Pathophysiology of Parkinson's Disease

Displaying 1 - 44 of 44CSV
Chahine, L. M., Lafontant, D.-E., Choi, S. H., Iwaki, H., Blauwendraat, C., Singleton, A. B., Brumm, M. C., Alcalay, R. N., Merchant, K., Nudelman, K. N. H., Dagher, A., Vo, A., Tao, Q., Venuto, C. S., Kieburtz, K., Poston, K. L., Bressman, S., Gonzalez-Latapi, P., Avants, B., … Tolosa, E. (2025). LRRK2-associated parkinsonism with and without in vivo evidence of alpha-synuclein aggregates: longitudinal clinical and biomarker characterization. Brain Communications, 7(2). https://doi.org/10.1093/braincomms/fcaf103
Publication Date
Goldstein, O., Shani, S., Gana-Weisz, M., Elkoshi, N., Casey, F., Sun, Y. H., Chandratre, K., Cedarbaum, J. M., Blauwendraat, C., Bar-Shira, A., Thaler, A., Gurevich, T., Mirelman, A., Giladi, N., Orr-Urtreger, A., & Alcalay, R. N. (2025). The effect of polygenic risk score on PD risk and phenotype in LRRK2 G2019S and GBA1 carriers. Journal of Parkinson’s Disease. https://doi.org/10.1177/1877718x241310722
Publication Date
Lee, I., Mitsumoto, H., Lee, S., Kasarskis, E., Rosenbaum, M., Factor‐Litvak, P., & Nieves, J. W. (2025). Interaction between riluzole treatment and dietary glycemic index in the disease progression of amyotrophic lateral sclerosis. Annals of Clinical and Translational Neurology. Portico. https://doi.org/10.1002/acn3.52294
Publication Date
Williams, G. P., Freuchet, A., Michaelis, T., Frazier, A., Tran, N. K., Rodrigues Lima-Junior, J., Phillips, E. J., Mallal, S. A., Litvan, I., Goldman, J. G., Alcalay, R. N., Sidney, J., Sulzer, D., Sette, A., & Lindestam Arlehamn, C. S. (2024). PINK1 is a target of T cell responses in Parkinson’s disease. Journal of Clinical Investigation. https://doi.org/10.1172/jci180478
Publication Date
Jones-Tabah, J., He, K., Karpilovsky, N., Senkevich, K., Deyab, G., Pietrantonio, I., Goiran, T., Cousineau, Y., Nikanorova, D., Goldsmith, T., del Cid Pellitero, E., Chen, C. X.-Q., Luo, W., You, Z., Abdian, N., Ahmad, J., Ruskey, J. A., Asayesh, F., Spiegelman, D., … Fon, E. A. (2024). The Parkinson’s disease risk gene cathepsin B promotes fibrillar alpha-synuclein clearance, lysosomal function and glucocerebrosidase activity in dopaminergic neurons. Molecular Neurodegeneration, 19(1). https://doi.org/10.1186/s13024-024-00779-9
Publication Date
Aivalioti, E., Georgiopoulos, G., Tual-Chalot, S., Bampatsias, D., Delialis, D., Sopova, K., Drakos, S. G., Stellos, K., & Stamatelopoulos, K. (2024). Amyloid-beta metabolism in age-related neurocardiovascular diseases. European Heart Journal. https://doi.org/10.1093/eurheartj/ehae655
Publication Date
Lettenberger, S. E., Hartman, E. A., Tam, K., Auinger, P., Pawlik, M. E., Wilson, R., Banda, E. T., Valdovinos, B., Kinel, D., Alcalay, R. N., Dorsey, E. R., Norcliffe-Kaufmann, L., Sharma, S., Holloway, R. G., & Schneider, R. B. (2024). Return of individual research results to participants with and at risk for Parkinson’s disease. Journal of Clinical and Translational Science, 8(1). https://doi.org/10.1017/cts.2024.616
Publication Date
Shiner, T., Kavé, G., Mirelman, A., Regev, K., Piura, Y., Goldstein, O., Gana Weisz, M., Bar‐Shira, A., Gurevich, T., Orr‐Urtreger, A., Alcalay, R. N., Giladi, N., & Bregman, N. (2024). Effect of GBA1 Mutations and APOE Polymorphisms on Survival and Progression Among Ashkenazi Jews with Dementia with Lewy Bodies. Movement Disorders. Portico. https://doi.org/10.1002/mds.30003
Publication Date
Kumar, A., Matulis, K. L., Fadel, Z. A., Fanning, A. S., Amlang, C. J., & Kuo, S.-H. (2024). Effects of Low-Frequency Deep Brain Stimulation in Bilateral Zona Incerta for a Patient With Tremor and Cerebellar Ataxia. Tremor and Other Hyperkinetic Movements, 14, 42. https://doi.org/10.5334/tohm.925
Publication Date
Cook, L., Verbrugge, J., Schwantes-An, T.-H., Schulze, J., Foroud, T., Hall, A., Marder, K. S., Mata, I. F., Mencacci, N. E., Nance, M. A., Schwarzschild, M. A., Simuni, T., Bressman, S., Wills, A.-M., Fernandez, H. H., Litvan, I., Lyons, K. E., Shill, H. A., Singer, C., … Alcalay, R. N. (2024). Parkinson’s disease variant detection and disclosure: PD GENEration, a North American study. Brain, 147(8), 2668–2679. https://doi.org/10.1093/brain/awae142
Publication Date
Fu, C., Yang, N., Chuang, J.-Z., Nakajima, N., Iraha, S., Roy, N., Wu, Z., Jiang, Z., Otsu, W., Radu, R. A., Yang, H. H., Lee, M. P., Worgall, T. S., Xiong, W.-C., & Sung, C.-H. (2024). Mutant mice with rod-specific VPS35 deletion exhibit retinal α-synuclein pathology-associated degeneration. Nature Communications, 15(1). https://doi.org/10.1038/s41467-024-50189-0
Publication Date
LoPiccolo, M. K., Wang, Z., Eshed, G. M., Fierro, L., Stauffer, C., Wang, K., Zhang, J., Tatsuoka, C., Balwani, M., Zou, W., & Alcalay, R. N. (2024). Skin α‐Synuclein Seeding Activity in Patients with Type 1 Gaucher Disease. Movement Disorders. Portico. https://doi.org/10.1002/mds.29935
Publication Date
Smilowska, K., Mehanna, R., Fleisher, J. E., Alcalay, R. N., Kumar, K. R., Marras, C., Oosterbaan, A. M., Post, B., Ross, O. A., Pimentel Piemonte, M. E., Fraix, V., Moro, E., King Tan, E., & Savica, R. (2024). Unmet Need in Early-Onset Parkinson’s Disease: Deep Brain Stimulation and Pregnancy. Journal of Parkinson’s Disease, 1–6. https://doi.org/10.3233/jpd-240088
Publication Date
Chia, R., Ray, A., Shah, Z., Ding, J., Ruffo, P., Fujita, M., Menon, V., Saez-Atienzar, S., Reho, P., Kaivola, K., Walton, R. L., Reynolds, R. H., Karra, R., Sait, S., Akcimen, F., Diez-Fairen, M., Alvarez, I., Fanciulli, A., Stefanova, N., … Scholz, S. W. (2024). Genome sequence analyses identify novel risk loci for multiple system atrophy. Neuron, 112(13), 2142-2156.e5. https://doi.org/10.1016/j.neuron.2024.04.002
Publication Date
Kumbier, K., Roth, M., Li, Z., Lazzari-Dean, J., Waters, C., Hammerlindl, S., Rinaldi, C., Huang, P., Korobeynikov, V. A., Phatnani, H., Shneider, N., Jacobson, M. P., Wu, L. F., & Altschuler, S. J. (2024). Identifying FUS amyotrophic lateral sclerosis disease signatures in patient dermal fibroblasts. Developmental Cell. https://doi.org/10.1016/j.devcel.2024.05.011
Publication Date
Wang, H.-P., Scalco, R., Saito, N., Beckett, L., Nguyen, M.-L., Huie, E. Z., Honig, L. S., DeCarli, C., Rissman, R. A., Teich, A. F., Mungas, D. M., Jin, L.-W., & Dugger, B. N. (2024). The neuropathological landscape of small vessel disease and Lewy pathology in a cohort of Hispanic and non-Hispanic White decedents with Alzheimer disease. Acta Neuropathologica Communications, 12(1). https://doi.org/10.1186/s40478-024-01773-4
Publication Date
Heisler, J. M., Toledo-Atucha, J., Lin, C.-C., Patel, H. N., & Ondo, W. G. (2024). Orthostatic hypotension and subjective symptomatic orthostasis in Parkinson’s disease: Associations and correlations. Clinical Parkinsonism & Related Disorders, 11, 100262. https://doi.org/10.1016/j.prdoa.2024.100262
Publication Date
Shani, S., Gana-Weisz, M., Bar-Shira, A., Thaler, A., Gurevich, T., Mirelman, A., Giladi, N., Alcalay, R. N., Goldstein, O., & Orr-Urtreger, A. (2023). MAPT Locus in Parkinson’s Disease Patients of Ashkenazi Origin: A Stratified Analysis. Genes, 15(1), 46. https://doi.org/10.3390/genes15010046
Publication Date
Middleton, J., MacLeod, K. R., Bozoki, A., Galvin, J. E., Irwin, D. J., Lippa, C., Litvan, I., Lopez, O. L., Berman, S., Tsuang, D. W., Zabetian, C. P., Honig, L. S., Marder, K., Fleisher, J. E., Sabbagh, M., Wint, D., Taylor, A., Bekris, L. M., Leverenz, J. B., & Galasko, D. R. (2023). Use of α‐synuclein seed amplification assays to assess how clinical features relate to the diagnosis of Dementia with Lewy Bodies. Alzheimer’s & Dementia, 19(S14). Portico. https://doi.org/10.1002/alz.078103
Publication Date
Mitsumoto, H., Cheung, K., Oskarsson, B., Andrews, H. F., Jang, G. E., Andrews, J. A., Shah, J. S., Fernandes, J. A., McElhiney, M., & Santella, R. M. (2023). Randomized double-blind personalized N-of-1 clinical trial to test the safety and potential efficacy of TJ-68 for treating muscle cramps in amyotrophic lateral sclerosis (ALS): study protocol for a TJ-68 trial. Trials, 24(1). https://doi.org/10.1186/s13063-023-07424-8
Publication Date
Lee, I., Mitsumoto, H., Lee, S., Kasarskis, E., Rosenbaum, M., Factor‐Litvak, P., & Nieves, J. W. (2023). Higher Glycemic Index and Glycemic Load Diet Is Associated with Slower Disease Progression in Amyotrophic Lateral Sclerosis. Annals of Neurology, 95(2), 217–229. Portico. https://doi.org/10.1002/ana.26825
Publication Date
Ré, D. B., & Rideout, H. J. (2023). Why the Gut Microbiome Must Be Considered When Evaluating the Impact of Pesticides on Parkinson’s Disease Risk. Journal of Parkinson’s Disease, 13(7), 1077–1078. https://doi.org/10.3233/jpd-239004
Publication Date
Garretti, F., Monahan, C., Sloan, N., Bergen, J., Shahriar, S., Kim, S. W., Sette, A., Cutforth, T., Kanter, E., Agalliu, D., & Sulzer, D. (2023). Interaction of an α-synuclein epitope with HLA-DRB1∗15:01 triggers enteric features in mice reminiscent of prodromal Parkinson’s disease. Neuron, 111(21), 3397-3413.e5. https://doi.org/10.1016/j.neuron.2023.07.015
Publication Date
Rekova, P., Dostalova, G., Rob, D., Vaneckova, M., Pavlicova, M., Linhart, A., & Kemlink, D. (2023). Cerebrovascular Phenotype in Fabry Disease Patients Assessed by Ultrasound. Journal of Ultrasound in Medicine, 42(10), 2315–2330. Portico. https://doi.org/10.1002/jum.16254
Publication Date
Qi, R., Sammler, E., Gonzalez-Hunt, C. P., Barraza, I., Pena, N., Rouanet, J. P., Naaldijk, Y., Goodson, S., Fuzzati, M., Blandini, F., Erickson, K. I., Weinstein, A. M., Lutz, M. W., Kwok, J. B., Halliday, G. M., Dzamko, N., Padmanabhan, S., Alcalay, R. N., Waters, C., … Sanders, L. H. (2023). A blood-based marker of mitochondrial DNA damage in Parkinson’s disease. Science Translational Medicine, 15(711). https://doi.org/10.1126/scitranslmed.abo1557
Publication Date
Pal, G., Cook, L., Schulze, J., Verbrugge, J., Alcalay, R. N., Merello, M., Sue, C. M., Bardien, S., Bonifati, V., Chung, S. J., Foroud, T., Gatto, E., Hall, A., Hattori, N., Lynch, T., Marder, K., Mascalzoni, D., Novaković, I., Thaler, A., … Klein, C. (2023). Genetic Testing in Parkinson’s Disease. Movement Disorders, 38(8), 1384–1396. Portico. https://doi.org/10.1002/mds.29500
Publication Date
Blauwendraat, C., Tayebi, N., Woo, E. G., Lopez, G., Fierro, L., Toffoli, M., Limbachiya, N., Hughes, D., Pitz, V., Patel, D., Vitale, D., Koretsky, M. J., Hernandez, D., Real, R., Alcalay, R. N., Nalls, M. A., Morris, H. R., Schapira, A. H. V., Balwani, M., & Sidransky, E. (2023). Polygenic Parkinson’s Disease Genetic Risk Score as Risk Modifier of Parkinsonism in Gaucher Disease. Movement Disorders, 38(5), 899–903. Portico. https://doi.org/10.1002/mds.29342
Publication Date
Vöglein, J., Franzmeier, N., Morris, J. C., Dieterich, M., McDade, E., Simons, M., Preische, O., Hofmann, A., Hassenstab, J., Benzinger, T. L., Fagan, A., Noble, J. M., Berman, S. B., Graff‐Radford, N. R., Ghetti, B., Farlow, M. R., Chhatwal, J. P., Salloway, S., … Xiong, C. (2022). Pattern and implications of neurological examination findings in autosomal dominant Alzheimer disease. Alzheimer’s & Dementia, 19(2), 632–645. Portico. https://doi.org/10.1002/alz.12684
Publication Date
Williams, G. P., Muskat, K., Frazier, A., Xu, Y., Mateus, J., Grifoni, A., da Silva Antunes, R., Weiskopf, D., Amara, A. W., Standaert, D. G., Goldman, J. G., Litvan, I., Alcalay, R. N., Sulzer, D., Lindestam Arlehamn, C. S., & Sette, A. (2023). Unaltered T cell responses to common antigens in individuals with Parkinson’s disease. Journal of the Neurological Sciences, 444, 120510. https://doi.org/10.1016/j.jns.2022.120510
Publication Date
Lin, C. R., Amokrane, N., Chen, S., Chen, T. X., Lai, R., Trinh, P., Minyetty, M. J., Emmerich, H., Pan, M., Claassen, D. O., & Kuo, S. (2022). Cerebellar impulsivity–compulsivity assessment scale. Annals of Clinical and Translational Neurology, 10(1), 48–57. Portico. https://doi.org/10.1002/acn3.51698
Publication Date
Kedariti, M., Frattini, E., Baden, P., Cogo, S., Civiero, L., Ziviani, E., Zilio, G., Bertoli, F., Aureli, M., Kaganovich, A., Cookson, M. R., Stefanis, L., Surface, M., Deleidi, M., Di Fonzo, A., Alcalay, R. N., Rideout, H., Greggio, E., & Plotegher, N. (2022). LRRK2 kinase activity regulates GCase level and enzymatic activity differently depending on cell type in Parkinson’s disease. Npj Parkinson’s Disease, 8(1). https://doi.org/10.1038/s41531-022-00354-3
Publication Date
Avisar, H., Guardia-Laguarta, C., Surface, M., Papagiannakis, N., Maniati, M., Antonellou, R., Papadimitriou, D., Koros, C., Athanassiadou, A., Przedborski, S., Lerner, B., Stefanis, L., Area-Gomez, E., & Alcalay, R. N. (2022). Lipid level alteration in human and cellular models of alpha synuclein mutations. Npj Parkinson’s Disease, 8(1). https://doi.org/10.1038/s41531-022-00313-y
Publication Date
Dhanwani, R., Lima-Junior, J. R., Sethi, A., Pham, J., Williams, G., Frazier, A., Xu, Y., Amara, A. W., Standaert, D. G., Goldman, J. G., Litvan, I., Alcalay, R. N., Peters, B., Sulzer, D., Arlehamn, C. S. L., & Sette, A. (2022). Transcriptional analysis of peripheral memory T cells reveals Parkinson’s disease-specific gene signatures. Npj Parkinson’s Disease, 8(1). https://doi.org/10.1038/s41531-022-00282-2
Publication Date
Hopfner, F., Tietz, A. K., Ruf, V. C., Ross, O. A., Koga, S., Dickson, D., Aguzzi, A., Attems, J., Beach, T., Beller, A., Cheshire, W. P., van Deerlin, V., Desplats, P., Deuschl, G., Duyckaerts, C., Ellinghaus, D., Evsyukov, V., Flanagan, M. E., Franke, A., … Höglinger, G. (2022). Common Variants Near ZIC1 and ZIC4 in Autopsy‐Confirmed Multiple System Atrophy. Movement Disorders, 37(10), 2110–2121. Portico. https://doi.org/10.1002/mds.29164
Publication Date
Dvir, D., Unbehaun, A., Kodali, S., Tchetche, D., Pibarot, P., Leipsic, J., Blanke, P., Gerckens, U., Manoharan, G., Kempfert, J., Abdel-Wahab, M., Klein, C., Leon, M., Harari, E., Hellou, E., Wolak, A., Ben-Assa, E., Ju’beh, R., Shoby, M., & Koifman, E. (2022). TCT-506 First Dedicated Leaflet Splitting Device for Prevention of Coronary Obstruction in Transcatheter Aortic Valve Replacement: From Bench Evaluation to First-in-Human Procedures. Journal of the American College of Cardiology, 80(12), B206. https://doi.org/10.1016/j.jacc.2022.08.597
Publication Date
Hallacli, E., Kayatekin, C., Nazeen, S., Wang, X. H., Sheinkopf, Z., Sathyakumar, S., Sarkar, S., Jiang, X., Dong, X., Di Maio, R., Wang, W., Keeney, M. T., Felsky, D., Sandoe, J., Vahdatshoar, A., Udeshi, N. D., Mani, D. R., Carr, S. A., Lindquist, S., … Khurana, V. (2022). The Parkinson’s disease protein alpha-synuclein is a modulator of processing bodies and mRNA stability. Cell, 185(12), 2035-2056.e33. https://doi.org/10.1016/j.cell.2022.05.008
Publication Date
Du, W., Bain, P. G., Defazio, G., Jankovic, J., Kim, C. Y., Tan, E. K., Vidailhet, M., & Louis, E. D. (2022). The Conundrum of Dystonia in Essential Tremor Patients: How does One Classify these Cases? Tremor and Other Hyperkinetic Movements, 12(1). https://doi.org/10.5334/tohm.690
Publication Date
Chang, A., Xiang, X., Wang, J., Lee, C., Arakhamia, T., Simjanoska, M., Wang, C., Carlomagno, Y., Zhang, G., Dhingra, S., Thierry, M., Perneel, J., Heeman, B., Forgrave, L. M., DeTure, M., DeMarco, M. L., Cook, C. N., Rademakers, R., Dickson, D. W., … Fitzpatrick, A. W. P. (2022). Homotypic fibrillization of TMEM106B across diverse neurodegenerative diseases. Cell, 185(8), 1346-1355.e15. https://doi.org/10.1016/j.cell.2022.02.026
Publication Date
Dong, C., Honrao, C., Rodrigues, L. O., Wolf, J., Sheehan, K. B., Surface, M., Alcalay, R. N., & O’Day, E. M. (2022). Plasma Metabolite Signature Classifies Male LRRK2 Parkinson’s Disease Patients. Metabolites, 12(2), 149. https://doi.org/10.3390/metabo12020149
Publication Date
Peterschmitt, M. J., Saiki, H., Hatano, T., Gasser, T., Isaacson, S. H., Gaemers, S. J. M., Minini, P., Saubadu, S., Sharma, J., Walbillic, S., Alcalay, R. N., Cutter, G., Hattori, N., Höglinger, G. U., Marek, K., Schapira, A. H. V., Scherzer, C. R., Simuni, T., … Fischer, T. Z. (2022). Safety, Pharmacokinetics, and Pharmacodynamics of Oral Venglustat in Patients with Parkinson’s Disease and a GBA Mutation: Results from Part 1 of the Randomized, Double-Blinded, Placebo-Controlled MOVES-PD Trial. Journal of Parkinson’s Disease, 12(2), 557–570. https://doi.org/10.3233/jpd-212714
Publication Date