Huntington Disease

Huntington disease is an autosomal dominant neurodegenerative disease caused by expansion of the trinucleotide cytosine-adenine-guanine in the firs exon of the Huntingtin gene. It is well-known that Huntington disease manifests as a triad of clinical symptoms in motor, cognition, and psychiatric.

Currently, there is no effective treatment for Huntington disease patients. The faculty in the Department of Biostatistics have been actively engaged in a large 12-year prospective observational study at 32 sites in six countries including USA, Canada, Germany, Australia, Spain, and UK, PREDICT-HD, funded by NIH/NIDDS, to (i). predict the Huntington disease manifestation for prodromal HD subjects; (ii). lead the development of statistical disease progression models for understanding the HD progression; (iii). facilitate a strategy to enrich the sample for conducting disease-modifying intervention trials. 

Our Research:

• Zhang, Y., Zhou, J., Gehl, CR., Long, JD., Johnson, H., Magnotta, VA., Sewell, D., Shannon, K., and Paulsen, JS. (2021). Mild cognitive impairment as an early landmark in Huntington’s disease. Frontier of Neurology-Movement Disorder. doi:10.3389/fneur.2021.678652.
• Paulsen, J., Lourens, S., Kieburtz, K., and Zhang, Y. (2019). Sample enrichment for clinical trials to show delay of onset in Huntington disease. Movement Disorder. 34(2): 274-280.
• Lourens, S., Zhang, Y., Long, JD., and Paulsen, LS. (2017). Analysis of longitudinal censored semicontinuous data with application to the study of executive dysfunction: The Tower Task. Statistical Methods for Medical Research. 26(2): 865-897.
• Liu, D., Long, JD., Zhang, Y., Raymond, LA., Marder, K., Rosser, A., McCukser, EA., Mills, JA., and Paulsen, JS. (2015). Motor onset and diagnosis in Huntington disease using the diagnostic confidence level. Journal of Neurology. 262: 2691-2698.
• Paulsen, JS., Long, JD., Ross, CA., Harrington, DL., Erwin, CJ., Williams, JK., Westervelt, KH., Johnson, HJ., Aylward, EH., Zhang, Y., Bockholt, HJ., Barker, RA., and the PREDICT-HD investigators and Coordinators of the Huntington Study Group. (2014). Prediction of manifest of Huntington disease with clinical and imaging measures: A 12-year prospective observation study. The Lancet-Neurology. 13: 1193-1201.
• Biglan, KM., Zhang, Y., Long, JD., Geschwind, M., Kang, GA., Killoran, A., Lu, W., McCusker, E., Mills, JA., Raymond, LA., Testa, C., Wojcieszek, J., Paulsen, JS., and the PREDICT-HD investigators of the Huntington Study Group. (2013). Refining the diagnosis of Huntington Disease: The PREDICT-HD study. Frontier in Aging Neuroscience. 5:12. doi:10.3389/fnagi.2013.00012.
• Harrington, D., Smith, M., Zhang, Y., Carlozzi, N., Paulsen, JS., and the PREDICT-HD investigators and Coordinators of the Huntington Study Group. (2012). Cognitive domains that predict time to diagnosis in prodromal Huntington disease. Journal of Neurology, Neurosurgery, and Psychiatry. 83: 612-619.
• Zhang, Y., Long, JD., Mills, JA., Warner, JH., Lu, W., Paulsen, JS., and the PREDICT-HD investigators and Coordinators of the Huntington Study Group. (2011). Indexing disease progression at study entry with individuals at-risk for Huntington disease. American Journal of Medical Genetics, Part B: Neuropsychiatric Genetics. 156(7): 751-763.