Archive for January 2014

HD in Malaysia


An Overview^

Malaysia is a multicultural country with three main ethnic populations. The indigenous Malaysians, Chinese and Indians make up approximately 62 percent, 29 percent and 8 percent of the population respectively. The prevalence of HD is 0.0024 per 10,000 people, based on seven reported cases.


To test the hypothesis that HD in Asia has a Caucasian origin, a HD registry was established in Malaysia in 1995 at the University of Malaya Medical Centre, Kuala Lumpur. Within eighteen months, the registry had identified seven unrelated patients with HD. From these individuals, there were four Chinese, one Malaysian and two Indians. Despite the previous hypothesis set forth that HD in Asian countries originated from Europe; only one Chinese patient, out of selected seven patients, had possible Irish ancestry. Moreover, there are several social and cultural reasons that the hypothesis set forth is likely to be false. The remaining three Chinese participants did not have any relatives with Caucasian features. Culturally, Chinese women were forbidden to have close contact with foreigners. Women did not travel unless they were accompanying their husbands. Prostitution as a profession for women was deeply despised and extramarital sexual contact was strongly forbidden. Hence, it was highly unlikely that female ancestors of these patients would have sexual contact with asymptomatic Caucasian HD men and therefore result in the mixing of genes. In addition, other participants also did not have European origin, since one Malaysian patient was a local while the two Indian patients originated from Tamil Nadu and Punjab in India respectively.

There is also evidence against the European migration hypothesis from the current genetic literature. Although the nature of the abnormal trinucleotide repeats of the HD gene in Chinese patients is similar to that in Caucasian HD patients, a majority of the tested Chinese patients have a small number of excess CAG repeats. Additional genetic evidence show that there are seven CCG repeats adjacent to IT15, or the Huntington Gene, in Asians but ten CCG repeats in Caucasians. The distribution of the CCG repeat adjacent to IT15 is of seven repeats in Asians and 10 repeats in Caucasians. The distribution of the CCG repeats differs among populations of low prevalence and the west. Therefore, mutation of the IT15 gene rather than the European migration hypothesis is likely to be the explanation for the variation in Malaysian prevalence of HD.

The interim results of the Malaysian HD registry have shown that HD exists in all major racial groups in Malaysia, with all cases exhibiting an excess of CCG repeats. The theory that Caucasian migration led to genetic mixing and a resulting low HD prevalence in Malaysia is less plausible according to the data collected by the registry; more likely, cases of HD in Malaysia arose due to a separate mutation of the HD gene. Nevertheless, because only seven HD patients were identified, these conclusions should be considered with caution to avoid errors in assumption and generalization.

The Global HD research and articles received partial support from the Bingham Fund for Innovation in the Program in Human Biology.

Resources in Malaysia^

University of Malaya Medical Centre in Kuala Lumpur

In 1995, a nationwide HD registry was established at the University of Malaya Medical Centre, Kuala Lumpur. The Medical Centre is one of the major public tertiary referral hospitals. It keeps reports of clinical and genetic studies of the patients seen since the setting up of the Registry.

For more information regarding the association, please visit:

N.J. 2014


World Congress 2013 – Premanifest HD

In September 2013, several HOPES student researchers attended the Huntington’s Disease World Congress, held in Rio de Janeiro, Brazil. Summaries of the all the sessions attended can be found in the Conferences and Conventions section of our site.

The HOPES trip to the 2013 World Congress received partial support from the Bingham Fund for Innovation in the Program in Human Biology.

HD is a unique disease because it is one of few diseases where patients who choose to test and do test positive for the mHTT gene will almost inevitably develop symptoms, making cohorts of premanifest HD subjects a valuable group for scientists to study, because the age of disease onset, severity of symptoms, and progression of the disease varies substantially. While it is valuable to study this population, studies of premanifest HD patients are complicated by the fact the line between pre-symptomatic HD and diagnosed HD is difficult to distinguish at times. So the need for biomarkers and a better description of premanifest and early stage HD needs to be outlined and to reach a consensus among physicians and researchers because the first treatment of HD will likely lie in delaying the onset and reducing the severity of HD rather than finding a cure.

Table of Contents:

1.Premanifest HD (Karl Kieburtz, United States)
2.Motor Assessment Reviewed (Ralph Reilmann, Germany)
3.Neuropsychology in Premanifest HD (Julie Stout, Australia)
4.MRI biomarkers in Premanifest HD (Rachael Scahill, United Kingdom)
5.Overview of pridopidine DRF Study design (Karl Kieburtz, United States and Anna Wickenburg, Sweden)

Premanifest HD (Karl Kieburtz, United States)

One of the first speakers at the Congress began his discussion of the success of other diseases and their associated biomarkers to confirm a diagnosis. One example, autosomal dominant Alzheimer’s disease (ADAD), common in a small population in Colombia has specific biomarkers: amyloid protein aggregation and hippocampal volume. ADAD is similar to HD, since it is a neurodegenerative disease in which the patient’s children have a 50% chance to inherit the disease because the disease is caused by the genes on one of the alleles that the patient possesses. For more on the genetics of HD click here. The amyloid protein aggregates and decreased hippocampal volume indicates the neurodegenerative effects of ADAD. ADAD has biomarkers that serve as diagnostic criteria that are parallel to biomarkers in HD patients that could potentially be used for diagnostic criteria for HD. The measure of hippocampal volume in ADAD corresponds to the decreased striatal and white matter volume measured by MRI in HD and premanifest HD patients. The functional test and imaging tests for ADAD in a 2- year randomized study of 210 ADAD patients in a Colombian population confirmed the diagnostic viability of these two tests. Kieburtz ended his discussion with a suggestion of what the HD community needs to find similar diagnostic criteria to ADAD. He called for a consensus and definition for both premanifest and active HD. He suggested the community needs a test that measures cognition, but also has an imbedded functional component. Finally he said that biomarkers of clinical features such as MRI images need discussion, definition, and universal acceptance.

Motor Assessment Reviewed (Ralph Reilmann, Germany)

Following up Dr. Kieburtz discussion, Dr. Reilmann elaborated on the disadvantages of the standard HD evaluative test, the UHDRS-TMS, and described specific tests that could potentially be useful in the diagnosis of HD. The UHDRS-TMS is useful but does not catch sudden changes in HD progression and ultimately has a profound placebo effect because it focuses primarily on motor symptoms. Still motor symptoms studies are useful because they are common to the phenotype of the disease and are not influenced by a language barrier like cognitive and behavioral tests. The Track-HD study uses the Tapping Force Assessment (TFA), which encompasses two tests, having patients both tap as fast as they can and tapping in a metronomic pattern, meaning they try to keep a specific pace that is first set by a beeping in their ear. The patient then has to keep the same pace of the tap with their index finger after the beeping stops. Dr. Reilmann suggested that TFA was more sensitive to changes of HD progression than the UHDRS-TMS test.

Neuropsychology in Premanifest HD (Julie Stout, Australia)

Dr. Julie Stout discussed the evidence of small but significant cognitive and behavioral deficits in premanifest HD, as well as profound structural effects in the brain. Classical cognitive symptoms of HD include slowed thinking, forgetfulness, apathy, and problems with decision-making.  Stout found that these symptoms existed in patients well before they were diagnosed with HD but only at a minor level. These results are picked up by very specific cognitive tests and Stout claims that an average patient’s life would not be significantly changed by such small decreases in cognition. However, these cognitive impairments accelerate quickly before diagnosis and thereafter, according to the Hopkins Verbal Learning test, visual spatial, transformation, motor, visual working memory, attention, and spoken reading speed tests. These deficits can be detected 10 to 15 years before the onset of HD. Unlike cognitive deficits; Stout says that MRI scans reveal profound structural changes in brain volume which can be detected up to 20 years in premanifest HD patients. However, Stout says that neural activity increases in some areas of the brain in premanifest HD patients, perhaps compensating for neurodegenerative effects that have already taken a toll on white matter and striatal volume. So while decreased brain volume is correlated with decreased cognitive and motor effects, the latter takes a longer time to manifest because of brain elasticity and compensatory activity.

MRI biomarkers in Premanifest HD (Rachael Scahill, United Kingdom)

Dr. Scahill discussed structural MRI as a leading option for biomarkers in HD. The usefulness of MRI is that is a common machine in most hospital and clinic setting. It is relatively inexpensive compared to other imaging options such as PET, fMRI, and diffusion metrics. MRI imaging of decreases in striatal volume is highly correlated with symptom progression. However due to individual variation in initial amount of grey and white matter it is difficult to make MRI a definite clinical feature. Ultimately Rachael suggests that MRI images have to taken into account along with functional and behavioral tests of HD patients. However it is still an essential measure of disease progression. Meanwhile other imaging techniques are getting better, more common, and less expensive.

Overview of pridopidine DRF Study design (Karl Kieburtz, United States and Anna Wickenburg, Sweden)

Kieburtz and Wickenburg end the discussion of premanifest HD by discussing the ongoing study of pridopidine in HD. Pridopidine is a drug that stabilizes dopamine levels in the nervous system. The MermaiHD and HART studies suggest that pridopidine reduces inflammation in the brain in HD patients and improves motor symptoms overall. While the drug is well tolerated in patients and moving on in development, there is a small concern about dangers with anthemia and seizures, so the next study is testing higher doses of pridopidine in the hopes that higher doses will create greater clinical results.

W. St. Amant


HD in France

An Overview

Huntington’s disease (HD) takes a unique form in France. France has a reduced prevalence of 3 to 7 people in 100,000 compared to 10 in 100,000 people in the United States.  Because of the small population in France, less than 2,000 people are diagnosed with HD, which makes a much smaller affected group than in the United States. This low prevalence makes it difficult for France to focus its efforts in either research or treatment of HD. On the other hand, France has what many consider to be the best healthcare system in the world, with its government subsidizing the majority of patient care through taxes on employers. Similarly, efforts for treatment and finding a cure for HD and other rare disease are centralized in a “reference center”, the teaching hospital Henri Mondor.

Insurance and Treatment

All citizens of France are required to subscribe to the national health insurance plan, which is funded from the revenue of the social security tax on workers and an even larger portion is paid through contributions from employers. Many people also purchase supplemental private insurance to cover dental, dermatological, optometric, and other specialized care.  The French National Health Service generally refunds patients about 75% of their total healthcare costs. Despite this aid, healthcare can still be a great financial burden for patients with chronic conditions such as HD. HD falls within the long-term illness coverage plan known as the list of Afflictions of Long Duration (ALD30), which covers 100% of the costs of treatment for 30 chronic diseases or disease categories. Initially, the ALD30 plan was a purely a financial plan, but now following major reforms to the healthcare policy in 2004, the plan encompasses a treatment plan known as a “care pathway” for each of the 30 disease categories. The reform to the French healthcare system refocused treatment on the general practitioner who then refers patients to specialized doctors, such as neurologists for HD patients. The National Health Service will not fully subsidize patients who seek a specialist without consulting a general practitioner. In this way HD patients have a primary care physician in charge of their health from the start.

The care pathway for HD falls under category 9 of the ALD30, “severe forms of neurological or muscular conditions”[1].  In the past ten years, this system in which the general practitioner acts as a gatekeeper to other practices has strengthened the bond between hospitals and specialized services, medical or otherwise. HD patients can receive advanced neurological and medical treatment, along with other non-medical services that are of use to HD patients such as: psychological, social, and genetic counseling.  In a conversation with Dr. Jean Marie Fessler, president of a collection of 33 public health and medical establishments known as MGEM in France, he said that France’s resources for those with HD are “the best, but without doubt not sufficient”, noting that departmental homes, psychiatric care, and hospice care are all under the umbrella of fully subsidized care for those with incurable diseases.

While the guidelines for physicians and the care pathway for HD patients are sufficient, there is sometimes a disconnection between theory and practice. Because of a lack of patient education and community resources, care can be fragmented, and there is still no great incentive for the general practitioner to follow-up with the patient even though the infrastructure and resources are in place. Research also lags behind in France, even though the reference center for HD has a cohort of patients and runs clinical trials. Funding for research is a fraction of the funding put towards HD in the United States. This is due to France having a smaller affected population, smaller GDP, and less available funding overall.

A proactive HD patient can reap great benefits in healthcare in France. The burden is not financial so much as it is self-education and a commitment to seeking the many medical and social services.  For a disease without a cure, the subsidized therapeutic treatment, counseling, and end-of-life care puts France among the leaders in the treatment of Huntington’s disease around the world.

The Global HD research and articles received partial support from the Bingham Fund for Innovation in the Program in Human Biology.

Further Reading:

For an extensive overview of France’s management of chronic diseases, read Chapter 4 of the European Observatory’s Study Series.


W. St. Amant


HD in Australia

Australia is a part of world where extensive research regarding Huntington’s Disease has been done on a variety of different subtopics. Researchers have been able to draw conclusions about reproduction, age of onset, and the origins of the disease. They have also come to realize that prevalence varies throughout the continent, reaching as high as 12.1 individuals per every 100,000 in some areas. In an attempt to support individuals affected by HD, Australia appears to have developed a large and supportive HD community spread throughout the continent. In fact, the 2011 World Congress on Huntington’s Disease was hosted in Melbourne, Australia.

This section of Global HD aims to highlight regions within Australia in which the HD populations have been studied, and where history and significance within the HD context have been demonstrated.


An Overview

Tasmania, an island state located 150 miles off the southern coast of Australia, is the region within the Australian Commonwealth that has been shown to have the highest prevalence of HD, with 12.1 cases per 100,000 people. This is a unique and somewhat surprising finding considering that, in most Western countries, it is predicted that the prevalence of HD is 5 to 7 cases per 100,000 individuals, which is a statistic that is more on par with the rest of the Australian continent. The unusually high prevalence that has been noted in Tasmania has prompted researchers to conduct a variety of studies regarding the region’s HD population, making it a well-studied and important area in the context of global HD.


In 1949, Dr. Charles Brothers came across a large Tasmanian family that was presenting symptoms of HD. This family has continued to be studied over the years, but for medical confidentiality purposes, they are known in research literature only as “the Brothers family.”

It is believed that HD was first brought to Tasmania in 1842 by an English woman identified as “Mary.” Mary was born in Long Sutton, Somerset, England in 1806, and appears to have inherited the disease from her father, “Robert,” who was born in 1776 in Somerset. Researchers have named “Robert” the originator of HD in Tasmania, and he is considered to be the first generation of the Brothers family.

Mary married several times before leaving England for Launceston, Tasmania with her husband, “Charles,” and her seven children in 1842. Mary proceeded to give birth to seven more children in Tasmania. Of her 14 children, nine developed HD. All nine children later went on to have children of their own. As of 1990, seven of these nine lineages still had living descendants, with six branches containing descendants that were either at risk or affected by HD.

Nine generations of the Brothers family have been studied, and more than a century after Mary’s death, there have been 765 identified family members living at risk. The average age of onset for affected Brothers family members was found to be 48.6 years old, and the average age of death was 61.8 years. Fertility studies showed that there was no evidence that suggests that the ability to reproduce was negatively impacted in any of the affected individuals. In fact, the disease appeared to correlate with greater fertility amongst Brothers family members, while led to past (and now out-dated) medical recommendations that at risk individuals be sterilized once they had achieved their desired family size.

Studying the Brothers family lineage provided researchers with a better understanding of HD and helped explain the higher than expected prevalence of HD in Tasmania by allowing them to trace the disease back to a single common ancestor.

The fact that Tasmanians with HD can be traced back to a common ancestor appears to explain the higher than expected prevalence of HD in Tasmania.

The Global HD research and articles received partial support from the Bingham Fund for Innovation in the Program in Human Biology.

Resources in Tasmania

Huntington’s Disease Association within the Tasmanian Department of Health and Human Services

The Huntington’s Disease Association provides support for Tasmanians affected by HD. The Association supports Tasmanian people of any age, including those living with HD, families of those affected, caregivers, and anyone at-risk of developing HD. The association can provide financial and moral support, special equipment, food supplements, information booklets, and introductions to others affected by HD.

For more information regarding the association, please visit:

Australian Huntington’s Disease Association Tasmania Inc.

The Association was established to develop educational programs and provide support for Tasmanians affected by HD. It aims to assist families with coping with and understanding the disease, all while helping these families develop a strong unified voice.

For more information regarding the association, please visit:

R. Reddy 2014


World Congress 2013 – Coping Skills Session

In September 2013, several HOPES student researchers attended the Huntington’s Disease World Congress, held in Rio de Janeiro, Brazil. Summaries of the all the sessions attended can be found in the Conferences and Conventions section of our site.

The HOPES trip to the 2013 World Congress received partial support from the Bingham Fund for Innovation in the Program in Human Biology.

Coping Skills Session

One of the most difficult ideas to accept about Huntington’s Disease is that (currently) there is no cure or treatment: it is fatal and devastating. Given this harsh reality, some of the most important skills for patients and their loved ones to acquire involve those associated with coping. On the second day of the HD World Congress in Rio de Janeiro, three lecturers shared their research and personal experiences about how to cope in a world with HD.

Suicidality in Huntington’s Disease

The first lecture entitled “Suicidality in Huntington’s Disease” was given by the researcher Aam Hubers from the Netherlands. Hubers explained that HD patients are between two and eight times more likely to commit suicide, amount to 5.7% of HD deaths coming from suicide. Five to ten percent of HD patients attempt to commit suicide, and on average at least 11% of patients admit to having had suicidal ideation within the most recent month. Suicidal ideation occurs most when patients begin having possible symptoms of HD, meaning that 20% of newly premotor symptomatic patients and newly motor symptomatic begin having suicidal ideation. These patients are more likely to use antidepressants, have a depressed mood, and tend to be more aggressive and anxious. Given these disturbing statistics, Hubers explained how her future research was aimed at discovering how HD patients who experienced suicidal ideation coped and resisted making a suicide attempt. Her data collection revealed the pressing necessity for a deeper exploration of how HD specifically can cause psychological problems and how those problems can be addressed with and without medication.

Gene Veritas

The second lecture, “Gene Veritas”, was presented by Kenneth Serbin from the United States. Serbin explained that his mother and himself had both tested positive for the HD gene, and after her death he began to search for ways to cope with what seemed like a death sentence. Serbin mentioned twelve of the coping strategies that he had written about on his blog so far at These included:

-Learning about the disease

-Gaining discipline from exercise

-Having a healthy diet

-Studying available supplements (creatine, CoQ, Omega 3, blueberry concentrate, etc)

-Taking psychiatric medications, as they have been show to have a neuroprotective effect

-Going to support groups and psychotherapy


-Finding a passion in life

-Doing “neurobics” (mental aerobics) to increase BDNF in the brain

-Going public about having HD to overcome denial and stigma

– Becoming an advocate to connect with people

-Assisting with research studies

Serbin uses these coping skills and more, he explained, to be proactive in his own health and the HD community. With the current state of scientific research, Serbin genuinely believes that testing positive for HD is no longer a death sentence if one takes control of their HD diagnosis now.

Living with HD

The third and final lecture in this session was entitled “Living with HD – Then and Now” and was given by Charles Sabine from the United Kingdom. Structured mostly as a motivational presentation, Sabine told his story about HD in his family. His father was diagnosed with HD in 1984, and surrounding that diagnosis were fear, shame, and ignorance. In 2005, Sabine and his brother both tested positive for the gene, but Sabine used his own diagnosis as a platform to emphasize the power of patient organizations in the HD community. He utilized his position as a public figure to support the passage of the Genetic Information Nondiscrimination Act (GINA) in 2008 in the United States, which protects Americans from discrimination against employers and insurance companies based on genetic information, and gave media coverage in Britain of HD organizations, events, and bills, which he continues to do today. Sabine closed his lecture noting that testing positive for HD in the present is a much less negative experience than in the past specifically because of amazing outreach done by patients and their families.

These three lectures shared one common, inspiring theme: though there is not currently a cure for HD, there is still hope! Whether it is hope for a treatment, for personal longevity of life, or even just hope for support from the HD community, there are always ways to maintain a positive outlook on living with HD if one manages to realize the exciting possibilities the future holds for curing this disease.

C. Bartlett 2013


World Congress 2013 – Therapies

In September 2013, several HOPES student researchers attended the Huntington’s Disease World Congress, held in Rio de Janeiro, Brazil. Summaries of the all the sessions attended can be found in the Conferences and Conventions section of our site.


The HOPES trip to the 2013 World Congress received partial support from the Bingham Fund for Innovation in the Program in Human Biology.


The last day of the conference focused on various therapies, life habits, and treatment options. Each talk was presented by a different scientist.

Management of Behavioral Problems in HD (David Craufurd, United Kingdom)

Behavioral problems have a large effect on the quality of life for an HD patient. They may include depression, suicide, anxiety, agitation, irritability, impulsive aggressive, apathy, perseveration, psychotic symptoms, disturbed sleep patterns, and OCD; the most common symptoms are fatigue and lack of initiative or perseverance. Often, these symptoms can become more distressing than the cognitive and motor symptoms. While cognitive and psychological symptoms have a far greater impact on Functional Capacity, both sets of symptoms respond to treatments and medications available now.

Dr. Craufurd explained that depression and irritability remain at relatively equal levels throughout different stages, but anxiety is often more prevalent in late-stage HD. Treatments vary from person to person. Depression in HD patients often responds well to conventional antidepressant medication. Selective serotonin reuptake inhibitors, at higher doses, can be helpful for irritability. Physicians and other medical professionals must be aware that relapse often occurs when treatment stops. In addition to medication, general psychiatric support is needed, making a great argument for beginning cognitive behavioral therapy during early stages of the disease.

Treatment of apathy is not always pharmological, but rather, it requires psychoeducation within structured environments such as adult day care and exercise programs. Physicians should avoid the use of dopamine blocking or depleting drugs in excess as neuroleptics and tetrabenazine might worsen apathy.

One should always consult their medical professional before beginning any course of medical treatment.

Deep Brain Stimulation in HD (Binit Shah, USA)

Many HD patients experience a symptom set known as chorea, a random, involuntary arrhythmic set of movements of the face, trunk, and limbs. Chorea is thought to be a loss of striatal GABAergic inhibitory projections to the Globus pallidus externa. While pharmalogical treatments such as tetrabenazine exist, surgical treatment for chorea has become available in recent years.

Surgery to treat chorea often involves making legions in the pallidum of the brain, known as a pallidotomy. During this procedure, an electrode is inserted into the brain, heated up, and then used to target specific nuclei. The other form of brains surgery, deep brain stimulation, uses electrical fields to attack its targets. Results essentially decrease inhibition of indirect pathways, which lead to the trademark excessive moments.

Deep Brain Stimulation (DBS) is a surgical implantation of electrodes into deep brain structures while patent is awake. Connection and implementation of a pulse generator occur under general anesthesia.

As with any brain surgery, there are certainly risks, as well as candidacy factors. While DBS and pallidotomies can have immediate results, a “honeymoon effect” can occur, in which results are not long lasting. To be a candidate for this type of surgery, one must express appropriate motor symptoms that are less prominent than ataxia or dystonia. The patient cannot have severe impairments to cognitive or physiological functions as the patient must be actively engaged in the operating room and programming period. It is unclear whether these procedures are associated with adverse cognitive effects. While DBS and pallidotomy can provide some relief, it has no impact on the slowing or stopping of the progression of Huntington’s disease. Other motor features will still express and cognitive/psychological symptoms can predominate. Unfortunately, it is costly as well and is not covered by many insurance plans.

Swallowing and Nutrition (Francis Walker,US)

Huntington’s disease creates a metabolic inefficiency within an individual’s body. While appetite, food consumption and energy consumption increase in HD, weight loss is often present. Weight loss, especially in late stages, is often due to swallowing and increased movements. As for earlier stages, the causes are unclear. However, increased CAG length is associated with lower weight in HD patients.

Many problems arise with swallowing. Mylohyoid and geniohyoid muscle contractions within the throat are erratic and uncontrollable. This can lead to a delay in swallowing, retention of food in the mouth, incomplete or repeated swallows, and a lack of coordination between speaking, swallowing, and breathing. Additionally, impulsivity and eating too fast cause choking hazards. Chorea and impersistence of the tongue and pharynx result in a spillage of food.

Signs of trouble swallowing include repeated throat clearing, coughing, “wet mouth” speaking tones, progressive slowing of feeding, regurgitation, and congestion.

There are certain methodologies that can be used to ease difficulties associated with eating. In the early stages of the disease, avoid excessive eating. If weight loss is prominent, physicians should look for signs of gastritis or depression. During mid-stages, develop strategies to slow down and create smaller portions. Increased calories within meals as well as regular meal routines can help. In late stages, high-fat meals are essential for calories.

Below is a list of other tips and hints for caregivers responsible for HD patients’ meals:
• Use gravy sauces or condiments with dry foods.
• Crush medications in apple sauce.
• Avoid distractions and talking while eating.
• Learn the Heimlich maneuver.
• Place food on the back of the molars if the patient has trouble maneuvering food within the mouth.
• Use thickened liquids.
• If gurgling or wet sounds occur, ask the patient to cough.
• Make sure food is swallowed. Try swallowing twice, if needed.

Late stage treatment options and wishes in relation to quality of life (Raymund Roos, Netherlands)

End-of-life treatments and plans can be difficult for families to think about, let alone plan. HD patients face a variety of dilemmas such as pneumonia, the decision to insert a feeding tube, use of deep sedation, and even, at times, physician assisted suicide or euthanasia.

The most common causes of death for HD patients include pneumonia, choking, suicide and euthanasia. It is important for medical professionals to understand the challenges their patients face and, if applicable, in their state or country, know the options and procedures if the patient requests death with dignity. The criteria for ending life include 1) voluntary participation, 2) suffering unbearably without relief, 3) a physician must have informed knowledge of the situation, 4) no reasonable or alternative solution exists, and 5) the procedure is performed professionally and carefully.

Dr. Raymund Ross conducted a survey study in the Netherlands, where the Termination of Life and Request and Assisted Suicide Act legalizes euthanasia under strict conditions. The aim of the study was to determine whether there were any end-of-life wishes present in Dutch HD patients. Furthermore, he attempted to understand if certain disease characteristics contributed to these wishes.

75% of survey participants indicated that they had thoughts about end-of-life alternatives due to the loss of their personal dignity. Often these patients had been exposed to family members who had suffered an earlier fate, which influences the patient’s decision as he/she understands the disease progression.

Dr. Raymund Ross explored the results of discussion of euthanasia with patients, which often decreased the amount of follow-through from the patient. He also encouraged physicians to take initiative to talk to patients about end-of-life matters early on, as to not complicate matters for their caregivers when the patient can no longer make decisions for his or herself.

Further Reading

1. “Hereditary Disease Foundation – Predictive Test Guidelines.” Hereditary Disease Foundation. N.p., n.d. Web. 17 Jan. 2014. .
2. Semaka, A., L. Balneaves, and M. Hayden. “”Grasping the Grey”: Patient Understanding and Interpretation of an Intermediate Allele Predictive Test Result for Huntington Disease.” Journal of Genetic Testing (2013): 200-17. Print.
3. HSG Pharos Investigators. “At Risk for Huntington Disease: The PHAROS (Prospective Huntington At Risk Observational Study) Cohort Enrolled.” JAMA Neurology63.7 (2006): 991-96. Print.
4. Tabrizi Et Al. “Potential Endpoints for Clinical Trials in Premanifest and Early Huntington’s Disease in the TRACK-HD Study: Analysis of 24 Month Observational Data.” The Lancet 11.1 (2012): 42-53. Print.

KP 2014


HD in South America

Para una versión en Español, haga clic aquí

South America is a region rich with the history of Huntington’s disease. Within this continent, important and necessary research for the discovery of the HD gene has taken place. This research can be attributed to the fact that the largest concentration of families in the world affected by HD lives here. Despite the importance of South American populations to HD research, resources for HD patients in this region are few and far between.

This section of Global HD aims to highlight countries in South America that have history and significance within the HD context.

Please stay tuned as we update this site with more country-specific information.

The Global HD research and articles received partial support from the Bingham Fund for Innovation in the Program in Human Biology.


An Overview

Huntington’s disease is the most prevalent polynucleotide disorder in South America. In Venezuela, the overall prevalence of HD is 1 in 20,000 people. However, Maracaibo, one of the most northern lake regions in the country, has a prevalence of 7 cases per 100 people. As a result, Venezuela is an extremely important country in the context of global HD.


Americo Negrette was born in Venezuela in 1923 and studied medicine at the Central University of Venezuela. In 1942, while instructing in the San Francisco region of Maracaibo, Negrette noticed patients walking throughout the streets with strange gaits, referred to by the local people as “Sanviteros.” The hereditary disease, which Negrette accurately identified as HD, was called “el mal de San Vito” (the illness of San Vito). In 1955, Negrette presented his clinical observations at the Sixth Medical Sciences Congress in Venezuela. In 1963, he devoted two sections of his book to HD and its expression in his patients.

Years later, after the death of Dr. Negrette, a student trained under his direction published information on cases of HD in the Maracaibo region. Negrette’s student had unknowingly located the population that would lead to many discoveries concerning the genetic origins of HD.

In 1979, Nancy Wexler, an American scientist, and her team began a collaboration with the affected families of Maracaibo. Due to breakthroughs in recombinant DNA research, the “Gene Hunter team”, as they were called, were able to initiate a study in which they created pedigrees, or family trees, of the vast network of HD patients in the region. Because the genealogy record was so thorough, the researchers were able to discover that all the residents of Lake Maracaibo had a common ancestor, Maria Concepcion Soto, who first arrived in the region sometime in the 19th century. She is considered the “founder” since approximately 20,000 descendants at risk for HD could be traced back to her.

With this wealth of data, the team was able to narrow down the location of the HD gene in 1983. This discovery was a huge scientific breakthrough, not only in the search for a HD cure, but also for understanding genetic inheritance.


Casa Hogar Amor y Fe (House of Love and Hope)

Casa Hogar Amore y Fe, The House of Love and Hope, was created in 1999 as a thank you to the families of Maracaibo who had contributed to the scientific advancements in HD research. Due to the immense poverty and lack of resource in the area, Casa Hogar serves as a support system for those suffering from Huntington’s disease.

Asociacion Venezolana de Huntington

The Venezuelan Association for Huntington’s offers resources and information relating to Huntington’s disease. The website is in Spanish and focuses on treatments, medical connections, and clinics available to Venezuelans.




Peru contains the second largest population of HD patients in South America. This country bordering the Pacific Ocean contains significant potential for epidemiology research, but so little has been invested in it to date. Similarly to other affected regions within South America, Peru still struggles with providing basic resources to those affected by Huntington’s disease. While some researchers have initiated research in the region, progress is still its beginning stages.


The first family identified with Huntington’s disease was discovered in 1952 in the northern region of Peru. In 1980, the first cases of HD were identified in Cañete. This region, south of the capital of Peru, Lima, has a prevalence of 45 cases per 100,000 individuals. It is the second largest concentration of Huntington’s disease in Latin America. Scientists have discovered that the prevalence weakens the further the distance from Cañete, meaning the further one travels from Cañete, the smaller the population of HD patients becomes.


Important Researchers

Dr. Carlos Cosentino

Dr. Carlos Cosentino is a Peruvian researcher studying the region of Cañete. He has researched its prevalence, as well as created some of the first clinical trials and research projects for the disease in the entire country. While resources in Peru are vastly underfunded for those with Huntington’s disease, Dr. Cosentino is doing his best to provide services such as genetic counseling and family support to those affected.



Huntington Society of Peru

This society does not have a website, but inquiries can be sent to Maria Begazo Viza. To contact her, e-mail


Update: Huntington’s Disease in Peru

Author: Amanda Szerdi

The National Institute of Neurological Sciences, located in Lima, is the primary medical facility in Peru that can provide patients with a definitive Huntington’s Disease diagnosis. In June of 2011, Peru passed La Ley de Enfermedades Huérfanas or the “Rare and Orphan Illness Act.” This law provides funding for additional medical treatment and awareness initiatives for individuals affected by diseases, such as Huntington’s, that result in death or chronic disability. Federal programs and the Seguro Integral de Salud (SIS) cover the costs of appointments, transportation to clinics, treatments, and hospitalizations. Additionally, the Ministry of Health established the last day in February of each year as a “Dia Nacional de Enfermedades Huérfanas o Raras en el Peru” or a “National Rare Diseases Day in Peru.” These policies have helped to raise awareness of Huntington’s disease in Peru while striving to provide better care for patients.

Important researchers:

Miriam Velez

Dr. Miriam Velez works at the National Institute of Neurological Sciences in Lima. She is one of the primary neurologists on staff who specializes in treating Huntington’s disease and neurodegenerative disorders. She, in addition to Dr. Carlos Consentino, are doing their best to offer genetic testing as well as education about Huntington’s disease to HD patients and their family members.

Pilar Mazzetti:

Dr. Pilar Mazzetti became interested in neurology while studying to become a medical doctor at the National University of San Marcos. She has served as the Minister of Health and the Minister of the Interior in Peru. She currently works at the National Institute of Neurological Sciences in Lima, the primary facility in Peru where Huntington’s disease is diagnosed and treated. Dr. Mazzetti has worked to introduce and develop the practice of genetic testing for neurological diseases in Peru. Relatively little research had been conducted in Peru in relation to genetic diseases, and researchers such as Dr. Mazzetti face many challenges while completing their work. Research typically does not receive sufficient funding and must be completed by doctors after caring for their regular patients at the clinic. Dr. Mazzetti’s recent work has focused on the psychiatric symptoms of HD patients in Peru as well as the genetic origins of HD in Peruvian populations.

Mario Cornejo

Dr. Cornejo is the director of neurogenetics at the National Institute of Neurological Sciences in Lima. He has studied neurology and genetics in both Peru and at the University of Washington, located in Seattle. Dr. Cornejo has worked on neurogenetic studies for a variety of neurodegenerative diseases including Huntington’s Disease. He has worked with Dr. Pilar Mazzetti researching the genetic origins of Huntington’s Disease in Peruvian populations.

Source: National Institute of Neurological Sciences website <>



Web pages with information regarding health insurance and care provided by the National Institute of Neurological Sciences can be found below:

National register for individuals with rare diseases:

Registro Peruano de enfermedades raras y huerfanas: <>

Peruvian Ministry of Health:

Ministerio de Salud de Peru, pagina de seguros medicos: <>

National Institute for the Neurological Sciences website:

Sitio web para el Instituto Nacional de Ciencias Neurologicas:




A huge thanks goes out to Doctor Miriam Velez for her help in acquiring additional information regarding how patients in Canete, Peru and surrounding areas receive care for Huntington’s Disease. While living in Peru during the summer, I contacted Dr. Velez as a HOPES student researcher. She agreed to meet with me in person at the National Institute of Neurological Sciences in Lima so that I could better understand treatment options for Huntington’s Disease patients in Peru. The hospital where patients with neurodegenerative diseases are treated is not far from popular sites such as the Monastery of San Francisco and the historical district of Lima. I was accompanied by a close friend, Cindy Maximiliano, who also lives in Lima. Her help was also essential in locating the hospital and interviewing Dr. Velez.

We were extremely fortunate to briefly visit with Dr. Velez between patient visits. She described to us how her interest in neurological disorders developed as she began to study medicine. She also informed us that the Instituto Nacional de Ciencias Neurologicas is the only clinic in all of Peru that can provide the necessary genetic tests to provide a formal Huntington’s diagnosis to any individual. Similarly, she described to us the different national health insurance programs that provide transportation to the clinic and pay for the healthcare of those with Huntington’s Disease in Peru. While many policies have been developed to improve care for patients, receiving funds is often a long process that takes time. Furthermore, loosely enforced medical regulations can make it difficult to standardize care. The visit was one of the most impactful experiences during my tim




In a country of over 15 million people, there are currently only 300 reported cases of Huntington’s disease, many of them recorded in major cities such as Santiago. The Chilean Huntington Society believes there to be a higher prevalence, but there have been few efforts or resources available to collect accurate data within Chile, especially in the rural regions, in which 15% of the population resides. Further data analysis is necessary in order to assess the population affected by Huntington’s disease in Chile.

Important Figures

Dr. Claudio Hetz

Dr. Hetz, adjunct professor of immunology and infectious disease at Harvard, serves as co-director of the Instituto de Neurociencia Biomédica de la Universidad de Chile. With a team of scientists in Chile, Dr. Hetz developed a therapeutic virus that, when tested with mice, was found to be highly effective in controlling, even reducing, symptoms of HD. This treatment was applied directly to the brain, reversing nerve damage within the region. While this treatment is not available to humans, the results do indicate promise for future clinical trials (The full scientific article can be accessed here.)

Rodrigo Osorio

Rodrigo Osorio is a Chilean businessman who serves as the president of the Fundación Chilena de Huntington. Osorio founded Red Latinoamericana de Huntington, an online resource in Spanish that provides information about Huntington’s disease, with resources specific to regions of Latin America. With Osorio’s support, the first day center for Huntington’s disease patients was built last year for those living in Santiago. With the support of projects like Factor-H (see Resources in South America), Osorio and his various organizations seek to provide more basic resources to improve the quality of life for those affected by Huntington’s disease in Latin America.


The majority of Chileans reside in cities (85%), with 40% of urban dwellers living in the capital city, Santiago. Many Huntington’s disease families, that have been identified, reside in this region. In order to support these families, Rodrigo Osorio, the president of the Fundación Chilena de Huntington, recently created a day care center (El Centro Diurno Huntington) for Huntington’s disease patients, built with the support of several Huntington’s disease organizations such as CETRAM, the Agrupacion Chilena de Huntington, and two governmental organizations. After five months in operation, the quality of life for patients who attended the center improved by about 32% overall (as measured on a quality of life index). (To view Odrigo’s presentation at the 2013 World Congress on Huntington’s Disease, click here.) Many regions in Chile lack these type of basic resources for HD families, especially outside urban areas. However, it is often difficult to help these populations because they have not been thoroughly identified or located in Chile. More work in this area must be done in order to allocate resources accordingly.

Agrupacion Chilena de Huntington

This organization has multiple objectives that include providing quality information on psychological treatment, drugs, best care practices, as well as a support network of Chileans affected by this disease.

Biomedical Neuroscience Institute

BNI brings together basic and clinical neuroscientists to 1) explore the structural and functional organization of the brain, 2)produce high-level clinical research, discover new diagnostic and therapeutic approves to improve quality of life for patients with neurological/psychiatric disorders, 3) train a new generation of researchers, and 4)serve as a resource center for specialized medical professionals and the general public. (This description is a rough translation of the website description from Spanish to English)


Further Reading

“Chile.” Wikipedia. Wikimedia Foundation, n.d. Web. 18 Jan. 2014. <>.

“Estudio: Cómo Es Vivir Con Huntington.” N.p., 16 Mar. 2012. Web. 20 Jan. 2014. <>.




Due to the size of a country like Brazil, there are no definite figures of prevalence across the entire country. However, there are specific regions where Huntington’s disease has been located such as Feira Grande in Northern Brazil. Researchers identified 22 cases of HD within the population of 22,000 here. This statistic indicates a prevalence of 1 in 1,000 individuals will develop HD. This rate is due to the high amount of sibling marriages in the region.


There is very little recorded history in Brazil in respect to Huntington’s disease. The social and cultural norms within this country have emphasized secrecy when it comes to families affected by disease. Because of this stigma, scientists have only recently begun studying HD populations due to the slow process of dismantling this stigma.

Researchers, however, now have tentatively determined the origin of the disease in Brazil. Many of the genealogies show traces to Africa, as many Brazilians have Black African ancestors that were forced to South America during the slave trade. However, there does appear to be some variation within these populations, especially as families have interbred. While the genetic form of Huntington’s disease does exist here in Brazil,  it appears that African descendants brought with them a Huntington’s disease-like phenotype (HDL). More research is needed to determine the prevalence and history of HD in Brazil.

In September 2013, Brazil hosted the World Congress on Huntington’s disease. This Congress was a significant milestone for Brazilians affected by HD, as the stigma surrounding the disease has hindered social progress here for decades. The disease is often kept a secret by family members; there are no exact estimates on the population count for those affected by HD in Brazil. However, the hosts of the Congress frequently emphasized their excitement of having the Congress in Brazil, as it is a major first step in removing the social stigma.

Important Persons/Researchers

Dr. Monica Santoro Haddad

Dr. Haddad, director of the Brazilian Academy of Neurology, has actively been supporting Huntington’s disease families during her 25-year career. She has worked with over 400 families at her clinic in the Hospital das Clínicas of the University of Sao Paulo and has even treated some of these families through her private practice (Serbin, 2013).

In an interview conducted by Ken Serbin, Dr. Haddad explains how discrimination in Brazil has created major obstacles in respect to aiding those affected by HD.  The stigma carries great weight and prevents people from talking about it with non-family members. Currently, if people affected by the disease do not show symptoms or have not confirmed their genetic status with the test, they often ignore its existence. This response affects the entire HD population in Brazil because very few people are willing to participate in clinical studies, which could help lead to treatments, or ultimately, a cure. Additionally, unlike Americans, Brazilians do not often participate in causes or donate their money to non-profit organizations, causing a major shortage in funding.

Dr. Haddad hopes that the 2013 World Congress, which was held in Rio de Janeiro, promotes the idea of active participation within the Brazilian HD community, as well as increases participation numbers for clinical trials, especially Enroll-HD.



Asosociacao Brasil Huntington

The mission of the association is to provide support and guidance to families affected by the disease, as well as educates professionals about the peculiarities of the disease that should be taken into consideration.


For Further Reading

Alencar, Lopez, Figueiredo, and Monileó. “Prevalence of Huntington’s Disease in Feira Grande, a Small City in Northeastern Brazil.” Journal of Neurology, Neurosurgery, and Psychiatry (2010): 81. Print.

Burton, Adrian. “Hope, Humanity, and Huntington’s Disease in Latin America.” The Lancet Neurology 12.2 (2013): 133-34. Print.

Serbin, Ken. “At Risk for Huntington’s Disease.” : Brazil’s Big Place on the Huntington’s Disease Map. Cure HD, 2 Apr. 2013. Web. 19 Jan. 2014. <>.

Teive, Hélio. “Huntington’s Disease like Phenotype: New Date from Brazil and What We Knew between Heaven and Earth.” Arquivos De Neuro-Psiquiatria 69.3 (2011): 417-18. Web.



Columbia, the neighbor of Venezuela, does not reflect the astronomical prevalence of Huntington’s disease, as in Venezuela. However, there are several key communities experiencing the devastating effects of the disease: Magdalena, Juan de Acosta, Antioquía, Chocó, Medellín, and Bogotá. These regions differ from many other HD regions worldwide, as those affected often live in extreme poverty, which not only affects the well-being of the HD patient, but also adds to the financial, physical, and emotional strain of the family members and caregivers. One of the greatest issues with HD families in these regions is the lack of basic resources.

Cultural Significance


A lack of everyday resources is often a huge issues for those living with Huntington’s disease in Columbia. Many of these families live in extreme poverty with poorly suited living conditions. These conditions can affect quality of life as food is often scarce, water may not be suitable for drinking, and moving in and out of the home might be impossible.

Factor-H, an organization working to enhance quality of life for this living with HD in South America, is focusing on regions such as Medellín, a large urban dwelling in the central part of Columbia. Medellín is infamous for its vast network of slums and low-income dwellings. Due to financial strain on Huntington’s disease families, many of these individuals experiencing motor symptoms end up in slums. These living conditions can be extremely dangerous for those with motor symptoms as there are often many levels of stairs and alleyways one must navigate in order to make his or her way.

Families with HD in Columbia, and other similar South American countries, face different challenges than families in other countries as they are often dealing with overwhelming poverty. This makes it difficult to provide for an average family, let alone one with multiple people exhibiting signs of HD. Columbia is important in that it highlights the structural support systems required for proper medical care in this region.


Fundacion Huntington de Columbia

This foundation aims to improve the quality of life for those suffering with Huntington’s disease in Columbia. The blog serves as a resource guide and community.

Asociación Colombianos por la Enfermedad de Huntington

The Association serves as a primary resource for families and individuals affected by the disease in Columbia.

Additional Resources in South America

1. Factor-H (

A not-for-profit social project to increase awareness about people living with and affected by Huntington’s disease, and to facilitate humanitarian and medical aid to diminish the suffering of local communities in Latin America.

2. Moscovich, Mariana, Renato P. Munhoz, Nilson Becker, Egberto Reis Barbosa, Alberto J. Espay, Roberto Weiser, and Hélio A.G. Teive. “Américo Negrette and Huntington’s Disease.” Arquivos De Neuro-Psiquiatria 69.4 (2011): 711-13. Print.

A journal entry chronicling the work of Américo Negrette, an important historical figure in Huntington’s disease research.

3. Red Latinoamerica de Huntington (

Un grupo de profesionales de la salud, científicos y familiares que aportamos a la investigación en búsqueda de tratamientos efectivos para la Enfermedad de Huntington.

K. Powers 2014