Huntington's disease historical perspective
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]
Overview
Historical Perspective
It takes its name from the New York physician George Huntington who described it concisely and precisely in 1872 in his first medical paper. HD has been heavily researched in the last few decades and it was one of the first inherited genetic disorders for which an accurate test could be performed.
- c300 There is evidence that doctors as far back as the Middle Ages may have known of this disease. Along with other conditions with abnormal movements, it may have been referred to as St Vitus' dance. St Vitus is the Christian patron saint of epileptics who was martyred in 303.
- Middle Ages. People with the condition were probably persecuted as being witches or as being possessed by spirits, and were shunned, exiled or worse. Some speculate that the "witches" in the Salem Witch Trials in 1692 had HD.[1]
- 1860 One of the early medical descriptions of HD was made in 1860 by a Norwegian district physician, Johan Christian Lund. He noted that in Setesdalen, a remote and rather secluded area, there was a high prevalence of dementia associated with a pattern of jerking movement disorders that tended to run in families. This is the reason for the disease being commonly referred to as Setesdalsrykkja (Setesdalen=the location, rykkja=jerking movements) in Norwegian.
- 1872 George Huntington was the third generation of a family medical practice in Long Island. With their combined experience of several generations of a family with the same symptoms, he realised their conditions were linked and set about describing it. A year after leaving medical school, in 1872, he presented his accurate definition of the disease to a medical society in Middleport, Ohio.
- c1923 Smith Ely Jelliffe (1866-1945) and Frederick Tilney (1875-1938) began analyzing the history of HD sufferers in New England.
- 1932 P. R. Vessie expanded Jelliffe and Tilney's work, tracing about a thousand people with HD back to two brothers and their families who left Bures in Essex for Suffolk bound for Boston in 1630.
- 1979 The U.S-Venezuela Huntington's Disease Collaborative Research Project began an extensive study which gave the basis for the gene to be discovered. This was conducted in the small and isolated Venezuelan fishing villages of Barranquitas and Lagunetas. Families there have a high presence of the disease, which has proved invaluable in the research of the disease.
- 1983 James Gusella, David Housman, P. Michael Conneally, Nancy Wexler, and their colleagues find the general location of the gene, using DNA marking methods for the first time - an important first step toward the Human Genome Project.
- 1992 Anita Harding,et al. find that trinucleotide repeats affect disease severity[2]
- 1993 The Huntington's Disease Collaborative Research Group isolates the precise gene at 4p16.3.
- 1996 A transgenic mouse ([the R6 line]) was created that could be made to exhibit HD greatly advancing how much experimentation can be achieved.
- 1997 Researchers discovered that mHtt aggregates (misfolds) to form nuclear inclusions.
- "Mayo Clinic Discovers DNA Repair as Key to Huntington's Disease". Mayo Clinic. April 22, 2007. Retrieved 2007-04-23.
- The full record of research is extensive.[3][4][5]
References
- ↑ The brief history of HD on stanford.edu
- ↑ PMID 1303283
- ↑ Achievements of Hereditary Disease Foundation
- ↑ HDA research news - medical research into treatment & prevention on hda.org.uk
- ↑ Bates G, Harper PS, Jones L (2002) Huntington's disease, 3rd Edition. Oxford: Oxford University Press.