Topic
This research aims to highlight and expound the prognosis, pathophysiology, risk factors, and the treatment of Huntington’s disease. By researching the recent journals, the study will point out the prevalence of Huntington’s disease and the vulnerable populations. For example, an analysis of the risk factors of the disease, including the genes and age group, will be investigated. After noting the risk factors, the study will highlight the symptoms of the disease. This step is vital since it informs the patients about the time that they should seek treatment. It also tells the researchers and caregivers about the manifestation of the disease.
After investigating the signs and symptoms associated with Huntington’s disease, the study will examine the causes, frequency, inheritance pattern, and diagnosis. An analysis of the mutation of the genes associated with Huntington’s disease will be investigated. More importantly, this research will explain how the Huntington gene affects the nerve cells in the brain. Later it will describe the populations that are at risk of contracting the disease. This procedure will encompass analyzing how people inherit the altered gene. After investigating the inheritance patterns, the study will describe the role of genetic testing in the diagnosis of the disease.
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The final approach in understanding Huntington’s disease will involve the analysis of the complications that patients report and the medications needed. Thus, the research will highlight how the disease affects an individual’s functional capabilities over time and the possible risk of death. At times, Huntington’s disease may prompt a patient to commit suicide. However, most cases of death involving the condition result from pneumonia infections, injury related to falls, and complications due to the inability to swallow (McColgan & Tabrizi, 2017). After noting these factors, the research will describe the medications that can manage the symptoms.
Thesis
The purpose of this research is to highlight the origin, risk factors, pathophysiology, and the treatment of Huntington’s disease so that the healthcare professionals can understand the pattern, development, and diagnosis of the condition. Incorporation of recently peer-reviewed journals will facilitate this process since they will provide an in-depth understanding of the trend of Huntington’s disease. Thereby, the findings from this study can be applied in the care settings and form the basis for additional research.
Annotated Bibliography
Honrath, P., Dogan, I., Wudarczyk, O., Görlich, K. S., Votinov, M., Werner, C. J., Gur, R. E., et al. (2018). Risk factors of suicidal ideation in Huntington’s disease: literature review and data from Enroll-HD. Journal of Neurology , 265 (11), 2548-2561.doi 10.1007/s00415-018-9013-6
This study investigates the causes of suicide among patients with Huntington’s disease. About 10.3% and 21.5% of the patients are likely to have a suicide attempt or die by suicide, respectively. They noted that the initial symptoms of the disease facilitated suicidal ideation among patients. Suicidal ideation was common among patients who exhibited neuropsychiatric symptoms such as psychosis, anxiety, and irritability. This study is important to my research since it points out the impact of Huntington’s disease on patients. I will use it to explain the worst-case scenario of the disease.
Horvath, S., Langfelder, P., Kwak, S., Aaronson, J., Rosinski, J., Vogt, T. F., Choi, O. W., et al. (2016). Huntington's disease accelerates epigenetic aging of the human brain and disrupts DNA methylation levels. Aging (Albany NY) , 8 (7), 1485-1504.doi:10.18632/aging.101005
This research intends to investigate the relationship between a biological tissue age and Huntington's disease. It is one of the advanced methods that aim to understand the role of the disease in the aging process. In the data collection process, the researchers collected data from 475 brain samples. They noted that Huntington’s disease accelerated the aging process of specific brain regions. I will use this research to support my analysis concerning the ways that the disease affects cognitive functions.
McColgan, P., & Tabrizi, S. J. (2017 August 17). Huntington's disease: A clinical review. European Journal of Neurology , 25 (1), 24-34.doi:10.1111/ene.13413
This research highlights the prognosis of Huntington’s disease by describing the procedures that George Huntington went through to identify the hereditary nature of the condition. Besides, this journal highlights the prevalence, pathogenesis, and diagnosis of Huntington’s disease. It investigates the genetic factors associated with the disease and how it affects a person’s cognitive capabilities and motor skills. This journal is relevant to my research since it will provide backup statements for the understanding of the origin and the impact of the disease on a human body. Besides, it will highlight the investigations and management of the disease. I will use the findings described in the article to determine the best treatment option.
Papoutsi, M., Magerkurth, J., Josephs, O., Pepes, S. E., Ibitoye, T., Reilmann, R., Rees, G., et al. (2019). Activity or Connectivity? Evaluating neurofeedback methods in Huntington's disease. bioRxiv .doi:10.1101/481903v2
This study recommends the use of non-invasive methods, including neurofeedback training (NFT), as a means to enhance a person’s cognitive functions. It targets the brain regions that Huntington’s disease has affected. It used a single-blind, sham-controlled study that involved the participants receiving neurofeedback from the activity of the Supplementary Motor Area (SMA). The researchers noted that the NFT method could guide patients to regulate the action of the brain and thereby managing the symptoms associated with Huntington’s disease. This study is crucial to my research since it provides an understanding of the ways that the condition affects the brain and how it can be controlled to avoid further risks.
Rawlins, M. D., Wexler, N. S., Wexler, A. R., Tabrizi, S. J., Douglas, I., Evans, S. J., & Smeeth, L. (2016). The prevalence of Huntington's disease. Neuroepidemiology , 46 (2), 144-153.doi:10.1159/000443738
This journal compiles the statistics from different parts of the Earth to determine the prevalence of Huntington’s disease. It points out the prevalence of the condition among people from various racial and ethnic backgrounds. According to the researchers, the prevalence of Huntington’s disease was high among African Americans compared to Caucasians and Asians. They noted that Asians had the lowest incidences of Huntington’s disease due to weak mutation in their bodies. I will use the findings from this study to describe the trend in the occurrence of Huntington’s disease among different races and ethnicities. It will serve as a foundation for the risk factor of Huntington’s disease.
Wild, E. J., & Tabrizi, S. J. (2017). Therapies targeting DNA and RNA in Huntington's disease. The Lancet Neurology , 16 (10), 837-847.doi:10.1016/S1474-4422(17)30280-6
This study describes the pathogenic processes involved in the manifestation of Huntington’s disease. Thus, it provides the treatment methods aimed at managing the symptoms of the disease. Since the condition emerges from a gene mutation, this study recommends the administration of antisense oligonucleotides (ASOs) and RNA interference (RNAi) compounds that facilitate the degradation of the Huntington (HTT) gene. Another means is the use of orally bioavailable small molecules that reduce the symptoms associated with the disease by altering mRNA growth and formation. Another therapy involves targeting the DNA by introducing Zinc finger transcriptional suppressors and CRISPR-Cas9. Although these two methods are yet to be applied to humans, they will form a basis for the new treatment methods in my research. This article is vital for my study since it highlights the current therapies that suppress the HTT gene.
