George Huntington and the Disease Bearing His Name

George Huntington was the son and grandson of medical practitioners. He gave rise to a great interest in the origins of this disease which now bears his name.

At the age of 22, the year following his graduation from medical school at Columbia, George Huntington (1850-1916) made his contribution to medical research, publishing his report on a hereditary form of chorea in The Medical and Surgical Reporter in the April 13, 1872 issue. His publication became one of the classical descriptions of neurological disease.

Huntington dealt with hereditary chorea as a reminiscence of his childhood spent on the eastern extremity of Long Island (New York), where, as the son and grandson of physicians, he recalled patients from his father’s practice. The hereditary chorea, as he called it, was a rare but terrible disease. Its essential features, tersely noted by Dr. Huntington in three short paragraphs, included a “hereditary nature,” a “tendency toward insanity” and “its manifestation as a grave disease in adult life.” He also commented on the grotesque nature of associated abnormal movements and the lack of knowledge of both the cause and cure of the disorder.

Huntington noted that the disorder was confined to “a few families, and has been transmitted to them, an heirloom from generations away back in the dim past.” He also noted that in unaffected offspring, “the thread is broken and the grandchildren and great-grandchildren of the original shakers may rest assured that they are free from the disease.” Huntington in his description states that the first symptoms usually occur at an adult age, and he delineates the development of the chorea:

The movements gradually increase when muscles hitherto unaffected take on the spasmodic action, until every muscle in the body becomes affected (excepting the involuntary ones)…

On mental symptoms he writes:

As the disease progresses the mind becomes more or less impaired, in many accounting to insanity, while in others mind and body gradually fail until death relieves them of their suffering.

Huntington’s disease is of tremendous interest to neuropsychiatry because it has a known cause and manifests in changes in behavior, cognition, and affect. It is known to be caused by a mutation resulting in trinucleotide CAG repeats (polyglutamine) on the Huntington protein encoded on the short arm of chromosome 4. Neuropsychiatric studies of Huntington’s disease may lead to breakthroughs in understanding the neuropathological correlates of psychiatric disorders.

Reference

Neylan, T.C. (2003). Neurodegenerative Disorders: George Huntington’s Description of Hereditary Chorea. Journal of Neuropsychiatry, 15(1), 108-108. DOI: 10.1176/appi.neuropsych.15.1.108