ABOUT THE LAB
The Paulsen Lab researches the early biomarkers of rare neurological disease, with a focus on Huntington’s Disease and CADASIL. The Lab conducts observational or natural history studies and investigates the clinical, imaging, biofluid, and genetic features of these diseases in order to benefit the eventual development of therapeutic interventions.
RESEARCH PROJECTS
Preparing for preventive clinical trials in Huntington's disease Sponsor: DHHS, PHS, NATIONAL INSTITUTES OF HEALTH Award: 7U01NS105509-03 PI: PAULSEN, JANE S 4/23/2020 - 1/31/2024 |
Statistical disease modeling and clinimetrics to prepare for preventive trials in huntington disease Sponsor: DHHS, PHS, NATIONAL INSTITUTES OF HEALTH Award: 7U01NS103475-04 PI: PAULSEN, JANE S 4/23/2020 - 3/31/2023 |
Unraveling the earliest phases of vascular cognitive impairment and dementia using CADASIL--a monogenic form of small vessel cerebrovascular disease Sponsor: DHHS, PHS, NATIONAL INSTITUTES OF HEALTH Award: 1RF1AG074608-01 PI: PAULSEN, JANE S 9/30/2021 - 8/31/2024 |
Lee, J. M., Huang, Y., Orth, M., Gillis, T., Siciliano, J., Hong, E., Mysore, J.S., Lucente, D., Wheeler, V.C., Seong, I.S., McLean, Z.L, Mills, J.A., McAllister, B., Lobanov, S.V., Massey, T.H., Ciosi, M., Landwehrmeyer, G.B., Paulsen, J.S., … & Gusella, J. (2022). Genetic modifiers of Huntington’s disease differentially influence motor and cognitive domains. The American Journal of Human Genetics, 109(5), 885-899. doi: 10.1016/j.ajhg.2022.03.004. Epub 2022 Mar 23. PMID: 35325614. PMCID: PMC9118113. |
Lobanov, S.V., McAllister, B., McDade-Kumar, M., Landwehrmeyer, G.B., Orth, M., Rosser, A.E., REGISTRY Investigators of the European Huntington’s Disease Network, Paulsen, J.S., … & Jones, L. (2022). Huntington’s disease age at motor onset is modified by the tandem hexamer repeat in TCERG1. npj Genomic Medicine 7. doi: 10.1038/s41525-022-00317-w. PMID: 36064847. PMCID: PMC9445028. |
McAllister, B., Donaldson, J., Binda, C. S., Powell, S., Chughtai, U., Edwards, G., Stone, J., Lobanov, S., Elliston, L., Schuhmacher, L.N., Rees, E., Menzies, G., Ciosi, M., Maxwell, A., Chao, M.J., Hong, E.P., Lucente, D., Wheeler, V., Lee, J.M., MacDonald, M.E., Long, J.D., Aylward, E.H., Landwehrmeyer, G.B., Rosser, A.E., REGISTRY Investigators of the European Huntington’s disease network, Paulsen, J.S., … & Massey, T. H. (2022). Exome sequencing of individuals with Huntington’s disease implicates FAN1 nuclease activity in slowing CAG expansion and disease onset. Nature Neuroscience, 25(4), 446-457. doi: 10.1038/s41593-022-01033-5. Epub 2022 Apr 4. PMID: 35379994. PMCID: PMC8986535. |
Liu, C.F., Younes, L., Tong, X.J., Hinkle, J.T., Wang, M., Phatak, S., Xu, X., Bu, X., Looi, V., Bang, J., Tabrizi, S.J., Scahill, R.I., Paulsen, J.S., … & Ross, C.A. (2023) Longitudinal imaging highlights preferential basal ganglia circuit atrophy in Huntington’s disease. Brain Communication, 5(5), fcad214. doi: 10.1093/braincomms/fcad214. Epub 2023 Aug 18. PMID: 37744022. PMCID: PMC10516592. |
Eisenmenger, L.B., Peret, A., Famakin, B.M., Spahic, A., Roberts, G.S., Bockholt, H.J., Johnson, K.M. & Paulsen, J.S. (2023). Vascular Contributions to Alzheimer’s Disease. Translational Research, 254, 41-53. doi: 10.1016/j.trsl.2022.12.003. Epub 2022 Dec 15. PMID: 36529160. PMCID: PMC10481451. |
Sokol, L., Nance, M., Kluger, B.M., Yeh, C., Paulsen, J.S., Smith, A.K. & Bega, D. (2023). Factors Associated with the Place of Death in Huntington Disease: Analysis of Enroll-HD. Journal of Palliative Medicine, 26(7), 915-921. doi: 10.1089/jpm.2022.0143. Epub 2023 Jan 27. PMID: 36706436. PMCID: PMC10316529. |
Sokol, L., Troost, J.P., Bega, D., Paulsen, J.S., Kluger, B.M., Applebaum, A.J., … & Carlozzi, N.E. (2023). Death Anxiety in Huntington disease: Longitudinal Health-Related Quality of Life (HRQoL) Outcomes. Journal of Palliative Medicine, 26(7), 907-914. doi: 10.1089/jpm.2022.0160. Epub 2023 Jan 6. PMID: 36607769. PMCID: PMC10316526. |
Stoebner, Z.A., Hett, K., Lyu, I., Johnson, H., Paulsen, J.S., Long, J.D. & Oguz, I. (2023). Comprehensive shape analysis of the cortex in Huntington’s disease. Human Brain Mapping, 44(4), 1417-1431. doi: 10.1002/hbm.26125. Epub 2022 Nov 21. PMID: 36409662. PMCID: PMC9921229. |
Wijeratne, P.A., Eshaghi, A., Scotton, W.J., Kohli, M., Aksman, L., Oxtoby, N.P., Pustina, D., Warner, J.H., Paulsen, J.S., … & Alexander, D.C. (2023). The temporal event-based model: Learning event timelines in progressive diseases. Imaging Neuroscience, 1(1), 1-19. doi: 10.1162/imag_a_00010. Epub 2023 Aug 21. PMID: 37719837. PMCID: PMC10503481. |
Oral presentations:
Paulsen, J.S. (2023). Progress in Biomarkers for Huntington’s Disease. National Academies of Science, Forum on Neuroscience and Nervous System Disorders, Multimodal Biomarkers for Central Nervous Systems Disorders, Washington, DC. March. |
Paulsen, J.S. (2023). The US CADASIL Consortium: A Multi-site Natural History Study. United Leukodystrophy Family Conference. Itasca, IL. June. |
Paulsen, J.S. (2023). From gene mutation to disease prevention: Progress and challenges in the HD continuum. 148th Annual Meeting of the American Neurological Association, Philadelphia, PA. September. |
Paulsen, J.S. (2024). Family Participation: The Key to Success in Genetic Research. cureCADASIL. Virtual. January. |
Poster presentations:
Baker, B., Bockholt, H., Petropoulos, H., Calhoun, V., Caprihan, A., Paulsen, J.S., Geschwind, M.D., Liebeskind, D.S., Johnson, K.M., Eisenmenger, L.B., Adams, W.H. & Newton, M. (2023). Alterations in Dynamic and Static Functional Network Connectivity in CADASIL Disease. Organization for Human Brain Mapping 2023. Montreal, QC. June. |
Bockholt, H., Baker, B., Caprihan, A., Petropoulos, H., Clemsen, J., Paulsen, J.S., Geschwind, M.D., Liebeskind, D.S., Johnson, K.M., Eisenmenger, L.B., Adams, W.H., Newton, M.A. & Calhoun, V. (2023). A Framework for Evaluating White Matter Hyperintensities (WMH) methods in CADASIL disease. Organization for Human Brain Mapping 2023. Montreal, QC. June. |
Bockholt, H., Petropoulos, H., Caprihan, A., Paulsen, J.S., Geschwind, M., Liebeskind, D., Johnson, K.M., Eisenmenger, L.B., Adams, W.H., Newton, M.A. & Calhoun, V. (2023). Brain Peak Width of Skeletonized Mean Diffusivity (PSMD) as a white matter disease marker in CADASIL. Organization for Human Brain Mapping 2023. Montreal, QC. June. |
Baker, B.T., Bockholt, H.J., Petropoulos, H., Calhoun, V.D., Caprihan, A., Geschwind, M.D., Liebeskind, D.S., Johnson, K.M., Eisenmenger, L.B., Adams, W.H., Newton, M.A. & Paulsen, J.S. (2023). Dynamic And Static Functional Network Connectivity Differentiates Cognitive Impairment in Individuals With CADASIL. 148th Annual Meeting of the American Neurological Association. Philadelphia, PA. September. |
Bockholt, H.J., Adams, W.H., Geschwind, M.D., Caprihan, A., Johnson, K.M., Liebeskind, D.S., Eisenmenger, L.B., Petropoulos, H., Hernandez, J., Clemsen, J., Calhoun, V.D. & Paulsen, J.S. (2023). Neurovascular Imaging Markers of Cognitive Impairment in CADASIL. 148th Annual Meeting of the American Neurological Association. Philadelphia, PA. September. |
Bockholt, H.J., Shannon, K.M., Newton, M.A., Adams, W.H., Calhoun, V.D., & Paulsen, J.S. (2023). Remote UHDRS Motor Exam Using Machine Learning. 148th Annual Meeting of the American Neurological Association. Philadelphia, PA. September. |
Geschwind, M.D., Biller, J., Elliott, J.L., Jayadev, S., Salloway, S., Gutierrez, J., Seshadri, S., Majersik, J.J., Orjuela, K.D., Liebeskind, D.S., Lutsep, H.L., Hajjar, I., Elahi, F.M., Fathali, I., Bockholt, H.J. & Paulsen, J.S. (2023). Unraveling the Earliest Phases of Vascular Cognitive Impairment and Dementia Using CADASIL. 148th Annual Meeting of the American Neurological Association. Philadelphia, PA. September. |
Geschwind, M.D., Zitser, J., Elahi, F.M., Hajjar, I., Gutierrez, J., Fathali, I., Crossland, D., Terranova, M., Driscoll, T., Bockholt, H.J., Paulsen, J.S., Djakovic, M., Schneck, M.J. & Biller, J. (2023). Retrospective Study of Multi-site CADASIL: Implications for Clinical and Research Practice. 148th Annual Meeting of the American Neurological Association. Philadelphia, PA. September. |
Pinto, A., Rudrud, M., Adams, W.H., Newton, M.A., Bockholt, H.J., Shannon, K.M., & Paulsen, J.S. (2023). Limitations in Biomarker Discovery Efforts for Prodromal Huntington’s Disease. 148th Annual Meeting of the American Neurological Association. Philadelphia, PA. September. |
Bockholt, H.J., Garjani, M., Newton, M.A., Adams, W.H., Calhoun, V.D., Shannon, K.M. & Paulsen, J.S. (2023). Harmonizing Remote and Onsite UHDRS Motor Assessment Using Machine Learning. Huntington Study Group 2023 Meeting. Chandler, AZ. November. |
Paulsen, J.S., Bockholt, H.J., Adams, W.H., Biller, J., Elliott, J.L., Caprihan, A., Johnson, K.M., Jayadev, S., Salloway, S., Gutierrez, J., Majersik, J.J., Lutsep, H.L., Orjuela, K.D., Liebeskind, D.S., Seshadri, S., Hajjar, I. & Geschwind, M.D. (2023). Unraveling heterogeneity in Vascular Cognitive Impairment and Dementia using monogenic models. Neuroscience 2023. Washington, DC. November. |
Bockholt, H.J., Baker, B.T., Pasley, N., Clemsen, J., Eisenmenger, L., Liebeskind, D.S., Geschwind, M.D., Calhoun, Vince D. & Paulsen, J.S. (2024). Quantitative Analysis of White Matter Neuroimaging Biomarkers in a US CADASIL Consortium. International Conference on Alzheimer’s Disease and Parkinson’s Diseases and Related Neurological Disorders. Lisbon, Portugal. March. |
Geschwind, M.D., Biller, J., Elliott, J.L., Jayadev, S., Salloway, S., Gutierrez, J., Seshadri, S., Majersik, J.J., Orjuela, K.D., Liebeskind, D.S., Lutsep, H.L., Hajjar, I., Elahi, F.M., Bockholt, H.J. & Paulsen, J.S. (2024). Unraveling the earliest phases of vascular cognitive impairment and dementia by establishing a large USA CADASIL Consortium. American Academy of Neurology 76th Annual Meeting 2024. Denver, CO. April. |
Geschwind, M.D., Zitser-Koren, J., Elahi, F., Hajjar, I., Gutierrez, J., Fathali, I., Crossland, D., Terranova, M., Driscoll, T., Bockholt, H.J., Paulsen, J.S., Djakovic, M., Schneck, M.J. & Biller, J. (2024). Retrospective Study of Multi-Site CADASIL: Implications for Clinical and Research Practice. American Academy of Neurology 76th Annual Meeting 2024. Denver, CO. April. |
Bockholt, H.J., Baker, B.T., Eisenmenger, L.B., Geschwind, M.D., Liebeskind, D.S., Krishnamurthy, L. & Paulsen. J.S. (2024). Comprehensive MRI Anomaly Detection Interface for CADASIL and VCID: A Multimodal Approach. Organization for Human Brain Mapping 2024 Annual Meeting. Seoul, Korea. June. |
Bockholt, H.J., Baker, B.T., Clemsen, J., Calhoun, V.D. & Paulsen, J.S. (2024). A Resting-State fMRI Study of Suicide Ideation Correlates in Huntington’s Disease. Organization for Human Brain Mapping 2024 Annual Meeting. Seoul, Korea. June. |
CONTACT
Clinical Science Center at the UW University Hospital, 600 Highland Ave, Madison, WI 53705