Despite being one of the earliest recognized genetic diseases, many aspects of Huntington’s disease remain shrouded in mystery. This stems in part from our limited grasp on how our own minds work but also from the dark history of Huntington’s disease and the shame and silence that accompanied it for so long. In this episode, we attempt to bring what we know about Huntington’s disease into the light, to talk frankly about the characteristics and progression of this hereditary disease, the role of eugenics in creating and promoting the stigma surrounding it, the ethical considerations surrounding genetic testing, and the medical and scientific advancements that give us reason to hope. And we are so grateful to the provider of our firsthand account for sharing their perspective on what it’s like to be diagnosed with this disease. Tune in for all this and more.
| History | Biology |
| Wexler, Alice. The woman who walked into the sea: Huntington’s and the making of a genetic disease. Yale University Press, 2008. | Walker, F. O. (2007). Huntington’s disease. The Lancet, 369(9557), 218-228. |
| Bates, Gillian, Peter S. Harper, and Lesley Jones, eds. Huntington’s disease. No. 45. Oxford University Press, USA, 2002. | Ross, C. A., & Tabrizi, S. J. (2011). Huntington’s disease: from molecular pathogenesis to clinical treatment. The Lancet Neurology, 10(1), 83-98. |
| Andrew, S. E., and M. R. Hayden. “Origins and evolution of Huntington disease chromosomes.” Neurodegeneration 4.3 (1995): 239-244. | Roos, R. A. (2010). Huntington’s disease: a clinical review. Orphanet journal of rare diseases, 5(1), 1-8. |
| Bates, Gillian P. “The molecular genetics of Huntington disease—a history.” Nature Reviews Genetics 6.10 (2005): 766-773. | Waldvogel, H. J., Kim, E. H., Tippett, L. J., Vonsattel, J. P. G., & Faull, R. L. (2014). The neuropathology of Huntington’s disease. Behavioral neurobiology of Huntington’s disease and Parkinson’s disease, 33-80. |
| Critchley, Macdonald. “The history of Huntington’s chorea.” Psychological medicine 14.4 (1984): 725-727. | Waldvogel, H. J., Kim, E. H., Thu, D. C., Tippett, L. J., & Faull, R. L. (2012). New perspectives on the neuropathology in Huntington’s disease in the human brain and its relation to symptom variation. Journal of Huntington’s disease, 1(2), 143-153. |
| Hayden, Michael R. “Reflections on the history of Huntington’s Chorea.” Trends in Neurosciences 6 (1983): 122-124. | 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. https://doi.org/10.1159/000443738 |
| Heathfield, K. W. “Huntington’s chorea: a centenary review.” Postgraduate medical journal 49.567 (1973): 32. | Kieburtz, K., Reilmann, R., & Olanow, C. W. (2018). Huntington’s disease: Current and future therapeutic prospects. Movement Disorders, 33(7), 1033-1041. |
| MacDonald, Marcy E., et al. “A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington’s disease chromosomes.” Cell 72.6 (1993): 971-983. | Einstein, M. (2018) CRISPR takes on Huntington’s disease. Nature Outlook. https://www.nature.com/articles/d41586-018-05177-y |
| Maltsberger, John Terry. “Even Unto the Twelfth Generation—Huntington’s Chorea.” Journal of the history of medicine and allied sciences (1961): 1-17. | Wild, E. J., & Tabrizi, S. J. (2014). Targets for future clinical trials in Huntington’s disease: what’s in the pipeline?. Movement Disorders, 29(11), 1434-1445. |
| Myrianthopoulos, Ntinos C. “Huntington’s chorea.” Journal of Medical Genetics 3.4 (1966): 298. | Schapira, A. H., Olanow, C. W., Greenamyre, J. T., & Bezard, E. (2014). Slowing of neurodegeneration in Parkinson’s disease and Huntington’s disease: future therapeutic perspectives. The Lancet, 384(9942), 545-555. |
| Rubinsztein, David C., et al. “Mutational bias provides a model for the evolution of Huntington’s disease and predicts a general increase in disease prevalence.” Nature genetics 7.4 (1994): 525-530. | American Society of Gene + Cell Therapy clinical trials database: https://asgct.careboxhealth.com/ |
| Stevens, David L. “The history of Huntington’s chorea.” Journal of the Royal College of Physicians of London 6.3 (1972): 271. | |
| Vale, Thiago Cardoso, and Francisco Cardoso. “Chorea: a journey through history.” Tremor and Other Hyperkinetic Movements 5 (2015). | |
| Wexler, Alice. “Stigma, history, and Huntington’s disease.” The Lancet 376.9734 (2010): 18-19. | |
| Wexler, Alice, Edward J. Wild, and Sarah J. Tabrizi. “George Huntington: a legacy of inquiry, empathy and hope.” Brain 139.8 (2016): 2326-2333. |
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