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HD Spotlight in Asia (Founder and Director of Movement Disorders Center in Thailand)

HD Spotlight in Asia

Professor Roongroj Bhidayasiri, M.D. – Founder and Director of Movement Disorders Center in Thailand


Short Biography

Dr. Bhidayasiri’s major interest is in movement disorders and he also leads many national and international clinical research trials in Parkinson’s disease. Significantly, he leads a Parkinson’s disease registry in Thailand in collaboration with the Thai Red Cross society, the Ministry of Public Health, Bangkok Metropolitan and the National Health Security Office of Thailand. Moreover, he works as the chair of the scientific committee of the Parkinson’s disease guidelines in Thailand, the director for Chulalongkorn Comprehensive Movement Disorders Center and an associate professor for Chulalongkorn University Hospital in Bangkok. He is also the president of Thai Parkinson’s Disease Society and a visiting associate professor of neurology for David Geffen School of Medicine at UCLA.

In addition to his specific works on Parkinson’s disease, he is also the founder and director of the Chulanlongkorn Comprehensive Movement Disorders Center and has treated over 10 families with Huntington’s disease in Thailand. He recounted a story about a patient with Huntington’s disease, who wrote a letter to the Queen of Thailand for help because her family members thought she was possessed by a demon and made her go through traumatizing exorcism. For more information on Mental illness and Exorcism Across Different Cultures, please refer to our article.

Moreover, most physicians in Thailand don’t recognize the symptoms of Huntington’s disease and misunderstand them as Parkinson’s disease. His goal is to raise more awareness about Huntington’s disease and other rare motor disorders in Thailand through outreach events and educational online sources, using HOPES as a model.

Medical Degree and Training:

Dr. Bhidayasiri graduated in medicine at Chulalongkorn University in 1994. He received the membership of the Royal College of Physicians of London and Ireland in 1998 and was certified by the American Board of Psychiatry and Neurology in 2005. Awarded the fellowship of the Royal College of Physicians of London in 2008 and the Royal College of Physicians of Ireland in 2010.

Primary Research Interest/project:

His research interest lies in movement disorders, particularly the clinical aspects and advanced therapeutics of Parkinson’s disease. He has published over 70 articles in peer-reviewed journals and has served in the editor-in-chief of the Thai Journal of Neurology and also a reviewer of more than 10 international journals on neurological disorders. He also serves as a writing committee panel member of the American Academy of Neurology on the practice parameters of movement disorders.

Contact information:

To make appointment and direct inquiry to Dr. Bhidayasiri, please refer to his contact form on Thai Parkinson’s disease Clinic website.


HD Spotlight in Asia (Founder of the Parkinson’s and Movement Disorder Society in India)

HD Spotlight in Asia

Dr. Bhimsen Singhal – Founder of the Parkinson’s and Movement Disorder Society in India


Short Biography

Dr. BhimSen Singhal is the Director of Neurology at Bombay Hospital Institute of Medical Sciences in Mumbai, India. Although there are existing organizations for neurological illnesses like Cerebral Palsy, Alzheimer’s disease, and Stroke, Dr. Singhal is concerned that there were none actively advocating for the cause of Parkinson’s or other motor disorders. During the fourth annual meeting of the World Health Organization (WHO) Working Group for Parkinson’s in 2000, he founded the Parkinson’s Disease and Movement Disorder Society (PDMS) with experts from Mumbai, Kolkata, Delhi, Hyderabad, Nashik, Pune, Goa, Bhavnagar and Bengaluru pledging to help the cause. Along with its team of neurologists, psychologists, physiotherapists and various medical, allied medical and fitness professionals, PDMDS has extended its reach to cities throughout India. From the many invitations, PDMS has received worldwide recognition.

Medical Degree and Training

After attending school at Mount Abu and premedical studies at Maharaja’s College in Jaipur, he studied medicine at the Grant Medical College and Sir. J.J. Group of Hospitals in Mumbai. He obtained his medical degree 1956 and residency in 1959. After his initial training in Neurology in Mumbai, he went abroad for further training at the UCL Institute of Neurology in London. During his training in the United Kingdom, he obtained training certificates from Edinburgh and London in the early 1960s. He was made a Fellow of the Royal College of Edinburgh in 1973 and Fellow of the Royal College of London in 1985.

Professional Work

Over the course of his professional life, Dr. Singhal has trained over 200 neurologists who are now providing care across India. He has published over 200 scientific papers in both national and international books and journals. He is known for his interest and work in Parkinson’s disease and other motor disorders like Huntington’s disease.

He was the president of the Neurological Society of India (1986), president of the Indian Epilepsy Association (2000-2002), member of the WHO working group for multiple sclerosis and Parkinson’s disease, regional director for the World Federation of Neurology (2005-2009), and chairperson of the Asian Section of The Movement Disorder Society (2009-2010). In order to update neurologists on recent advances in neurology, Dr. Singhal created the ‘Neurology Foundation’ in 1996, and holds ‘Neurology Update’ meetings every alternate year.

Dr. Singhal established the Parkinson’s Disease and Movement Disorder Society in 2001, which he now serves as Honorary Secretary. This society has been acknowledged as a model for developing countries by organizations like the World Parkinson’s Congress and the World Federation of Neurology.

Contact Information

To make appointment and direct inquiry to Dr. Singhal, please refer to his contact form on Parkinson’s Disease and Movement Disorder Society’s contact form.



HD in China



There is limited information on Huntington’s disease in China. However, in 1992, researchers at the Chinese University of Hong Kong published Huntington’s disease in China: A hypothesis of its origin. As with many other non-European populations, HD’s origins in China’s coastal provinces indicate that it likely spread as a result of interactions between European and Chinese traders.

Between 1984 and 1991, the prevalence of HD in Hong Kong was 3 to 7 patients per million. This population appeared to be predominately males who experienced an earlier disease onset. The first instances of HD were noted in 1959 and again in 1962. Historically, war and natural disasters disrupted living patterns and caused mixing of populations that increased the prevalence of HD outside of the original coastal provinces. However, compared to other regions, the spread of HD in China is rather limited and has remained predominately in these coastal regions.

This research is over 20 years old. More comprehensive statistics are needed to understand the true prevalence of the disease, particularly the prevalence of HD in women as this population is most likely underreported due to their status in society in the 1980’s and 1990’s.


Chinese Huntington’s Disease Network

The Chinese Huntington’s Disease Network was launched on December 10, 2011 in Shanghai. This organization seeks to help the estimated 300 affected families in the region by increasing awareness about HD and improving quality of care.

For Further Reading^

Leung, C. M., et al. “Huntington’s disease in Chinese: a hypothesis of its origin.” Journal of Neurology, Neurosurgery & Psychiatry 55.8 (1992): 681-684.


HD in Asia: Overview

HD in Asia: Overview

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


The prevalence of HD in the West is estimated at five to ten people per 100,000 people. However, in Asia, the prevalence of HD is approximately one tenth of the HD prevalence in Western population. The prevalence is 0.4 per 100,000 people in Hong Kong and 0.65 per 100,000 in Japan. In India, there are case reports from Punjab and northern India and until 1990, there were 69 case reports of HD in China. In Southeast Asia, the epidemiology data for HD consists mainly of case reports with HD in Singapore being reported from a Chinese family and second-generation Indian families. There is no accurate data obtained from Thailand, Indonesia and Philippines.

The reason for this wide variation in HD prevalence in different ethnic communities is unclear. Some people advocate a European origin for the mutation, suggesting that migration and inter-racial mixture of genes led to a lower prevalence in non-European countries. As mentioned in the HD in Hong Kong section, it has been proposed that the prevalence of HD in Hong Kong maybe attributed to a European origin. This assumption derives from the fact that the ancestors of the families with HD can be connected to coastal provinces with histories of strong colonial presence. Hence, it has been hypothesized that HD in other Chinese related countries may also have originated from a common Caucasian ancestry by ways of migration.


HD Spotlight in Asia (Rehabilitation Physician in Thailand)

HD Spotlight in Asia

Professor Areerat Suputtitada, M.D. — Leading Rehabilitation Physician in Thailand

AreeratShort Biography:

Dr. Areerat Suputtitada is Professor of Rehabilitation Medicine, full time working faculty at Chulalongkorn University and King Chulalongkorn Memorial Hospital in Bangkok, advisor of the editorial board of Thai Rehabilitation Medicine Journal, and an educational board member of Exercise and Health Promotion in the Ministry of Public health. She received 15 national awards, 3 international awards, and published more than 20 international and 30 national articles in the areas of her experts including neurological rehabilitation, spasticity and dystonia, gait and motion, and pain. She has also been invited to lecture and act as a chairman for over 70 international conferences. Dr. Suputtitada has been elected and appointed to important positions in the International Society of Physical and Rehabilitation Medicine (ISPRM) such as the Chair of Women and Health Task Force and International Exchange Committee. Moreover, she is the youngest physician to have won the Fund Award for Professorship in Thailand.

Medical Degree: Faculty of Medicine, Siriraj Hospital, Mahidol University, Bangkok, Thailand

Thai Board of Physical Medicine and Rehabilitation: Chulalongkorn University, Bangkok, Thailand

Training Certificates: Mount Sinai Medical Center, Colorado Neurological Institute, Vienna University Hospital, Western IRB, Gait and Clinical Movement Analysis Society in London, the Association of Pain Therapy in Switzerland, Australian Institute of Ultrasound, American Academy of Physical Medicine and Rehabilitation, Rehabilitation Engineering and Assistive Technology Society of North America, and Collaborative Institutional Training Initiative at the University of Miami.


Primary Research Interest/project:

Her areas of expertise include neurological rehabilitation, spasticity and dystonia, clinical neurophysiology, pain, Botulinum toxin, therapeutic exercise and rehabilitation engineering. She treats a variety of patients, including patients with motor disorders like Parkinson’s disease and Huntington’s disease. Examples of her research includes:

  1. Cueing Device For Improving Gait Ability in Parkinson’s disease and Other Motor Disorders
  2. Extracorporeal Shock Wave Therapy (ESWT) For HD Patients Rehabilitation

Exorcism and Mental Illness Across Different Cultures

Huntington’s Disease (HD) is a rare inherited disorder that breaks down nerve cells in the brain over time, affecting the patient’s behavior and movement. In its early stages, HD symptoms can vary among patients. Mood swings are a common early symptom and HD patients may become depressed, irritable, apathetic, or angry. In some cultures, psychological disorders that also have a motor component, such as Huntington’s Disease (HD), Tourette syndrome and schizophrenia, can result in the individual being labeled as possessed. The notion of possession, in which a person becomes demonized, possessed, or controlled by a demon, was present in many ancient religions and is still present in many beliefs today. To drive out the demons or evil spirits, family members or religious figures turn to exorcism. An exorcist is typically someone of religious faith who is thought to be able to channel benevolent powers and cast out evil spirits from otherwise good people. The concept and practice of exorcism crosses cultural and historical boundaries.

In Catholicism, priests undertake prayers for repentance, divine intervention and protection before engaging in ceremony. The patients then undergo counseling to enhance their spiritual life after the ritual. Buddhist exorcism involves prayer and meditation to persuade the spirit to leave the body. Taoists mainly use chanting, praying, and physical movements to drive away the evil spirits. Among Muslims, the belief of demon possession is not universal. Mr Nazirudin Mohd Nasir, head of the Office of the Mufti at the Islamic Religious Council of Singapore, said, “We believe there are unseen creations of God such as the ‘jinn’ or spirits.” However, he added that although, “One could possibly be possessed by the unseen, but one should not simply blame everything on this. In fact, some people do not believe in possession, although they believe that the unseen exist.” For Muslims who do believe, however, he said that there were those in the community who specialized in the exorcism ritual.

As a case study for practiced exorcism, this paper will examine North Thailand Hill tribe Shamans. There are Lahu, Lisu, Karen, Hmong and Lawa hill tribes. Among these hill tribes of Thailand that migrated from southern China, Laos and Burma, Lisu hill tribal villagers believe in exorcism and possession. According to their belief, there are two beings that can take possession of a person, including the ‘phi pheu’ or tigers as well as ‘phu seu’ or vampires. The hill tribe believes that ‘tai’ or black magic that is implanted in the body of the afflicted person by another person causes many of the illnesses they experience. This object must then be sucked out by the shaman in order for the person to be cured.

While the process of exorcism varies across many cultures, the act of restraining the patient is common; and these restraints can sometimes lead to injuries. The illusion that exorcism works on people with a disease experiencing supposed symptoms of possession can be attributed to the placebo effect. However, there are 370,000 reported cases of people killed during exorcism and another 310,000 reported injuries. These numbers are an underestimate as there are still unreported fatal cases in many rural areas of developing countries where mental illness is stigmatized. Scientifically, demonic possession is not a valid psychiatric or medical diagnosis recognized by either the DSM-V or ICD-10. Patients with symptoms associated with physical or mental illness can be mistaken for victims of demon possession. For example, a shaman beat a mother of two from Thailand with a dried stingray tail because the family had suggested it as a way to rid of her mental illness (later revealed to be a form of motor disorder). Despite her efforts to flee, the shaman abducted her and continued until she died. Even though the shaman was later on charged with murder, this case study shows that the process of exorcism can be fatal and victims can been bound, beaten, burned, starved, and even tortured.

In conclusion, it is difficult to come by documentation of any outcomes of official exorcisms, harmful or beneficial. Exorcisms are supposed to be low-key. Although they are not necessarily a secret, exorcisms are not performed in public or in front of press representatives. However there have been reported cases that victims of exorcisms, whom the officials believe to have mental illnesses, had past away from the rigorous ritual. Therefore, it is imperative to raise awareness about treatments for mental disorder in areas where exorcism is prevalent and mental illness is a social stigma.


More information:



A Case Study: Pregnancy and HD in India

The family members of the HD patients have to cope with the knowledge that the patient will suffer from mental and physical deterioration while accepting the fact that the HD patients’ children are at risk of getting the disease. The risk of develop­ing HD in an offspring of an affec­ted parent is 50%. One such case of full-term pregnancy is reported. It merits atten­tion because of rarity of HD and lack of reports on it from Central India. Therefore, a careful study of family history is indispensable in the assessment and understanding of HD as it enables the prediction to be made for the fetus during pregnancy in 90% of cases. The case report also emphasizes the need of detecting DNA polymorphism by chorion biopsy or amniocentesis to avoid transmission of HD gene to further generations despite of ethical issues, which may be raised.

A Case Report

A 35-year-old Indian woman with history of amenorrhea or absence of menstruation of 9 months and labor pains was admitted in pri­vate hospital. Her pulse was 80 per min, blood pressure 110/80 mm Hg she had no edema. The abdomen examination showed height of uterus to be 36 weeks, tense, tender with moderate ute­rine contractions. Fetal heart was recorded to be normal. She had characteristic involuntary choric movements. The diagnosis of HD was established due to presence of chorea and history of progres­sive dementia and emotional disturbance supported by a positive family history. Her paternal grandmother suffered and died of the same symptoms. The grand­mother had one daughter and four sons, of which the daughter and one son have no symptoms whereas three sons suffered. The age of onset of the patient’s father was at the age of 38 years and death occurred 12 years after onset. In the second son, on­set was at the age of 35 years and he committed suicide after suffer­ing for 10 years. The third son is 40 years of age and still alive but with same symptoms. The patient has three brothers and one sister all less than thirty years of age without any symptoms. The onset of symptoms in the patient was at the age of 30 years. She has three daughters, 17 years and 15 years and a son 13 years old. She delivered normally a healthy male child. The postpartum period was uneventful. The doctors suc­ceeded in convincing her husband to undergo vasectomy.


As the case denotes, normal pregnancy and delivery is possible in a patient suffering from HD. As the offspring are at a 50% risk of inheriting the disease, prediction of this risk is essential. The identi­fication of a deoxyribonucleic acid (DNA) sequence G-8 on chromo­some 4 showed close genetic linkage to HD. Over the years availability of new DNA markers more tightly linked to the HD locus than the G-8 probes has improved predictive accuracy for both pre-symptomatic and prenatal exclusion testing. Pre­natal exclusion testing can be an ideal option for high-risk indivi­duals wishing to procreate as HD trait shows vertical transmission through successive generations. Non-availability of such predictive tests in India and the added economic restrain are the limita­tions. According to a study by Harper on Genetic Testing and Family Structure shows that only when a specific test for the HD gene itself is available it may be feasible to make a prediction for an isolated subject without studying the family unit. Meanwhile families are likely to benefit from prediction along family structures. In conclusion, pre symptomatic and prenatal ex­clusion testing by genetic counseling definitively predicts the risk of HD. But the family structure will remain crucial for prediction, as the identification of HD gene in Central India seems to be some way away.

Here are some of the resources for genetic counseling in India:

  • Genetic And Mental Retardation Clinic
    of Paediatrics, AIIMS, New Delhi-110029
    Phone number: 26588500
  • Genetics Cell, Sri Ramachandra Medical College (SRMC) Porur, Chennai, India
  • Surendra genetics Laboratory, Lloyd’s road, Royapettah, Chennai,India
  • Genetics department, Manipal Hospital, Karnataka.


Gusella, James F., Nancy S. Wexler, P. Michael Conneally, Susan L. Naylor, Mary Anne Anderson, Rudolph E. Tanzi, Paul C. Watkins, Kathleen Ottina, Margaret R. Wallace, Alan Y. Sakaguchi, Anne B. Young, Ira Shoulson, Ernesto Bonilla, and Joseph B. Martin. “A Polymorphic DNA Marker Genetically Linked to Huntington’s Disease.” Nature 306.5940 (1983): 234-38. Web.

Harper, P. S., and M. Sarfarazi. “Genetic Prediction and Family Structure in Huntington’s Chorea.” Bmj 290.6486 (1985): 1929-931. Web.

Wasmuth, John J., Jeffrey Hewitt, Barbara Smith, Denis Allard, Jonathan L. Haines, Douglas Skarecky, Eric Partlow, and Michael R. Hayden. “A Highly Polymorphic Locus Very Tightly Linked to the Huntington’s Disease Gene.” Nature 332.6166 (1988): 734-36. Web.


La enfermedad de Huntington en Sudamérica

Sudamérica es una región rica en la historia de la Enfermedad de Huntington (EH en español o HD en inglés). Dentro de este continente, la investigación ha sido muy importante y necesaria para descubrir el gen que causa la EH.  Esta investigación se puede atribuir principalmente a que la concentración más grande de las familias afectadas en el mundo vive en esa área. A pesar de la importancia que representan las poblaciones de Sudamérica para la investigación de la enfermedad, se carece de recursos suficientes para los pacientes de dicha región.

Esta sección de Global HD tiene como objetivo destacar a aquellos países en Sudamérica que tienen una historia y una significancia en relación al contexto de la Enfermedad de Huntington.


La visión de conjunto^

La enfermedad Huntington (EH) es el trastorno poli nucleótido más prevalente en Sudamérica. En Venezuela, la prevalencia de la enfermedad es 1 en 20,000 personas.  Sin embargo, Maracaibo, uno de los regiones de los lagos más al norte del país, tiene una prevalencia de 7 casos entre 100 personas. Como resultado de esto, Venezuela es un país muy importante porque hay muchas personas en Maracaibo que pueden avanzar la investigación en relación a esta enfermedad.

La historia^

Americo Negrette nació en Venezuela en 1923 y estudió medicina en la Universidad Central de Venezuela. En 1942, mientras instruía en la región San Francisco de Maracaibo, Negrette se percató de pacientes caminando entre las calles con andares extraños, a quienes las personas de la localidad se refieren como “Santiveros.”  Negrette identificó así la enfermedad hereditaria de Huntington, también conocida como “el mal de San Vito.” En 1955, Negrette presentó sus observaciones clínicas al VI Congreso de las Ciencias Médicas en Venezuela. En 1963, dedicó dos secciones de su libro a la enfermedad y su expresión en sus pacientes.

Años más tarde, Nancy Wexler, una científica americana, y su equipo empezaron a colaborar con las familias afectadas de Maracaibo. Como resultado de los avances en la investigación del ADN recombinante, el “equipo de Gene Hunter,” como se les llamaba, fueron capaces de iniciar un estudio en el que se crearon las genealogías de las familias de la vasta red de los pacientes de la región.

Debido a que el registro de la genealogía fue tan completa, los investigadores fueron capaces de descubrir que todos los residentes del Lago Maracaibo tienen un antepasado común, María Concepción Soto, quien llegó en la región durante el siglo XIX  Ella es considerada la “fundadora” de aproximadamente 20,000 descendientes en riesgo de contraer la enfermedad que se pueden remontar de ella.

Con estos datos, el equipo fue capaz de reducir el lugar específico del gen de la enfermedad de Huntington en 1983. Este descubrimiento fue muy importante, no sólo para buscar una cura, sino que, además, para comprender de la herencia genética.

Los recursos^

Casa Hogar Amor y Fe^

La Casa Hogar Amor y Fe fundada en 1999 gracias a las familias de Maracaibo quienes han contribuido a los avances científicos en la investigación de la enfermedad Huntington. Como resultado de la pobreza y la falta de los recursos en el región, Casa Hogar sirve como un sistema de apoyo para las personas afectadas por la enfermedad.

Para más información sobre la casa, visita

Asociación Venezolana de Huntington^

La Asociación Venezolana de Huntington tiene muchos recursos e información en relación a la enfermedad Huntington. El sitio es en español y su enfoque es sobre los tratamientos, las conexiones médicas y las clínicas para los venezolanos.

Para más información, visita


La visión de conjunto^

Perú tiene la segunda población más grande de pacientes con la enfermedad de Huntington  en Sudamérica. Este país cerca del océano pacifico tiene un significante potencial para la investigación epidemiológica, pero no han habido muchas inversiones en el pasado. Similar a otras regiones afectadas en Sudamérica, Perú lucha con la provisión de los recursos básicos a las personas afectados por la Enfermedad de Huntington. Mientras que han sido pocos los investigadores que han iniciado la investigación en esta región, el desarrollo se encuentra en las etapas iniciales.

La historia^

La primera familia identificada con la enfermedad fue descubierta en 1952 en la zona norte del Perú. En 1980, se identificaron los primeros casos de la EH en Cañete. Este poblado, al sur de la capital del Lima, Perú tiene una prevalencia de 45 casos  en cada 100,000 personas. Es la segunda concentración de población más grande en Sudamérica. Los científicos han descubierto que la prevalencia se debilita a medida que se va alejando de Cañete. Por lo tanto, mientras más lejos  se encuentre de Cañete, encontramos menos casos de pacientes con EH.

Investigadores relevantes^

Dr. Carlos Cosentino^

Dr. Carlos Consentino es un investigador peruano que está estudiando la región de Cañete ha investigado su prevalencia y comenzó con una pequeña cantidad de pruebas clínicas y proyectos de investigación para la enfermedad en el país entero. Mientras los recursos en el Perú son escasos para las personas con la enfermedad, el Dr. Cosentino hace su mejor esfuerzo para proporcionar servicios tales como el asesoramiento genético y el apoyo a familias con personas afectadas por la enfermedad.

Los recursos^

La sociedad Huntington de Perú^

Este sociedad no tiene un sitio, pero puede enviar las preguntas a María Begazo Viza cuyo , e-mail es


La visión de conjunto^

En un país con más de 15 millones de personas, hay sólo 300 casos reportados con la enfermedad de Huntington, la mayoría se encuentran en las ciudades grandes como Santiago. La Agrupación Huntington de Chile cree que hay una prevalencia más alta, pero hay pocos esfuerzos o recursos disponibles para recopilar datos precisos dentro Chile, específicamente en las regiones rurales, en donde el 15% de la población vive. Por lo tanto, se necesita mayor análisis de datos para evaluar la población afectada por la enfermedad en Chile.

Las personas importantes^

Dr. Claudio Hetz^

Dr. Hetz, un profesor de inmunología y enfermedades infecciosas de Harvard, sirve como un co-director del Instituto de Neurociencia Biomédica de la Universidad de Chile. Con un equipo de científicos chilenos, el Dr. Hetz desarrolló un virus terapéutico que al ser examinado con ratones, se encontró ser muy efectivo en el control e incluso en la reducción de los síntomas de la EH. Este tratamiento se aplicó directamente al cerebro para revertir el daño del nervio en la región. Pese a que este tratamiento no está disponible en humanos, los resultados indican un futuro prometedor para futuras pruebas clínicas. (Si desea leer el artículo científico completo se puede acceder aquí).

Rodrigo Osorio^

Rodrigo Osorio es un emprendedor chileno, presidente de la Fundación Chilena de Huntington y fundador de la Red Latinoamericana de Huntington, un recurso, este sitio está en Español que proporciona información sobre la enfermedad, con recursos específicos de las regiones de Latinoamérica. Con el apoyo de Osorio, fue posible la construcción del primer Centro Diurno para enfermos con Huntington que viven en Santiago. Con el apoyo de los proyectos como Factor-H (Ver: Los Recursos en Sudamérica), Osorio y sus organizaciones varias tratan de proporcionar más recursos básicos para mejorar la calidad de vida para las personas afectadas por la enfermedad de Huntington en Latinoamérica.

Los recursos^

La mayoría de chilenos viven en las ciudades (85%), de los cuales un 40% de los habitantes urbanos viven en la capital, Santiago.  Muchas familias con la enfermedad, que han sido identificadas viven en esta región. Para apoyar a estas familias, Rodrigo Osorio recientemente creó el Centro Diurno Huntington para los pacientes afectados por la enfermedad, construyendo esto con el apoyo de muchas organizaciones de Huntington como CETRAM, la Agrupación Chilena y dos organizaciones gubernamentales. Después de cinco meses en ejecución, la calidad de vida de los pacientes que asistieron al centro mejoraron cerca de un 32% (en general, como la medida del índice de la calidad de vida). (Para ver la presentación de Rodrigo al Congreso Mundial de la enfermedad Huntington en 2013,  haga clic aquí). Sin embargo, muchas regiones en Chile carecen de este tipo de recursos básicos para las familias, específicamente fuera de las áreas urbanas. Sin embargo, es complejo ayudar o acceder a estas poblaciones porque no han sido bien identificados o localizadas en Chile. Por lo tanto, se debe desarrollar un trabajo más exhaustivo en esta área para así poder asignar los recursos que correspondan.

Agrupación Chilena de Huntington ^

Esta organización tiene como objetivo el suministrar información de calidad sobre los tratamientos psicológicos, medicamentos y tratamientos  y la mejora de prácticas así como el prestar del red de apoyo para los chilenos afectados por esta enfermedad.

Instituto de Biomédica y Neurociencia ^

Aplicando una estrategia integrada y multidisciplinaria el BNI tiene por objetivos: (i) explorar la organización estructural y funcional del cerebro en condiciones normales y patológicas, tanto a nivel de organismos completos como a nivel celular, (ii) capacitar y organizar a una nueva generación de investigadores y clínicos en un entorno transdisciplinario único, (iii) producir investigación clínica de alto nivel y transferir sus resultados a la sociedad mediante el descubrimiento de nuevos enfoques diagnósticos y terapéuticos para mejorar la calidad de vida de los pacientes neurológicos o con trastornos psiquiátricos, y (iv) convertirse en un centro de recursos para profesionales clínicos especializados y el público en general.

Lectura complementaria^

“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. <>.


La visión de conjunto^

Como resultado de un país de tan grande extensión como Brasil, no hay números definitivos en relación a la prevalencia de la enfermedad en el país. Sin embargo, hay regiones específicas donde la enfermedad de Huntington ha sido localizada en el sector de Feira Grande en el norte de Brasil. Los investigadores identificaron 22 casos de HD adentro de la población de 22,000 este país. Este número indica una prevalencia de 1 entre 1000 individuos que desarrollará la EH. La prevalencia de EH es resultado del alto número de matrimonios entre hermanos en esta región.

La historia^

No hay un gran registro sobre la historia de Brasil respecto a la enfermedad de Huntington. Las normas culturales y sociales dentro de este país han sido enfáticas a la hora de mantener el secreto dentro de las familias cuando se refiere a la EH. Debido a este estigma, los científicos sólo han comenzado a estudiar las poblaciones como un resultado del lento proceso de desmantelamiento de dicho estigma.

Los investigadores, sin embargo, ahora han determinado – tentativamente- el origen de la enfermedad en Brasil. Muchas de las genealogías muestran rastros de África, dado que muchos brasileros tienen ancestros de negros africanos que fueron forzados a venirse a Sudamérica durante el periodo de esclavitud. Sin embargo, sí parece haber una leve variación dentro de estas poblaciones, especialmente debido a la mezcla entre familias. Ahora bien, pese a que la forma genética de la enfermedad existe aquí in Brasil y pareciera que fueron los descendientes africanos quienes trajeron consigo un fenotipo similar a la EH (HDL). Se requiere de mayor investigación para lograr determinar la prevalencia y la historia de la EH en Brasil.

En Septiembre del 2013, Brasil organizó el congreso mundial de la enfermedad Huntington. Este congreso fue un hito importante para los brasileros afectados, debido principalmente  al estigma que rodea la enfermedad que ha obstaculizado el desarrollo social en la región por décadas. Sin embargo, los anfitriones del congreso destacaron constantemente su emoción al llevar a cabo el congreso en Brasil como una etapa importante en vías de la eliminación del estigma social.

Las personas importantes^

Dr. Monica Santoro Haddad^

Dr. Haddad, director de la Academia Brasileña de Neurología, ha estado apoyando activamente las familias afectadas durante 25 años de su carrera. Ha trabajado con más de 400 familias en el Hospital das Clínicas de la Universidad Sao Paulo  y tratando a un menor porcentaje de éstas en su práctica privada (Serbin, 2013).

En una entrevista que se llevó a cabo para Serbin, Dr. Haddad explica como la discriminación en Brasil ha generado grandes obstáculos para ayudar a las personas afectadas por la EH. Como ya mencionamos anteriormente, el estigma tiene un gran peso en lo que previene a las personas afectadas por la enfermedad a hablar de ésta con personas que no son parte de sus familias. Ahora, si una persona afectada no muestra síntomas o si no han confirmado su estatus genético con un examen, ignoran su existencia. Esta repuesta afecta a la población entera con EH en Brasil porque sólo hay un grupo pequeño de personas que están dispuestas a participar en los estudios clínicos, que puede ayudar a conducir a tratamientos y finalmente, una cura para la enfermedad. También, y a diferencia de lo que sucede en los E.E.U.U., los brasileños no participan activamente por la causa ni donan dinero a las organizaciones sin lucro, causando una gran escasez en el financiamiento.

El Dr. Haddad espera que el Congreso mundial 2013, que se celebró en Rio de Janeiro, promueva la idea de la participación al interior de la comunidad Brasileña afectada así como que aumenten los números de participación para las pruebas clínicas, específicamente ENROLL-HD.

Los recursos^

Asociación Brasileña de Huntington ^

La misión de esta Asociación es la de proporcionar apoyo directo a las familias afectadas, así como educar a los profesionales sobre las peculiaridades de la enfermedad que deben tomarse en consideración.

Lectura complementaria^

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 Neurology12.2 (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.


La visión de conjunto^

Colombia no refleja la prevalencia astronómica de la enfermedad como es el caso de su país vecino, Venezuela. Sin embargo, hay varias comunidades claves donde se han experimentando los efectos devastadores de la enfermedad: Magdalena, Juan de Acosta, Antioquía, Chocó, Medellín y Bogotá. Estas regiones difieren de muchas otras regiones en el mundo, debido a que los afectados a menudo viven en extrema pobreza, que no sólo afecta el bienestar del paciente, sino que a esto se suma la tensión financiera, física y emocionalmente, para los miembros de las familias y los cuidadores. Así, una de las principales problemáticas de las familias en estas regiones es la falta de los recursos básicos.

El significado cultural^

La escasez de los recursos básicos se torna en un gran problema para las personas que viven con la enfermedad en Colombia. Muchas de las familias viven en extrema pobreza y con malas condiciones de vida. Estas condiciones pueden afectar la calidad de vida, tales como la escasez de alimentos, de agua potable y la dificultad de acceso y salida de sus viviendas.

Factor-H es un organización que busca mejorar la calidad de vida de los pacientes enfocándose principalmente en regiones como Medellín, una gran cuidad urbana en la parte central de Colombia. Medellín se caracteriza por sus vastas redes de tugurios y viviendas de bajos ingresos. Debido a la presión financiera  sobre las familias de Huntington, la mayoría de aquellos que experimentan los síntomas motores a menudo terminan en barrios marginales. Estas condiciones habitacionales pueden ser muy peligrosas para aquellos con estas condiciones motores, por ejemplo, la extensa cantidad de callejones, niveles y escaleras que una persona necesita atravesar para hacer su propio camino.

Las familias con la EH en Colombia, así como en otros países similares en América del Sur, enfrentan diversos retos diferentes a los de las familias en otros países del mundo dada las condiciones de extrema pobreza. Si esto dificulta la capacidad para proporcionar la ayuda necesaria para una familia promedio, mucho menos en aquellas familias con varias personas que presentan síntomas de la EH. Por lo tanto, se hace imperativo destacar la importancia de los sistemas de soporte estructural que son necesarios para una adecuada atención médica en este país.

Los recursos^

Fundación Huntington de Colombia^

Esta fundación busca mejorar la calidad de vida para las familias con Huntington en Colombia. Este blog sirve como un recurso para la comunidad.

Asociación Colombianos por la Enfermedad de Huntington^

Esta asociación sirve como un recurso primario para las familias e individuos afectados para la enfermedad en Colombia.

Lectura complementaria^

1. Factor-H (

Un proyecto social sin ánimo de lucro que persigue aumentar la conciencia sobre las personas que conviven con la enfermedad de Huntington o están afectadas por la misma, así como facilitar ayuda humanitaria y médica para disminuir el sufrimiento de las comunidades locales en América Latina.

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.

Una entrada de diario que relata la obra de Américo Negrette, una figure hisórica importante en la investgacion de la enfermedad Huntingon.

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

Muchas gracias a los editores por su ayuda: María Jesús Osorio Lafontaine y Erica Fernandez Zamora

Si tiene algunas recomendaciones, visita nuestra página de contacto aquí.

K. Powers 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


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


HD in South America

Para un 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



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.


Asosocioa 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