Early Dysfunction of Neural Transmission and Cognitive Processing in Huntington’s Disease

Abstract

Huntington’s disease (HD) is one of many deteriorative brain diseases, a class of disease in which neurons progressively die. In its final stages, HD robs patients of the dignity of their humanity; denying control of basic movements necessary for communication, facial expression and personal accomplishment. A means to test for the mutation has been available since 1993, when the Huntington’s Disease Collaborative Research Group exposed the huntingtin gene and characterized the nature of the mutation process. Despite this, children of patients often avoid determining their genotype because such a diagnosis is currently merely bleak without hope of remedy, and because of legitimate fears of employment discrimination or difficulties maintaining health insurance given the legal definition of “pre-existing condition.” In the absence of promising treatments or prospects for cures the devastating loss of muscular control during the final stages of disease progression is ominous. It is therefore not uncommon for HD patients to become aware of their own disease rather late into its progression when motor symptoms begin to emerge. As these movement symptoms arise they may be effectively masked by compensatory behavioral strategies. In time, however, these compensatory tactics fail to keep up with the advancing choreic movements which eventually dominate and negate purposeful motor control.