Authors : Mohammad Shaheen; Tejomurtula Hari Chandana; Guddanti Hema; Gayathri Paturi

Volume/Issue : Volume 9 - 2024, Issue 5 - May

Google Scholar : https://tinyurl.com/32h3k2p5

Scribd : https://tinyurl.com/22xfn2p4

DOI : https://doi.org/10.38124/ijisrt/IJISRT24MAY1659

Abstract : Huntington's disease (HD) is a severe genetic illness caused by a CAG expansion on chromosome 4 in the huntingtin gene. This results in an excessively long polyglutamine tract, which has negative consequences. The normal huntingtin protein serves important tasks, however the mutant version causes a variety of detrimental effects. Disruptions in cellular processes such as autophagy, decreased mitochondrial activity, lysosomal dysfunction, and others are involved in the etiology of HD. Inflammation, oxidative stress, and transcriptional alterations all contribute to neurodegeneration. Despite great progress in understanding the genetic basis of HD, there is currently no cure. The current approach to management focuses on symptomatic control, but as our understanding of genetics advances, targeted medicines might become available. Although HD is still a difficult condition to treat, there is optimism for future advancements in research. Clinical techniques mostly focus on symptom management, with genetic testing assisting in diagnosis. Promising research looks on potential disease-modifying therapies, such as ways to reduce mutant huntingtin levels and improve clearance. Ongoing clinical research provide promise for future treatments, bringing hope to HD patients and their families.

Keywords : Huntington’s Illness, Diagnosis, Treatment, Inflammation.

References :

1. Kay C., et al. “Epidemiology of Huntington disease”. Handbook of Clinical Neurology 144.3 (2017): 31-46.
2. Bates GP., et al. “Huntington disease”. Nature reviews/disease primers 1 (2015): 1-21.
3. Pringsheim T., et al. “The incidence and prevalence of Huntington’s disease: A systematic review and meta-analysis”. Movement Disorders 27.9 (2012): 1083-1091.
4. The U.S.-Venezuela Collaborative., et al. “Venezuelan kindreds reveal that genetic and environmental factors modulate Huntington’s disease age of onset”. Proceedings of the National Academy of Sciences 101.10 (2004): 3498-3503.
5. Cepeda C., et al. “The corticosteroid pathway in Huntington’s disease”. Neurobiology 81 (2007): 253-271.
6. Ross CA., et al. “Huntington disease: natural history, biomarkers and prospects for therapeutics”. Nature Reviews Neurology 10.4 (2014): 204-216.
7. Wheeler VC., et al. “Factors associated with HD CAG repeat instability in Huntington disease”. Journal of Medical Genetics 44 (2007): 695-701.
8. Rosenblatt A., et al. “Familial influence on age of onset among siblings with Huntington disease”. American Journal of Medical Genetics 105 (2001): 399-403.
9. Vonsattel JP., et al. “Neuropathological classification of Huntington’s disease”. Journal of Neuropathology and Experimental Neurology 44 (1985): 559-577.
10. Stout JC., et al. “Neurocognitive signs in prodromal Huntington disease”. Neuropsychology 25 (2011): 1-14.
11. Duff K., et al. “Mild cognitive impairment in prediagnosed Huntington disease”. Neurology 75 (2010): 500-507.
12. Papp KV., et al. “Biological markers of cognition in prodromal Huntington’s disease: a review”. Brain and Cognition 77 (2011): 280- 291.
13. Tabrizi SJ., et al. “Biological and clinical manifestations of Huntington’s disease in the longitudinal TRACK-HD study: cross-sectional analysis of baseline data”. The Lancet Neurology 8 (2009): 791-801.
14. Rupp J., et al. “Comparison of vertical and horizontal saccade measures and their relation to gray matter changes in premanifest and manifest Huntington disease”. Journal of Neurology 259 (2012): 267- 276.
15. Reilmann R., et al. “Tongue force analysis assesses motor phenotype in premanifest and symptomatic Huntington’s disease”. Journal of Movement Disorders 25 (2010): 2195-2202.
16. Bechtel N., et al. “Tapping linked to function and structure in premanifest and symptomatic Huntington disease”. Neurology 75 (2010): 2150-2160
17. Craufurd D, MacLeod R, Frontali M, et al. Diagnostic genetic testing for Huntington’s disease. Pract Neurol 2015; 15: 80–84.
18. MacLeod R, Tibben A, Frontali M, et al. Recommendations for the predictive genetic test in Huntington’s disease. Clin Genet 2013; 83: 221–231.
19. Wild EJ, Boggio R, Langbehn D, et al. Quantification of mutant huntingtin protein in cerebrospinal fluid from Huntington’s disease patients. J Clin Invest 2015; 125: 1979–1986.
20. Rodrigues FB, Byrne L, McColgan P, et al. Cerebrospinal fluid total tau concentration predicts clinical phenotype in Huntington’s disease. J Neurochem 2016; 139: 22–25.