Episode 37. Chaos - The Erratic Choreography of Huntington's Disease

In this episode, I explore one of the most visually dramatic neurological disorders, along with its diverse and debilitating symptoms. I explored the history of the disease, describing how George Huntington came to know about it, and how his paper documenting the involvement of a Long Island pedigree in New York served as a landmark in the documentation of the disease. The podcast also used this pedigree to illustrate the strong familial tendency of Huntington’s disease. I

use graphic patient anecdotes, including that of musician Woody Guthrie, to illustrate the onset and progression of the disease, its strongly familial inheritance, and the disruption it causes to relationships and families. I similarly explore such patient memoirs as that of Melanie Pearson, titled Somebody Up There Likes Me, of Sandy Sulaiman, titled Learning to Live with Huntington's Disease, and of Erin Paterson titled All Good Things, to demonstrate the transformation in personality that the disease brings about, it impact on individuals, families and the healthcare system, and the turmoil of undergoing genetic screening to determine the risk of the disease, and the aftermath of this.

I also trace the history of its scientific understanding, from its first documentation by neurologist George Huntington, to the efforts of people such as psychologist Nancy Wexler who led the efforts to identify the gene responsible, a quest that started by investigating a large pedigree in several Venezuelan villages around Lake Maracaibo. I explore the characteristics of the gene, and the unusually transmission of the genetic mutation.

The clinical perspective of the podcast explores the motor manifestations of the disease which go beyond chorea to include a host of other movement disorders such as dystonia and myoclonus. It also highlighted the disease’s varied psychiatric manifestations, from paranoia to aggression, and its cognitive difficulties, from perseveration to executive dysfunction.

The podcast also highlights the neurological mimics of Huntington disease, such as Wilson’s disease and Friedreich’s ataxia, and a host of other causes of chorea, such as systemic lupus erythematosus, infections, and medications. I also review the treatments of the disorder.