“On Chorea”: 150 Years of the Beginning of Hope

Abstract

“On Chorea” by George Huntington was published on April 13, 1872, in The Medical and Surgical Reporter of Philadelphia. Despite being a milestone in the recognition of the disease that later would bear his name, some myths and curiosities continue to surround the history of this publication and its author. In this History, the authors pay tribute to the 150th anniversary of the publication of this iconic article. © 2022 International Parkinson and Movement Disorder Society.

The Huntington's Disease Gene Discovery

“…6,12 Although it was not the first description of the disease that now bears his name, his report clearly outlined his perspective of the disease as a familial and progressive condition, encompassing symptoms such as chorea and behavioral disturbances. 6,12 Its phenomenology was further elaborated by Jean-Martin Charcot, who, despite his insightful analysis, did not distinguish between the so-called chorea minor (Sydenham's chorea) and chorea major (Huntington's chorea). 13,14 It would gain a wider acceptance of a distinct disease with the publication of William Osler's book, On Chorea and Choreiform Affections, in 1894, after which the disease would become known as "Huntington's chorea."…”

“…George Huntington, a young doctor, made a brief report, in 1872, of patients attended by his father 6,12 . Although it was not the first description of the disease that now bears his name, his report clearly outlined his perspective of the disease as a familial and progressive condition, encompassing symptoms such as chorea and behavioral disturbances 6,12 .…”

“…George Huntington, a young doctor, made a brief report, in 1872, of patients attended by his father 6,12 . Although it was not the first description of the disease that now bears his name, his report clearly outlined his perspective of the disease as a familial and progressive condition, encompassing symptoms such as chorea and behavioral disturbances 6,12 . Its phenomenology was further elaborated by Jean‐Martin Charcot, who, despite his insightful analysis, did not distinguish between the so‐called chorea minor (Sydenham's chorea) and chorea major (Huntington's chorea) 13,14 .…”

“…Its phenomenology was further elaborated by Jean‐Martin Charcot, who, despite his insightful analysis, did not distinguish between the so‐called chorea minor (Sydenham's chorea) and chorea major (Huntington's chorea) 13,14 . It would gain a wider acceptance of a distinct disease with the publication of William Osler's book, On Chorea and Choreiform Affections , in 1894, after which the disease would become known as “Huntington's chorea.” 15 With the rediscovery of Mendel's principles of heredity in the early 20th century, geneticists as well as neurologists began to devote more attention to HD and other familiar disorders 3 6,16 . As the global eugenics movement gained prominence, there was an increased interest on HD, most often as a target for discrimination and sterilization and even, during the Nazi era in Germany, elimination through euthanizing patients with the disease 17 …”

“…5 The discovery of the HD mutation represented a significant milestone in the field of genetics and has substantially contributed to the comprehension of the disease. 6 Now, we understand HD as an autosomal dominant inherited disease caused by a CAG trinucleotide repeat expansion in the HTT gene (OMIM#613004) located on chromosome 4p16.3, and characterized by progressive motor, cognitive, and psychiatric disturbances. 4 The mapping and subsequent discovery of the gene have facilitated precise diagnostic testing and made possible presymptomatic diagnosis.…”