Neurodegenerative Disorders

At the age of 22, the year following his graduation from medical school at Columbia, George Huntington (1850–1916) made his one 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.¹ Huntington came from several generations of physicians and as a boy accompanied his father and grandfather on medical rounds in East Hampton, New York.² Huntington wrote up his observations and incorporated observations made by his father and grandfather, who offered a crucial longitudinal perspective. Although several descriptions of the disorder predated Huntington's report,³ none were as clear as his.

The paper that follows was originally read to the Meigs and Mason Academy of Medicine at Middleport, Ohio, on February 15, 1872. The first part of Huntington's brief report consists of a broad review of choreiform disorders. The discussion on therapeutics provides a glimpse of the 19th-century practice of medicine, which includes techniques such as bleeding, applied electricity, purgatives, and tonics. In the last seven paragraphs, Huntington describes the novel disorder that ultimately bears his eponym. In his writing, the essential features of this disorder were ”1. Its hereditary nature. 2. A tendency to insanity and suicide. 3. Its manifesting itself as a grave disease only in adult life.” 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'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 4.⁴ Neuropsychiatric studies of Huntington's disease may lead to breakthroughs in understanding the neuropathological correlates of psychiatric disorders. (For a review, see Lauterbach et al.⁵)