Huntington’s disease (HD) is a progressive, neurodegenerative disorder with an autosomal-dominant (see Figure 3a) pattern of inheritance. Anyone carrying the mutation responsible for the pathogenesis of HD will ultimately develop the disease. This disease is generally late-onset and characterized by psychiatric, cognitive, and motor disturbances due to progressive neurodegeneration in the cerebral cortex and basal ganglia (Landles & Bates, 2004). As the disease progresses, the individual becomes bed or wheelchair bound. This functional decline is followed by death anywhere between 10 to 25 years after the onset of disease. Death has been known to result from various possible sequelae due to the effects of disease process such as malnutrition, aspiration pneumonia, cardiac complications, and many others.
Worldwide incidence is estimated to be between 4 and 5 per million, but is more prevalent in certain countries (Brown & Ropper, 2005). Malta and Norway have rates that are higher than others while countries like Finland and Japan have a decreased prevalence (Harper, 1992). Specifically in Finland, the prevalence falls to 5 per million being affected (Palo, Somer, Ikonen, Karila, & Peltonen, 1987). Venezuela is another area with increased prevalence of HD (Wexler, 2004). With so many lives affected by HD, it is important to gain better understanding of the disorder. This paper discusses characteristics and hereditability of HD, pathogenesis, predictive and prenatal testing, as well as current treatment options and ideas for future research. With increase in knowledge comes the higher likelihood of discovering a cure.
