving rapamycin and humans now are planned.

Researchers are studying mice with the HD gene and the use of a type of bile acid called TUDCA in possibly preventing the death of brain neurons. However, more research is needed before this approach can be tested in humans.

The National Society of Genetic Counselors has suggested the following classification of genetic test results may be predictive of Huntington’s Disease: tests showing fewer than 26 repeats of the gene suggests that a person will not get Huntington’s Disease; testing showing between 27 and 35 repeats of the gene suggests that a person is unlikely to develop Huntington Disease, but his/her offspring may be at risk; those who test between 36 and 39 repeats of the gene appear to be positive for Huntington’s Disease but with reduced penetrance; and over 40 repeats of the gene are considered positive for Huntington’s Disease.

The FDA Office of Orphan Products Development is sponsoring a randomized, double-blind and placebo-controlled Phase I and Phase II clinical trial of the antibiotic minocycline to determine whether it is safe and tolerable in patients with Huntington’s disease and whether it reduces symptoms of the disease. This trial is being conducted at the Massachusetts General Hospital in Boston. The principal investigator is Merit E. Cudkowicz, MD. More information may be obtained by contacting:

Dr. Merit E. Cudkowicz

Tel: 617-724-1873

e-mail: [email protected]

Study ID Number: FD-R-1968-01

NLM Identifier: NCT00029874

In 2001, the anti-oxidant Coenzyme Q10 received an orphan drug designation by the FDA. Additional study is needed to determine the safety and effectiveness of this treatment for Huntington disease.

In 2000, the FDA granted ethyl eicosapentaenoate orphan drug status for the treatment of Huntington disease.

Information about current clinical trials related to Huntington disease may be accessed through the Huntington Study Group, a non-profit organization of physicians and other healthcare providers in the United States, Europe, Canada, and Australian. The organization’s web site is at: www.Huntington-Study-Group.org.

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References

TEXTBOOKS

Rosenblatt A. Huntington Disease. In: NORD Guide to Rare Disorders. Lippincott Williams & Wilkins. Philadelphia, PA. 2003:537-38.

Beers MH, Berkow R, eds. The Merck Manual, 17th ed. Whitehouse Station, NJ: Merck Research Laboratories; 1999:1464-65.

Berkow R, ed. The Merck Manual-Home Edition.2nd ed. Whitehouse Station, NJ: Merck Research Laboratories; 2003:552, 553-54.

Larson DE, ed. Mayo Clinic Family Health Book. New York, NY: William Morrow and Company, Inc; 1996:477-78.

Jankovic J. Choreas, Athetosis, and Ballism. In: Bennett JC, Plum F. Eds. Cecil Textbook of Medicine. 20th ed. W.B. Saunders Co., Philadelphia, PA; 1996:2048-49.

Fahn S. Huntington Disease. In: Rowland LP. Ed. Merritt’s Neurology. 10th ed. Lippincott Williams & Wilkins. Philadelphia, PA. 2000:659-62.

Rosenblatt A, et al, eds. A Physician’s Guide to the Management of Huntington’s Disease, 2nd ed. Huntington’s Disease Society of America, 1999.

REVIEW ARTICLES

Alberch J, Perez-Navarro E, Canals JM. Neurotrophic factors in Huntington’s disease. Prog Brain Res. 2004;146:195-229.

DeKosky ST, Marek K. Looking backward to move forward: early detection of neurodegenerative disorders. Science. 2003;302:830-34.

MacDonald ME, Gines S, Gusella JF, et al. Huntington’s disease. Neuromolecular Med. 2003;4:7-20.

Margolis RL, Ross CA. Diagnosis of Huntington disease. Clin Chem. 2003;49:1726-32.

Rosser AE, Dunnett SB. Neural transplantation in patients with Huntington’s disease. CNS Drugs. 2003;17:853-67.

Hogarth P. Huntington’s disease: a decade beyond gene discovery. Curr Neurol Neurosci Rep. 2003;3:279-84.

Hersch SM. Huntington’s disease: prospects for neuroprotective therapy 10 years after the discovery of the causative genetic mutation. Cur Opin Neurol. 2003;16:501-06.

Bilney B, Morris ME, Perry A. Effectiveness of physiotherapy, occupational therapy, and speech pathology for people with Huntington’s disease: a systematic review. Neurorehabil Neural Repair. 2003;17:12-24.

Ostenfeld T, Svendsen CN. Recent advances in stem neurobiology. Adv Tech Stand Neurosurg. 2003;28:3-89.

Grimbrgen YA, Roos RA. Therapeutic options for Huntington’s disease. Curr Opin Investig Drugs. 2003;4:51-54.

Gasser T, Bressman S, Durr A, et al. State of the art review: molecular diagnosis of inherited movement disorders. Movement Disorders Society task for on molecular diagnosis. Mov Disord. 2003;18:3-18.

Emerich DF. Neuroprotective possibilities for Huntington’s disease. Expert Opin Biol Ther. 2001;1:467-79.

Burson CM, Markey KR. Genetic counseling issues in predictive genetic testing for familial adult-onset neurologic diseases. Semin Pediatr Neurol. 2001;8:177-86.

Sieradzan KA, Mann DM. The selective vulnerability of nerve cells in Huntington’s disease. Neuropathol Appl Neurobiol. 2001;27:1-21.

Hughes RE, Olson JM. Therapeutic opportunities in polyglutamine disease. Nat Med. 2001;7:419-23.

Freeman TB, Hauser RA, Willing AE, et al. transplantation of human fetal striatal tissue in Huntington’s disease: rationale for clinical studies. Novartis Found Symp. 2000;231:129-38; discussion 139-47.

Meiser B, Dunn S. Psychological impact of genetic testing for Huntington’s disease: an update of the literature. J Neurol Neurosurg Psychiatry. 2000;69:574-78.

Gutekunst CA, Norflus F, Hersch SM. Recent advances in Huntington’s disease. Curr Opin Neurol. 2000;13:445-50.

FROM THE INTERNET

McKusick VA, ed. Online Mendelian Inheritance in Man (OMIM). Baltimore. MD: The Johns Hopkins University; Huntington Disease; HD. Entry No:143100; Last Update:2/17/2004

NINDS Huntington’s Disease Information Page. Reviewed 07-01-2001. 2pp.

www.ninds.nih.gov/halth_and_medical/disorders/huntington.htm

NINDS Huntington’s Disease – Hope Through Research. Reviewed July 1, 2001. 19pp.

www.ninds.nih.gov/halth_and_medical/pubs/huntington_disease.htm

MedlinePlus. Huntington’s Disease. Last Updated: 26 February 2004. 3pp.

www.nlm.nih.gov/medlineplus/huntingtonsdisease.html

Huntington’s Disease: A guide for families. Huntington’s Disease Society of America. 1996. 21pp.

www.nyic.com/hdsa/edu/Pubs.pl

What is Huntington’s Disease? Huntington’s Disease Association. nd. 4pp.

www.had.org.uk/charity/whatishd.html

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Programs & Resources

• Assistance Programs
• Patient Organizations
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RareCare^® Assistance Programs

NORD strives to open new assistance programs as funding allows. If we don’t have a program for you now, please continue to check back with us.

Additional Assistance Programs

MedicAlert Assistance Program

NORD and MedicAlert Foundation have teamed up on a new program to provide protection to rare disease patients in emergency situations.

Learn more https://rarediseases.org/patient-assistance-programs/medicalert-assistance-program/

Rare Disease Educational Support Program

Ensuring that patients and caregivers are armed with the tools they need to live their best lives while managing their rare condition is a vital part of NORD’s mission.

Learn more https://rarediseases.org/patient-assistance-programs/rare-disease-educational-support/

Rare Caregiver Respite Program

This first-of-its-kind assistance program is designed for caregivers of a child or adult diagnosed with a rare disorder.

Learn more https://rarediseases.org/patient-assistance-programs/caregiver-respite/

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Patient Organizations

Huntington’s Disease Society of America

Phone: 212-242-1968 Email: [email protected] Fax: 212-239-3430

Related Rare Diseases: Huntington’s Disease

https://rarediseases.org/organizations/huntingtons-disease-society-of-america/

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Hereditary Disease Foundation, Inc.

Email: [email protected] Fax: 212-928-2172

Related Rare Diseases: Huntington’s Disease

https://rarediseases.org/organizations/hereditary-disease-foundation-inc/

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Huntington Society of Canada

Phone: 519-749-7063 Email: [email protected] Fax: 519-749-8965

Related Rare Diseases: Huntington’s Disease

https://rarediseases.org/organizations/huntington-society-of-canada/

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International Huntington Association

Email: [email protected]

Related Rare Diseases: Huntington’s Disease

https://rarediseases.org/organizations/international-huntington-association/

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Huntington’s Disease Association of New Zealand

Email: [email protected]

Related Rare Diseases: Huntington’s Disease

https://rarediseases.org/organizations/huntingtons-disease-association-of-new-zealand/

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Israeli Huntington Disease Association

Email: [email protected]

Related Rare Diseases: Huntington’s Disease

https://rarediseases.org/organizations/israeli-huntington-disease-association/

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New Horizons Un-Limited, Inc.

Phone: 414-299-0124 Email: [email protected] Fax: 414-347-1977

Related Rare Diseases: MECP2 Duplication Syndrome, Collagen Type VI-Related Disorders, Spinal Muscular Atrophy, ...

https://rarediseases.org/organizations/new-horizons-un-limited-inc/

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Huntington’s Association of South Africa

Email: [email protected]

Related Rare Diseases: Huntington’s Disease

https://rarediseases.org/organizations/huntingtons-association-of-south-africa/

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Huntington’s Disease Society of America – Connecticut Affiliate

Email: [email protected]

Related Rare Diseases: Huntington’s Disease

https://rarediseases.org/organizations/huntingtons-disease-society-of-america-connecticut-affiliate/

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Huntington’s Disease Youth Organization

Phone: 782-179-9554 Email: [email protected]

Related Rare Diseases: Huntington’s Disease

https://rarediseases.org/organizations/huntingtons-disease-youth-organization/

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More Information

The information provided on this page is for informational purposes only. The National Organization for Rare Disorders (NORD) does not endorse the information presented. The content has been gathered in partnership with the MONDO Disease Ontology. Please consult with a healthcare professional for medical advice and treatment.

GARD Disease Summary

The Genetic and Rare Diseases Information Center (GARD) has information and resources for patients, caregivers, and families that may be helpful before and after diagnosis of this condition. GARD is a program of the National Center for Advancing Translational Sciences (NCATS), part of the National Institutes of Health (NIH).

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Orphanet

Orphanet has a summary about this condition that may include information on the diagnosis, care, and treatment as well as other resources. Some of the information and resources are available in languages other than English. The summary may include medical terms, so we encourage you to share and discuss this information with your doctor. Orphanet is the French National Institute for Health and Medical Research and the Health Programme of the European Union.

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OMIM

Online Mendelian Inheritance In Man (OMIM) has a summary of published research about this condition and includes references from the medical literature. The summary contains medical and scientific terms, so we encourage you to share and discuss this information with your doctor. OMIM is authored and edited at the McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine.

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