Who is huntingtons disease named for

Learn more. The information on this site should not be used as a substitute for professional medical care or advice. Contact a health care provider if you have questions about your health. Huntington disease. From Genetics Home Reference. Description Huntington disease is a progressive brain disorder that causes uncontrolled movements, emotional problems, and loss of thinking ability cognition. Frequency Huntington disease affects an estimated 3 to 7 per , people of European ancestry.

Learn more about the gene associated with Huntington disease HTT. Inheritance This condition is inherited in an autosomal dominant pattern , which means one copy of the altered gene in each cell is sufficient to cause the disorder.

Other Names for This Condition Huntington chorea Huntington chronic progressive hereditary chorea Huntington's chorea Huntington's disease.

Research Studies from ClinicalTrials. References Bates GP. History of genetic disease: the molecular genetics of Huntington disease - a history. Nat Rev Genet. Huntington Disease. Clinical characteristics of childhood-onset juvenile Huntington disease: report of 12 patients and review of the literature. J Child Neurol. The book contained pages. There was a unanimous agreement about the disease entity among the experts, testifying to the clinical acumen of these two young brilliant physicians.

The study further showed that these Venezuelans were all descendants from one woman, Maria Concepcion Soto, who lived there in the early 18th century and who perhaps inherited the gene from a European sailor who in all likelihood was her putative father though others believe that the culprit was a Spanish sailor from Hamburg, Germany named Antonio Justo Doria, who lived during the 18th century and who travelled to Venezuela to buy dye for a German factory.

Nancy Wexler, a psychoanalyst from the National Institute of Neurological and Communicative Disorders and Stroke, whose mother and grandfather were victims of HD, attended the meeting and got inspired to get to the core of the problem.

Wexler's father, Milton, was a psychoanalyst and clinical psychologist and her mother was a geneticist. In , her father started the Hereditary Diseases Foundation, which introduced Nancy to scientists such as geneticists and molecular biologists and these associations ignited her interest in basic neurosciences. The Venezuelan Collaborative Huntington's Disease Society was thus formed and Nancy Wexler was appointed as the executive director and the office of the Society was located at the National Institute of Health.

They were aided by other neurologists, geneticists, anthropologists, and historians with the assumption that a genetic disease could best be understood by isolating the gene that caused it. They conducted a year-long survey in which they collected over 4, blood samples and documented 18, different individuals in order to work out a common pedigree. Since , presymptomatic and prenatal testing for HD has been available internationally and Wexler served as a director of the program that provided such facilities though she never wanted to know the results of the testing.

In , a transgenic mouse model the R6 line was created that could be made to exhibit the clinical features of HD. Similar to James Parkinson of the UK, he never held any academic or hospital position and did not contribute much to the medical literature expect for his initial description of chorea. His primary interest lay in his patients. He was a humorous and modest man who enjoyed hunting, fishing, sketching wildlife, and playing the flute and was particularly attentive toward his apparel.

He was endowed with a keen intellect and he was a witty man. He was kind and conscientious in his medical practice and much loved by his patients.

He often suffered from bouts of asthma but he continued his medical practice up to the age of 64 years. It made a most enduring impression upon my boyish mind, an impression every detail of which I recall today, an impression which was the very first impulse to my choosing chorea as my virgin contribution to medical lore.

We suddenly came upon two women, mother and daughter, both tall, thin, almost cadaverous, both bowing, twisting, grimacing. I stared in wonderment. What could it mean? My father paused to speak with them and we passed on. Then my medical instruction had its inception. From this point on, my interest in the disease has never wholly ceased. There is currently a trend to use the designation Huntington's disease rather than Huntington's chorea but the original title is still widely known, accepted and understood.

Finally, it is important to note that George Huntington should not be confused with George Sumner Huntington, who was a professor of comparative anatomy from the USA. They lived and worked at more or less the same period of time and both of them attended the College of Physicians and Surgeons of Columbia University! National Center for Biotechnology Information , U.

Ann Indian Acad Neurol. This disease causes changes in the central area of the brain, which affect movement, mood and thinking skills. This defect is "dominant," meaning that anyone who inherits it from a parent with Huntington's will eventually develop the disease.

The disorder is named for George Huntington, M. The defective gene codes the blueprint for a protein called huntingtin. This protein's normal function isn't yet known, but it's called "huntingtin" because scientists identified its defective form as the cause of Huntington's disease.

Defective huntingtin protein leads to brain changes that cause abnormal involuntary movements, a severe decline in thinking and reasoning skills, and irritability, depression and other mood changes.

Symptoms of Huntington's disease usually develop between ages 30 and 50, but they can appear as early as age 2 or as late as The hallmark symptom of Huntington's disease is uncontrolled movement of the arms, legs, head, face and upper body. Huntington's disease also causes a decline in thinking and reasoning skills, including memory, concentration, judgment, and ability to plan and organize.

Huntington's disease brain changes lead to alterations in mood, especially depression, anxiety, and uncharacteristic anger and irritability. Another common symptom is obsessive-compulsive behavior, leading a person to repeat the same question or activity over and over. Scientists identified the defective gene that causes Huntington's disease in If the condition develops before age 20, it's called juvenile Huntington's disease.

When Huntington's develops early, symptoms are somewhat different and the disease may progress faster. Medications are available to help manage the symptoms of Huntington's disease.

But treatments can't prevent the physical, mental and behavioral decline associated with the condition. Huntington's disease usually causes movement, cognitive and psychiatric disorders with a wide spectrum of signs and symptoms.

Which symptoms appear first varies greatly from person to person. Some symptoms appear more dominant or have a greater effect on functional ability, but that can change throughout the course of the disease. The movement disorders associated with Huntington's disease can include both involuntary movement problems and impairments in voluntary movements, such as:. Impairments in voluntary movements — rather than the involuntary movements — may have a greater impact on a person's ability to work, perform daily activities, communicate and remain independent.

The most common psychiatric disorder associated with Huntington's disease is depression. This isn't simply a reaction to receiving a diagnosis of Huntington's disease. Instead, depression appears to occur because of injury to the brain and subsequent changes in brain function. Signs and symptoms may include:.

In addition to the above disorders, weight loss is common in people with Huntington's disease, especially as the disease progresses. The start and progression of Huntington's disease in younger people may be slightly different from that in adults.

Problems that often present early in the course of the disease include:. See your doctor if you notice changes in your movements, emotional state or mental ability. The signs and symptoms of Huntington's disease can be caused by a number of different conditions.

Therefore, it's important to get a prompt, thorough diagnosis. In an autosomal dominant disorder, the mutated gene is a dominant gene located on one of the nonsex chromosomes autosomes.