JRSM > Volume 99, Number 2 > Pp. 53

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Letters

Huntington disease

Alice Wexler

Hereditary Disease Foundation, Santa Monica, California 90405, USA

E-mail: arwexler{at}ucla.edu

Apropos Ben Harper (December 2005 JRSM¹) on Huntington disease: George Huntington (not George S Huntington, an eminent American anatomist), observed what he called `hereditary chorea' not in Pomeroy, Ohio, but in East Hampton, New York, where he grew up the son and grandson of physicians.² As a newly qualified physician, he moved to Pomeroy to begin a medical practice. It was in nearby Middleport that he gave his paper On Chorea in 1872. This history is well known.

It has also long been recognized that he was not the first to describe this disorder in adults, namely chorea accompanied by cognitive decline and emotional disturbance, leading inexorably to death.³ While most earlier writers acknowledged the hereditary transmission of this illness, they did so within the conventional mid-nineteenth century paradigm of inheritance. That is, they accepted that the disease might skip a generation before it appeared again. Huntington evoked a radically different pattern. In his description, an individual who did not develop the disease during a normal life span could not transmit it to subsequent generations. Once it failed to appear, it would not reappear. It was this insight—based on the observations of his father and grandfather and the East Hampton families—that distinguished his account from those of his predecessors, and which later investigators acknowledged as an accurate representation of the Mendelian dominant inheritance pattern of the disease.

Far from being ambitious, Huntington was remarkably modest. Though his paper had gained wide recognition by the 1890s, he remained a small-town family physician. Ironically, it was partly through the influence of the Canadian turned Oxford University professor William Osler that the malady came to be known by the `American' name of Huntington's chorea and later Huntington disease.

REFERENCES

1. Harper Ben. Huntington disease. J R Soc Med2005 :98:550[Free Full Text]

2. van der Weiden RMF. George Huntington and George Sumner Huntington. A Tale of Two Doctors. Hist Phil Life Sci1989; 11:297 -304[Medline]

3. Harper PS. Huntington's disease: a historical background. In: Bates G, Harper PS, Jones L, eds. Huntington's Disease, 3rd edn. Oxford: Oxford University Press, 2002:3 -27

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This Article Full Text (PDF) Send a Quick Comment Alert me when this article is cited Alert me when Quick Comments are posted Alert me if a correction is posted Services Email this article to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal Download to citation manager Citing Articles Citing Articles via Google Scholar Google Scholar Articles by Wexler, A. Search for Related Content PubMed PubMed Citation Social Bookmarking                      What's this?