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
TEAM
Jane Paulsen
Credentials: Ph.D.
Position title: Professor
Education
Doctorate:
University of Iowa
Post doctorate:
University of California, San Diego
Research Interests
Cognitive, psychiatric and imaging correlates of neuropsychiatric disorders; early detection of brain disease; methods development for clinical trials, genetic discrimination, discovery and validation of biological and clinical markers of brain disease; neuroimaging; omics markers as clinical trial outcomes.
Researcher Profile
| Title: Unraveling the earliest phases of vascular cognitive impairment and dementia using CADASIL–a monogenic form of small vessel cerebrovascular disease Project Number: 1RF1AG074608-01 Name of PD/PI: Jane Paulsen, Michael Geschwind Source of Support: DHHS, NIH, NIA Project/Proposal Start and End Date: 09/30/2021–08/31/2027 |
| Title: Non-Invasive MRI Markers to Elicit the Role of Vascular Disease in CADASIL Compared to Normal Aging Project Number: 1R01AG082208-01A1 Name of PD/PI: Laura Eisenmenger, Jane Paulsen Source of Support: DHHS, NIH, NIA Project/Proposal Start and End Date: 02/01/2024–01/31/2029 |
| Title: Cerebrovascular reactivity as a VCID Biomarker in CADASIL Project Number: 1R01AG085602-01A1 Name of PD/PI: Jill Barnes, Jane Paulsen, Hanzhang Lu Source of Support: DHHS, NIH, NIA Project/Proposal Start and End Date: 09/01/2024–08/31/2029 |
| Title: Retinal biomarkers in monogenic vascular cognitive impairment and dementia Project Number: U01FD008399-01 Name of PD/PI: Jane Paulsen Source of Support: DHHS, FDA Project/Proposal Start and End Date: 09/05/2024 – 08/31/2028 |
| Title: Mapping Synaptic Density in Prodromal and Manifest Lewy Body Dementia Project Number: R01AG082174-01 Name of PD/PI: Catherine Gallagher Source of Support: DHHS, NIH Project/Proposal Start and End Date: 09/25/2024 – 07/31/2029 |
| Ghofrani-Jahromi, M., Poudel, G.R., Razi, A., Abeyasinghe, P.M., Paulsen, J.S., Tabrizi, S.J., … & Georgiou-Karistianis, N. (2024). Prognostic enrichment for early-stage Huntington’s disease: An explainable machine learning approach for clinical trial. NeuroImage: Clinical, 43, 103650. doi: 10.1016/j.nicl.2024.103650. Epub 2024 Aug 10. PMID: 39142216. PMCID: PMC11367643. |
| Paulsen, J.S. & Gehl, C. (2024). Clinical Neuropsychology: Integration and Application in Neurology. Neurologic Clinics, 42(4), xii-xiv. doi: 10.1016/j.ncl.2024.06.001. Epub 2024 Jul 25. PMID: 39343488. |
| Cavanagh, L. & Paulsen, J.S. (2024). Neuropsychology and Vascular Cognitive Impairment and Dementia. Neurologic Clinics, 42(4), 809-820. doi: 10.1016/j.ncl.2024.05.006. Epub 2024 Jun 29. PMID: 39343476. PMCID: PMC12261353. |
| Abeyasinghe, P.M., Cole, J.H., Razi, A., Poudel, G.R., Paulsen, J.S., Tabrizi, S.J. … & Georgiou-Karistianis, N. (2025). Brain Age as a New Measure of Disease Stratification in Huntington’s Disease. Movement Disorders, 40(4), 627-641. doi: 10.1002/mds.30109. Epub 2025 Jan 28. PMID: 39876588. PMCID: PMC12006897. |
| Brady, L.S., Mahinrad, S., Edelmayer, R.M., Potter, W.Z., Hutten, S.J., Anticevic, A., Taylor-Burds, C., Winston, C.N., Coetzee, T., Paulsen, J.S., … & Sharma, V.M. (2025). Beyond Alzheimer’s disease-translating biomarker insights across CNS diseases. Science Translational Medicine, 5(17), 823. doi: 0.1126/scitranslmed.adr2511. Epub 2025 Nov 5. PMID: 41191776. |
| Chelsky, D., Joyce, C., Bockholt, H.J., Adams, W.H., McAllister, F., Smock., J.W., … & Paulsen, J.S. (2025). Striatum-specific proteomic markers validated in prodromal Huntington’s disease. Annals of Clinical and Translational Neurology. doi: 10.1002/acn3.70272. Epub 2025 Dec 9. PMID: 41363816. |
| Lee, J.-M., McLean, Z.L., Correia, K., Shin, J.W., Lee, S., Jang, J.-H., Lee, Y., Kim, K.-H., Choi, D.E., Long, J.D., Lucente, D., Seong, I.S., Pinto, R.M., Giordano, J.V., Mysore, J.S., Jacqueline, S., Elezi, E., Ruliera, J., Gillis, T., Wheeler, V.C., MacDonald, M.E., Gusella, J.F., Gatseva, A., Ciosi, M., Lomeikaite, V., Loay, H., Monckton, D.G., Wills, C., Massey, T.H., Jones, L., Holmans, P., Kwak, S., Sampaio, C., Orth, M., Landwehrmeyer, B., Paulsen, J.S., … & Myers, R.H. (2025). Genetic modifiers of somatic expansion and clinical phenotypes in Huntington’s disease reveal shared and tissue-specific effects. Nature Genetics. doi: 10.1038/s41588-025-02191-5. PMID: 40490511. |
| Lopez-Navarro, E.R., Mayer, S.V., Barreto, B.R., Strobino, K.H., Spagnolo-Allende, A., Bueno, P.G., Gurel, K., Kozii, K., Rahman, S., Khasiyev, F., Paulsen, J.S. & Gutierrez, J. (2025). Assessing changes on large cerebral arteries in CADASIL: Preliminary insights from a case-control analysis. Journal of Stroke and Cerebrovascular Diseases, 34(6), 108294. doi: 10.1016/j.jstrokecerebrovasdis.2025.108294. Epub 2025 Mar 15. PMID: 40096922. PMCID: PMC12085198. |
| Paulsen, J.S., Bovin, N.A., Clemsen, J.D., Weiss, A., Key, A.M., Janz, M.L., … & Shannon, K.M. (2025). Systematic Review with Meta-Analysis of Biofluid Markers for Huntington’s Disease. Movement Disorders. doi: 10.1002/mds.70067. Epub 2025 Oct 13. PMID: 41081429. |
| Paulsen, J.S. & Burks, D.K. (2025). Revised Diagnostic Criteria for Huntington Disease: What’s It Gonna Take? Neurology. Clinical Practice, 15(2), e200430. doi: 10.1212/CPJ.0000000000200430. Epub 2025 Jan 29. PMID: 39896071. PMCID: PMC11781268. |
| Bockholt, H.J., Clemsen, J.D., Baker, B.T., Calhoun, V.D. & Paulsen, J.S. (2026). A Two-Track Model of Huntington’s Disease Pathology: Striatal Atrophy Mediates Maladaptive Immune Dysregulation. International Journal of Molecular Sciences, 27(5), 2384. doi: 10.3390/ijms27052384. Epub 2026 Mar 3. PMID: 41828602 PMCID: PMC12985888. |
| Burks, D.K. & Paulsen, J.S. (2026). Ethical Challenges to the Responsible Communication of Individual Results from Observational Neurodegeneration Research. In Bassil, K.C. & Boyd, J.L. (Eds), Developments in Neuroethics and Bioethics: Public Engagement and Ethics Communication in Brain Research, Innovation, and Health Vol. 9. Cambridge, MA: Academic Press. doi: 10.1016/bs.dnb.2026.02.009. |
| Burks, D.K. & Paulsen, J.S. (2026). Cognitive Liberty and the Return of Individual Research Results from Observational Neurodegeneration Studies: A Narrative Review. Neuroethics 19(27) (2026). doi: https://doi.org/10.1007/s12152-026-09651-7. |
| Ghofrani-Jahromi, M., Amirmoezzi, Y., Abeyasinghe, P.M., Poudel, G.R., Razi, A., Paulsen, J.S., … & Saha, S. (2026). Mapping Regional Brain Aging in Huntington’s Disease Using Structural Magnetic Resonance Imaging and Machine Learning. Movement Disorders, 41(4), 881-888. doi: 10.1002/mds.70160. Epub 2025 Dec 24. PMID: 41439586. |
| Ghofrani-Jahromi, M., Saha, S., Razi, A., Abeyasinghe, P.M., Poudel, G.R., Paulsen, J.S., … & Georgiou-Karistianis, N. (2026). Shape matters: Predicting Huntington’s disease using progression modelling. Computer Methods and Programs in Biomedicine, 277: 109250. doi: 10.1016/j.cmpb.2026.109250. Epub 2026 Jan 15. PMID: 41564629. |
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. |
| Paulsen, J.S. (2024). Understanding Huntington’s Disease and the Latest Research. Dementia Care Network. Virtual |
| Paulsen, J.S., Baker, B.T., Fornage, M., Ferrante, E., Bockholt, H.J. & Biller, J. (2024). Symposium: Biomarkers for Cerebrovascular Contributions to Neurodegeneration: Genetic, Biofluid, and Imaging. Neuroscience 2024. Chicago, IL. October. |
| Paulsen, J.S., Seshadri, S., Hinman, J.D., Fornage, M., Wang, T., Elahi, F., van den Brink, H. & Chabriat, H. (2025). Symposium: Bench to Bedside and Beyond: Understanding Sporadic CSVD Through the Lens of CADASIL and Other Monogenic CSVDs. International Stroke Conference 2025. Los Angeles, CA. February. |
| Bockholt, H.J., Majersik, J.J., Paulsen, J.S., Calhoun, V.D., US CADASIL Consortium. (2026). Quantitative Analysis of Small Vessel Disease Burden in the US CADASIL Consortium using SHIVA-AI Neuroimaging Biomarkers. International Stroke Conference 2026. New Orleans, LA. February. |
| Paulsen, J.S. The United States CADASIL Consortium: Baseline Findings. 4th International CADASIL Meeting. Leiden, the Netherlands. June. |
Poster presentations:
| Bockholt, H.J., Baker, B.T., Joyce, C., Adams, W.H., Clemsen, J., Pasley, N., … & Paulsen, J.S. (2024). Data Fusion in Huntington’s Disease Research: A Holistic Approach to Neuroimaging Biomarkers. International Conference on Alzheimer’s Disease and Parkinson’s Diseases and Related Neurological Disorders. Lisbon, Portugal. March. |
| 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. |
| Bockholt, H.J., Clemsen, J., Chelsky, D., Joyce, C., Adams, W.H., Newton, M.A., … & Paulsen, J.S. (2024). Biofluid and Neuroimaging Markers in Prodromal Huntington’s Disease May Reveal A Multi-Modal Biomarker for Timing of Disease Prevention. 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. |
| Paulsen, J.S., Pinto, A., Bovin, N., Rudrud, M., Mahalingam, E., Janz, M. … & Shannon, K.M. (2024). How Robust Are Biomarkers for the Huntington Disease Continuum? 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. |
| 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., Caprihan, A., Johnson, K.M., Geschwind, M.D., Eisenmenger, L.B., Liebeskind, D.S., Clemsen, J., Adams, W.H., Newton, M.A., Calhoun, V.D., & Paulsen, J.S. (2024). Dynamic and static functional network connectivity distinguish symptomatic and non-symptomatic individuals with CADASIL. Alzheimer’s Association International Conference 2024. Philadelphia, PA. July. |
| Paulsen, J.S., Jayadev, S., Geschwind, M.D., Biller, J., Elliott, J.L., Gutierrez, J., Seshadri, S., Majersik, J.J., Orjuela, K.D., Liebeskind, D.S., Lutsep, H.L., Bockholt, H.J. & Salloway, S. (2024). Unraveling the earliest phases of vascular cognitive impairment and dementia by establishing a large USA CADASIL Consortium. Alzheimer’s Association International Conference 2024. Philadelphia, PA. July. |
| Orjuela, K.D., Jayadev, S., Geschwind, M.D., Biller, J., Elliott, J.L., Gutierrez, J., Seshadri, S., Majersik, J.J., Paulsen, J.S., Liebeskind, D.S., Lutsep, H.L., Bockholt, H.J. & Salloway, S. (2024). Paving the Way for Global Collaborative Research in CADASIL: A Comprehensive Multi-site U.S. Cohort Study. 148th Annual Meeting of the American Neurological Association. Philadelphia, PA. September. |
| Janz, M.L., Adams, W.H., Key, A.M., Burks, D.K., Shannon, K.M. & Paulsen, J.S. (2024). Investigating Interrater Reliability of the Unified Huntington’s Disease Rating Scale Motor Component Between Learner and Experienced Rater. International Parkinson and Movement Disorder Society 2024 Congress. Philadelphia, PA. September. |
| Baker, B.T., Clemsen, J.D., Johnson, H., Paulsen, J.S. & Bockholt, H.J. (2024). Cross-sectional analysis of cerebral white matter parcellation in Huntington’s disease using 3T MRI scans with FreeSurfer. Neuroscience 2024. Chicago, IL. October. |
| Bockholt, H.J, Key, A.M., Clemsen, J.D., Baker, B.T., Rudrud, M.S., Johnson, H. & Paulsen, J.S. (2024). Cross-sectional analysis of cortical changes in Huntington’s disease using 3T MRI. Neuroscience 2024. Chicago, IL. October. |
| Clemsen, J.D., Key, A.M., Rudrud, M.S., Baker, B.T., Johnson, H., Paulsen, J.S. & Bockholt, H.J. (2024). Cross-sectional analysis of white matter integrity in Huntington’s disease using 3T diffusion tensor imaging. Neuroscience 2024. Chicago, IL. October. |
| Paulsen, J.S., Pinto, A., Bovin, N.A., Clemsen, J.D., Key, A.M., Rudrud, M.S., Janz, M.L., Adams, W.H., Bockholt, H.J., Burks, D.K & Shannon, K.M. (2024). Systematic review of wet biomarkers to advance clinical trials in Huntington’s disease: Methodological and training implications. Neuroscience 2024. Chicago, IL. October. |
| Rudrud, M.S., Adams, W.H., Baker, B.T., Clemsen, J.D., Key, A.M., Johnson, H., Burks, D.K. & Paulsen, J.S. (2024). Neuroimaging associations of smell deficits in prodromal Huntington’s disease. Neuroscience 2024. Chicago, IL. October. |
| Key, A.M., Bruehl, N., Minix, N., Bockholt, H.J., Geschwind, M.D. & Paulsen, J.S. (2024). Comprehensive Observational Study on the Genetic Basis of CADASIL: Insights into a Complex Neurological Disorder. American Society of Human Genetics 2024 Annual Meeting. Denver, CO. November. |
| Vander Groef, T., Burks, D.K., Minix, N. & Paulsen, J.S. (2024). Psychological effects of a predictive neurodegenerative disease diagnosis. American Society for Human Genetics 2024 Annual Meeting. Denver, CO. November. |
| Key, A.M., Pinto, A., Adams, W.H., Possin, K.L., Burks, D.K & Paulsen, J.S. (2024). Tablet-Based Cognitive Assessment Demonstrates Valid Assessment of Prodromal Huntington’s Disease. National Academy of Neuropsychology 2024 Annual Meeting. Austin, TX. November. |
| Caruso, M.R., Salloway, S., Bockholt, H.J., Burks, D.K. & Paulsen, J.S. (2024). Pregnancy Outcomes in CADASIL: Comparing Complications Between NOTCH3 Mutation Carriers and Gene Negative Biological Family Members. Paris CADASIL Meeting 2024. Paris, France. November. |
| Key, A.M., Bockholt, H.J., Baker, B.T. & Paulsen, J.S. (2025). Static and Dynamic Functional Network Connectivity Differences Related to SDMT Performance in Premanifest Huntington’s Disease. 52nd Annual Meeting of the International Neuropsychological Society. New Orleans, LA. February. |
| Burks, D.K. & Paulsen, J.S. (2025). Cognitive Liberty and the Return of Individual Research Results from Observational Neurodegeneration Studies. Neuroethics 2025. Munich, Germany. April. |
Clemsen, J.D., Bockholt, H.J., Scherzer, C. & Paulsen, J.S. (2025). Cross-biofluid miRNA biomarker validation in Huntington’s disease. Neuroscience 2025. San Diego, CA. November. |
| Caruso, M.R., Adams, W.H., Bockholt, H.J., Burks, D.K., Huey, E.D., Salloway, S.P. & Paulsen, J.S. (2026). Pregnancy Complications as a Risk Factor for Earlier Cerebrovascular Events in CADASIL Consortium Patients. International Stroke Conference 2026. New Orleans, LA. February. |
| Burks, D.K., Vander Groef, T., Roby, M., Clark, L.R., Ketchum, F.B., Croes, K.D., & Paulsen, J.S. (2026). Literature review of stakeholder attitudes towards the return of individual research results from clinical neurodegenerative research. Neuroethics 2026. Stanford, CA. April. |
| Baker, B.T., Clemsen, J.D., Bockholt, H.J., Calhoun, V.D. & Paulsen, J.S. (2026). Uncovering the Structural Brain Age Gap in Huntington’s Disease with Large-Scale Normative Modeling. Organization for Human Brain Mapping 2026 Annual Meeting. Bordeaux, France. June. |
| Bockholt, H.J., Manam, S., Trinh, D. & Paulsen, J.S. (2026). Bridging Fluid and Imaging: A Pipeline for Integrating NULISA Proteomics with QSM Iron Mapping. Organization for Human Brain Mapping 2026 Annual Meeting. Bordeaux, France. June. |
| Clemsen, J.D., Bockholt, H.J., Baker, B.T. & Paulsen, J.S. (2026). CSF Cytokine Patterns Mirror Striatal Atrophy in Huntington’s Disease. Organization for Human Brain Mapping 2026 Annual Meeting. Bordeaux, France. June. |
| Burks, D.K., Vander Groef, T., Rehfeld, A. & Paulsen, J.S. (2026). A Scoping Review of the Psychological Effects of Genetic Testing for Huntington’s Disease. 7th ELSI Congress. Chapel Hill, NC. June. |
| Bockholt, H.J., Geschwind, M.D., Huey, E.D., Elliott, J.E., Krishnamurthy, L.C., Majersik, J.J., … & Paulsen, J.S. (2026). The United States CADASIL Consortium: Baseline Findings from a Study of Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy. Alzheimer’s Association International Conference. London, United Kingdom, July. |
| Bockholt, H.J., Salardini, A., Liebeskind, D.S., Majersik, J.J., Baker, B.T., Krishnamurthy, L.C. … & Paulsen, J.S. (2026). Quantitative white matter hyperintensity burden and NOTCH3 genotype risk in CADASIL: baseline findings from the United States CADASIL Consortium. Alzheimer’s Association International Conference 2026. London, United Kingdom. July. |
| Burks, D.K., Penziner, E., Clark, L.R., Ketchum, F.B., Croes, K.D. & Paulsen, J.S. (2026). Participant Attitudes Toward Returning Individual Results From Observational Research In CADASIL. Alzheimer’s Association International Conference 2026. London, United Kingdom. July. |
| Salardini, A., Fischer, B.L., Pinto, A., Saurman, J.L., Montserratt, L., Rodriguez, T.T., … & Paulsen, J.S. (2026). Executive Dysfunction as the Cardinal Cognitive Feature of CADASIL: Baseline Findings from the United States CADASIL Consortium. Alzheimer’s Association International Conference. London, United Kingdom, July. |
CONTACT
Clinical Science Center at the UW University Hospital, 600 Highland Ave, Madison, WI 53705
