Huntington’s Disease, HD, or Huntington’s Chorea as it is sometimes known, is a genetic disorder whose symptoms usually appear in patients between the ages of 30 and 45. The onset is characterized by jerky, uncoordinated body movements and a decline in some mental abilities. Death usually occurs around 15 to 20 years after diagnosis.
The disease itself will not cause death but the associated complications which negatively impact life expectancy, will do so. These complications include pneumonia, heart failure, choking, dehydration, malnutrition, physical injuries, and severe depression which may result in suicide
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The term “chorea” comes from Greek and Latin words meaning a chorus or a group of dances. The term was used for movement disorders noted in the Middle Ages.
Paracelsus, (1493-1541) an alchemist born in Switzerland, was the first to coin the term “chorea”. The complaint is now recognized as an early symptom of Huntington’s Disease.
In the 1630s, colonists in New England used names such a “St. Vitus Dance” or “that disease” to describe HD symptoms.
In the 1690s many of the accused witches in Salem are now believed to have been victims of this disease which accounted for their odd movements and behaviours. The colonists thought them to be possessed by the devil.
Huntington’s Disease was mentioned in medical literature for the first time in the 1840s. Three young doctors writing in three different countries, England, Norway and the United States, described people afflicted with involuntary movements and mental disturbances inherited from a similarly affected parent.
In 1872, Dr. George Huntington wrote a landmark paper accurately describing the disease and stressing its hereditary nature. He was the third generation in a family medical practice in Long Island, New York. From the doctors’ combined experience of a family with the same symptoms in each generation, he documented his observations and the disease received his name in honor of his work.
In 1902, Dr. Smith Ely Jelliffe (1866-1945), an American psychiatrist, began studying the history of HD patients and he published several articles over the next few decades.
In 1932, Dr. P.R. Vessie traced about 1,000 people with HD back to two brothers and their families who left England in 1630 bound for Boston, Massachusetts.
In 1979, the US-Venezuela Huntington’s Disease Collaborative Research Project began as an in-depth study which formed the basis for the discovery of the Huntington gene. It was conducted in small isolated fishing villages where there was a high incidence of the disease.
In 1983, the general location of the gene was located by James Gusella, David Housman, P. Michael Conneally, Nancy Wexler and their colleagues, working at the Centre for Human Genetic Research, Massachusetts General Hospital, Boston.
In 1992, Anita Harding, a British neurologist (1952-1995) identified a factor which influenced the severity of the disease.
In 1993, Huntington’s Disease Collaborative Research Group isolated the precise gene, the abnormality of which causes the disease.
In 1994, a transgenic mouse was created which can be made to exhibit HD. This makes drug tests to alleviate symptoms and searches for a cure less complicated, and greatly reduces the necessity for human trials in early stages of testing.
Extensive research to control and cure Huntington’s Disease continue up to and including the present time.
Animal trials are being conducted with the goal of finding a cure, or at least arresting the progression of the disease, and alleviating symptoms. Researchers are experimenting with stem cell implants and gene silencing techniques. New drugs are being developed and tested which researchers are optimistic will produce positive benefits.
To receive a diagnosis of Huntington’s disease is a devastating and life-altering event. However with the rapid progression of medical knowledge and technology in the recent past, today’s sufferers have a greater hope than ever before that a cure will be found in their lifetime.
Scientists continue to work diligently to erase this disorder from human gene pool forever.
