Review and respond on the neurobiological basis for the disorder that your classmate has described as well as at least one current and relevant research study related to diagnosis or treatment of the disorder below .

Review and respond on the neurobiological basis for the disorder that your classmate has described as well as at least one current and relevant research study related to diagnosis or treatment of the disorder below .

I have chosen a basal ganglia disease call Huntington’s disease. Basal ganglion is a part of the brain that controls motion (U.S. National Library of Medicine, 2017). Symptoms are caused by disease or injury to the brain. The Basal ganglia affects the body’s motor system. Huntington’s disease is caused by the degeneration of the caudate nucleus and the putamen. Unlike Parkinson’s disease, which restricts movement, Huntington’s cause uncontrollable movement. Huntington disease is usually genetic or hereditary. (Carlson, 2012)

Huntington’s disease defect lies on the 4th Chromosome. Interestingly the DNA of HD repeats itself almost 4 times as much as normal DNA and it is hereditary the chances of the person developing symptoms at an early age increases.(U.S. National Library of Medicine, 2017)

HD has many symptoms the obvious movement to behavior problems, cognition and abnormal interpretation social interactions just to name a few. As study in focused on how the mind is impaired by Huntington’s disease and the aspects of theory of mind and a larger cognitive impairment on the social level and the patient perspective. They study showed how the disease affected their perspective and how their actions were deteriorating in social settings. (Eddy, C. M., Mahalingappa, S. S., & Rickards, H. E.; 2014)

To Diagnose HD data from MRI’s are used. There is a test that is administered to help diagnose Huntington’s Disease it is call the Unified Huntington’s Disease Rating Scale (UHDRS)29. The test assesses motor function and cognition. There are 31 signs assessed for motor and three task for cognition. The higher the scores the on the motor skills the higher the chances of motor impairment; the reverse is the case for the cognition assessment. (Duff, K., PhD., Paulsen, J. S., PhD., Beglinger, L. J., PhD., etc . . . 2010).

As with most degenerative disease there is no concrete cure there are medicine’s and therapies to help with some symptoms such as dopamine which is used in other ganglia disease as well. (Wichmann, T., DeLong, M., & DeLong, M. R.; 2016). Recent research has tried stem cell augmentation with positive therapeutic potential. The key is to know what stage the patients HD is in order to be helpful. (Crane, A. T., Rossignol, J., & Dunbar, G. L., 2014). Stem Cell research is still one that is new to the community when it comes to genetics’ and treatment but as it continues to be proven to if no else but prolong the life of individuals with cellular and disorders maybe it will become more common place.

All of this information is important because the life expectancy after diagnosis is usually no more than 10 to 15 years. (Carlson, 2012)The early the diagnosis HD and research and treatment could prove to not only prolong the life of individuals but give those with the gene a choice life decisions may be to the point of elimination of the genetic disorder as a whole.

References:
Crane, A. T., Rossignol, J., & Dunbar, G. L. (2014). Use of Genetically Altered Stem Cells for the Treatment of Huntington’s Disease. Brain Sciences (2076-3425), 4(1), 202-219. doi:10.3390/brainsci4010202

Duff, K., PhD., Paulsen, J. S., PhD., Beglinger, L. J., PhD., Langbehn, Douglas R,M.D., PhD., Wang, C., M.S., Stout, J. C., PhD., . . . Queller, S., PhD. (2010). “Frontal” behaviors before the diagnosis of huntington’s disease and their relationship to markers of disease progression: Evidence of early lack of awareness. The Journal of Neuropsychiatry and Clinical Neurosciences, 22(2), 196-207. Retrieved from

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