Before the 19th century, some HD sufferers may have been thought to be possessed by spirits or persecuted as witches, and were shunned or exiled by society. Others were more accepting; for example, the community of the family studied by George Huntington openly accommodated those who exhibited symptoms of HD. In 1846 Charles Gorman observed how higher prevalence seemed to occur in localized regions. Johan Christian Lund also produced an early description in 1860.
The first thorough description of the disease was by George Huntington in 1872. Examining the combined medical history of several generations of a family exhibiting similar symptoms, he realized their conditions must be linked; he presented his detailed and accurate definition of the disease as his first paper. Sir William Osler was interested in the disorder and chorea in general, and was impressed with Huntington's paper, stating that "''In the history of medicine, there are few instances in which a disease has been more accurately, more graphically or more briefly described''." Osler's continued interest in HD, combined with his influence in the field of medicine, helped to rapidly spread awareness and knowledge of the disorder throughout the medical community. Jelliffe's research roused the interest of his college friend, Charles Davenport, who made major contributions to the understanding of the disease in 1911, proving that it was indeed autosomal dominant and proceeding to document several of its inheritance variabilities, such as the age of onset.
Research into the disorder continued steadily through the 20th century, reaching a major breakthrough in 1983 when the US–Venezuela Huntington's Disease Collaborative Research Project discovered the approximate location of a causal gene. In 1993 the research group isolated the precise causal gene at 4p16.3, making this the first autosomal disease locus found using genetic linkage analysis.
Modelling the disease in various types of animals, such as the transgenic mouse developed in 1996, enabled larger scale experiments. As these animals metabolisms are faster and their lifespans much shorter than a humans, results from experiments are received sooner and research can be performed more quickly. The discovery that mHTT fragments misfold in 1997 led to the discovery of the nuclear inclusions they cause. These advancements and discoveries have led to increasingly extensive research into the proteins involved with the disease, potential drug treatments, care methods, and the gene itself.
Further Reading
This article is licensed under the Creative Commons Attribution-ShareAlike License.
It uses material from the Wikipedia article on
"Huntington's disease"
All material adapted used from Wikipedia is available under the terms of the
Creative Commons Attribution-ShareAlike License.
Wikipedia® itself is a registered trademark of the Wikimedia Foundation, Inc.