George Huntington: a legacy of inquiry, empathy and hope (original) (raw)

The story of George Huntington and his disease

Annals of Indian Academy of Neurology

George Huntington described some families with choreiform movements in 1872 in the United States of America and since then many such families have been described in other parts of the world and works on the genetics of the disease have brought new vistas in the understanding of the disease. In 1958, Americo Negrette, a young Venezuelan physician observed similar subjects in the vicinity of Lake Maracaibo which was presented by his co-worker, Ramon Avilla Giron at New York in 1972 when United States of America had been commemorating the centenary year of Huntington's disease. Nancy Wexler, a psychoanalyst, whose mother had been suffering from the disease attended the meeting and organized a research team to Venezuela and they systematically studied more than 18,000 individuals in order to work out a common pedigree. They identified the genetic locus of the disease in the short arm of chromosome 4 and observed that it was a trinucleotide repeat disorder.

A brief prehistory of Huntington's disease

Journal of Huntington's disease, 2013

In the whole range of medical terminology, there is no such olla podrida as chorea. . .-William Osler, On Chorea, 1894 Epilepsy, chorea, hysteria. .. come to us like so many Sphinxes.

A Case Study in the History of Neurology

The Neurohospitalist, 2016

We review the case of a young man who developed a constellation of symptoms and signs—bizarre behavior, seizures, abnormal movements, and autonomic instability—that evaded diagnosis at the time of presentation. We use this case to explore the way medical knowledge changes over time. Despite the dramatic advances in our understanding of neurological diseases in recent decades, physicians tend to approach diseases and diagnoses as if they were immutable. Our case reinforces how the diagnosis and treatment of disease are determined by an ever-changing historical context driven by the rapid expansion of medical knowledge. We discuss the implications of this realization and present strategies for navigating the boundaries of knowledge, both in practice and in principle.

Natural History of Huntington Disease

IMPORTANCE Understanding the natural history of Huntington disease will inform patients and clinicians on the disease course and researchers on the design of clinical trials. OBJECTIVE To determine the longitudinal change in clinical features among individuals with Huntington disease compared with controls.

1 Editorial Huntington’s Disease in Popular Culture: A Brief Historical Perspective

2016

Stairs, the narrator suggests a startling sea change in the world of Huntington’s disease (HD). “The news-papers and television and magazines have been full of Huntington’s lately, ” she observes. “Huntington’s has become a fashionable disease, displacing multiple scle-rosis and even schizophrenia in the public’s curiosity.” [1]. She refers, no doubt, to the publicity surrounding the discovery of a genetic marker for HD in 1983 and the beginning of presymptomatic genetic testing three years later [2]. The start of the Human Genome Project in 1990 and the identification of the expanded Hunt-ingtin gene in 1993 drew further attention to HD [3]. Considering that many people get their medical information from popular culture, it is useful to con-sider how HD has been portrayed on television and also in novels such as House of Stairs [4]. Why did the dis-ease suddenly start to appear at this time when it was largely absent before? What aspects were emphasized? How accurate were fictional...