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Huntington’s disease has been acknowledged as a disorder for hundreds of years but the cause was only established recently. Over the years, Huntington’s disease has been named differently, according to what was understood of the condition. Terms have ranged from “chorea” which refers to the jerky, uncontrolled movements that occur, through to “chronic progressive chorea,” which reflected the observed progressive course of the disease.
The first recorded mention of this disease was made in 1842, in a letter written by Charles Oscar Waters and published in Practice of Medicine. In 1846, Charles Gorman noted that the disease seemed to occur in particular regions. In 1860, Johan Christian Lund also gave a description of the disease, in which he noted that dementia along with jerking movement disorders seemed to be particularly prevalent in a secluded area of Setesdalen in Norway.
In 1872, George Huntington gave the first complete description of the disease based on his studies of several generations of one family who exhibited similar symptoms. Huntington outlined the pattern of autosomal dominant inheritance years before Mendelian inheritance was elucidated.
Sir William Osler, who was interested in chorea and other movement disorders at the time, was impressed by Huntington’s description of the condition. Osler’s interest in the disease combined with his influence in the medical field helped awareness of Huntington’s disease to grow and by the end of the 19th century, reports on the condition had been published across many countries, with the illness gaining worldwide acknowledgement as a medical condition.
In 1911, Charles Davenport commissioned Elizabeth Muncey to conduct the first study to construct the family pedigrees of people with Huntington’s disease along the east coast of the Unites States. He then used the data gathered to elucidate the different ages of onset and the range of symptoms associated with the condition. Davenport popularized the idea that most cases of Huntington’s disease in the Unites States could be traced back to a handful of disease progenitors.
Understanding of the disease advanced over the next few decades and in 1983, the approximate location of a causal gene was discovered as a result of the US–Venezuela Huntington’s Disease Collaborative Research Project. In 1993, the group reported the exact location of the gene, at 4p16.3. This was the first autosomal disease locus to be discovered using linkage analysis.
In 1996, transgenic mouse studies and other animal models of the disease were developed and in 1997, mutated huntingtin (mHTT) protein fragments were found to misfold and the nuclear inclusions they cause were discovered. These findings have led to an extensive understanding of the proteins involved in Huntington’s disease as well as research into potential therapies and the gene mutation itself.