2,042 results on '"Wszolek, Zbigniew K."'
Search Results
52. Novel Neuroimaging Pattern in POLR3A -Related Disorder on 7T MRI
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Dulski, Jaroslaw, primary, Middlebrooks, Erik H., additional, and Wszolek, Zbigniew K., additional
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- 2024
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53. miRNA family miR-29 inhibits PINK1-PRKN dependent mitophagy via ATG9A
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Markham, Briana N, primary, Ramnarine, Chloe, additional, Kim, Songeun, additional, Grever, William E, additional, Soto-Beasley, Alexandra I, additional, Heckman, Michael, additional, Ren, Yingxue, additional, Osborne, Andrew C, additional, Bhagwate, Aditya V, additional, Liu, Yuanhang, additional, Wang, Chen, additional, Kim, Jungsu, additional, Wszolek, Zbigniew K, additional, Ross, Owen A, additional, Springer, Wolfdieter, additional, and Fiesel, Fabienne C, additional
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- 2024
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54. TMEM106B core deposition associates with TDP-43 pathology and is increased in risk SNP carriers for frontotemporal dementia
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Marks, Jordan D., primary, Ayuso, Virginia Estades, additional, Carlomagno, Yari, additional, Yue, Mei, additional, Todd, Tiffany W., additional, Hao, Ying, additional, Li, Ziyi, additional, McEachin, Zachary T., additional, Shantaraman, Anantharaman, additional, Duong, Duc M., additional, Daughrity, Lillian M., additional, Jansen-West, Karen, additional, Shao, Wei, additional, Calliari, Anna, additional, Bejarano, Jesus Gonzalez, additional, DeTure, Michael, additional, Rawlinson, Bailey, additional, Casey, Monica Castanedes, additional, Lilley, Meredith T., additional, Donahue, Megan H., additional, Jawahar, Vidhya Maheswari, additional, Boeve, Bradley F., additional, Petersen, Ronald C., additional, Knopman, David S., additional, Oskarsson, Björn, additional, Graff-Radford, Neill R., additional, Wszolek, Zbigniew K., additional, Dickson, Dennis W., additional, Josephs, Keith A., additional, Qi, Yue A., additional, Seyfried, Nicholas T., additional, Ward, Michael E., additional, Zhang, Yong-Jie, additional, Prudencio, Mercedes, additional, Petrucelli, Leonard, additional, and Cook, Casey N., additional
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- 2024
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55. Genetics of Parkinson’s Disease: state-of-the-art and role in clinical settings
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Dulski, Jarosław, primary, Ross, Owen A., additional, and Wszolek, Zbigniew K., additional
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- 2024
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56. Correction to: Apolipoprotein E regulates lipid metabolism and α‑synuclein pathology in human iPSC‑derived cerebral organoids
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Zhao, Jing, Lu, Wenyan, Ren, Yingxue, Fu, Yuan, Martens, Yuka A., Shue, Francis, Davis, Mary D., Wang, Xue, Chen, Kai, Li, Fuyao, Liu, Chia-Chen, Graff-Radford, Neill R., Wszolek, Zbigniew K., Younkin, Steven G., Brafman, David A., Ertekin-Taner, Nilüfer, Asmann, Yan W., Dickson, Dennis W., Xu, Ziying, Pan, Meixia, Han, Xianlin, Kanekiyo, Takahisa, and Bu, Guojun
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- 2022
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57. Clinical features of autopsy-confirmed multiple system atrophy in the Mayo Clinic Florida brain bank
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Koga, Shunsuke, Cheshire, William P., Tipton, Philip W., Driver-Dunckley, Erika D., Wszolek, Zbigniew K., Uitti, Ryan J., Graff-Radford, Neill R., van Gerpen, Jay A., and Dickson, Dennis W.
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- 2021
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58. Inhibition of colony stimulating factor-1 receptor (CSF-1R) as a potential therapeutic strategy for neurodegenerative diseases: opportunities and challenges
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Han, Jinming, Chitu, Violeta, Stanley, E. Richard, Wszolek, Zbigniew K., Karrenbauer, Virginija Danylaité, and Harris, Robert A.
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- 2022
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59. Fine-mapping of the non-coding variation driving the Caucasian LRRK2 GWAS signal in Parkinson's disease
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Heckman, Michael G., Labbé, Catherine, Kolicheski, Ana L., Soto-Beasley, Alexandra I., Walton, Ronald L., Valentino, Rebecca R., Brennan, Emily R., Johnson, Patrick W., Baheti, Saurabh, Sarangi, Vivekananda, Ren, Yingxue, Uitti, Ryan J., Wszolek, Zbigniew K., and Ross, Owen A.
- Published
- 2021
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60. Latent trait modeling of tau neuropathology in progressive supranuclear palsy
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Kouri, Naomi, Murray, Melissa E., Reddy, Joseph S., Serie, Daniel J., Soto-Beasley, Alexandra, Allen, Mariet, Carrasquillo, Minerva M., Wang, Xue, Castanedes, Monica Casey, Baker, Matthew C., Rademakers, Rosa, Uitti, Ryan J., Graff-Radford, Neill R., Wszolek, Zbigniew K., Schellenberg, Gerard D., Crook, Julia E., Ertekin-Taner, Nilüfer, Ross, Owen A., and Dickson, Dennis W.
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- 2021
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61. Association of GBA Mutations and the E326K Polymorphism With Motor and Cognitive Progression in Parkinson Disease
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Davis, Marie Y, Johnson, Catherine O, Leverenz, James B, Weintraub, Daniel, Trojanowski, John Q, Chen-Plotkin, Alice, Van Deerlin, Vivianna M, Quinn, Joseph F, Chung, Kathryn A, Peterson-Hiller, Amie L, Rosenthal, Liana S, Dawson, Ted M, Albert, Marilyn S, Goldman, Jennifer G, Stebbins, Glenn T, Bernard, Bryan, Wszolek, Zbigniew K, Ross, Owen A, Dickson, Dennis W, Eidelberg, David, Mattis, Paul J, Niethammer, Martin, Yearout, Dora, Hu, Shu-Ching, Cholerton, Brenna A, Smith, Megan, Mata, Ignacio F, Montine, Thomas J, Edwards, Karen L, and Zabetian, Cyrus P
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Biomedical and Clinical Sciences ,Neurosciences ,Clinical Sciences ,Dementia ,Neurodegenerative ,Acquired Cognitive Impairment ,Clinical Research ,Genetics ,Aging ,Brain Disorders ,Parkinson's Disease ,Aetiology ,2.1 Biological and endogenous factors ,Neurological ,Aged ,Cognitive Dysfunction ,Disease Progression ,Female ,Glucosylceramidase ,Humans ,Longitudinal Studies ,Male ,Middle Aged ,Mutation ,Parkinson Disease ,Polymorphism ,Genetic - Abstract
ImportanceParkinson disease (PD) is heterogeneous in symptom manifestation and rate of progression. Identifying factors that influence disease progression could provide mechanistic insight, improve prognostic accuracy, and elucidate novel therapeutic targets.ObjectiveTo determine whether GBA mutations and the E326K polymorphism modify PD symptom progression.Design, setting, and participantsThe entire GBA coding region was screened for mutations and E326K in 740 patients with PD enrolled at 7 sites from the PD Cognitive Genetics Consortium. Detailed longitudinal motor and cognitive assessments were performed with patients in the on state.Main outcomes and measuresLinear regression was used to test for an association between GBA genotype and motor progression, with the Movement Disorder Society-sponsored version of the Unified Parkinson's Disease Rating Scale Part III (MDS-UPDRS III) score at the last assessment as the outcome and GBA genotype as the independent variable, with adjustment for levodopa equivalent dose, sex, age, disease duration, MDS-UPDRS III score at the first assessment, duration of follow-up, and site. Similar methods were used to examine the association between genotype and tremor and postural instability and gait difficulty (PIGD) scores. To examine the effect of GBA genotype on cognitive progression, patients were classified into those with conversion to mild cognitive impairment or dementia during the study (progression) and those without progression. The association between GBA genotype and progression status was then tested using logistic regression, adjusting for sex, age, disease duration, duration of follow-up, years of education, and site.ResultsOf the total sample of 733 patients who underwent successful genotyping, 226 (30.8%) were women and 507 (69.2%) were men (mean [SD] age, 68.1 [8.8] years). The mean (SD) duration of follow-up was 3.0 (1.7) years. GBA mutations (β = 4.65; 95% CI, 1.72-7.58; P = .002), E326K (β = 3.42; 95% CI, 0.66-6.17; P = .02), and GBA variants combined as a single group (β = 4.01; 95% CI, 1.95-6.07; P = 1.5 × 10-4) were associated with a more rapid decline in MDS-UPDRS III score. Combined GBA variants (β = 0.38; 95% CI, 0.23-0.53; P = .01) and E326K (β = 0.64; 95% CI, 0.43-0.86; P = .002) were associated with faster progression in PIGD scores, but not in tremor scores. A significantly higher proportion of E326K carriers (10 of 21 [47.6%]; P = .01) and GBA variant carriers (15 of 39 [38.5%]; P = .04) progressed to mild cognitive impairment or dementia.Conclusions and relevanceGBA variants predict a more rapid progression of cognitive dysfunction and motor symptoms in patients with PD, with a greater effect on PIGD than tremor. Thus, GBA variants influence the heterogeneity in symptom progression observed in PD.
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- 2016
62. Genome sequencing analysis identifies new loci associated with Lewy body dementia and provides insights into its genetic architecture
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Chia, Ruth, Sabir, Marya S., Bandres-Ciga, Sara, Saez-Atienzar, Sara, Reynolds, Regina H., Gustavsson, Emil, Walton, Ronald L., Ahmed, Sarah, Viollet, Coralie, Ding, Jinhui, Makarious, Mary B., Diez-Fairen, Monica, Portley, Makayla K., Shah, Zalak, Abramzon, Yevgeniya, Hernandez, Dena G., Blauwendraat, Cornelis, Stone, David J., Eicher, John, Parkkinen, Laura, Ansorge, Olaf, Clark, Lorraine, Honig, Lawrence S., Marder, Karen, Lemstra, Afina, St George-Hyslop, Peter, Londos, Elisabet, Morgan, Kevin, Lashley, Tammaryn, Warner, Thomas T., Jaunmuktane, Zane, Galasko, Douglas, Santana, Isabel, Tienari, Pentti J., Myllykangas, Liisa, Oinas, Minna, Cairns, Nigel J., Morris, John C., Halliday, Glenda M., Van Deerlin, Vivianna M., Trojanowski, John Q., Grassano, Maurizio, Calvo, Andrea, Mora, Gabriele, Canosa, Antonio, Floris, Gianluca, Bohannan, Ryan C., Brett, Francesca, Gan-Or, Ziv, Geiger, Joshua T., Moore, Anni, May, Patrick, Krüger, Rejko, Goldstein, David S., Lopez, Grisel, Tayebi, Nahid, Sidransky, Ellen, Norcliffe-Kaufmann, Lucy, Palma, Jose-Alberto, Kaufmann, Horacio, Shakkottai, Vikram G., Perkins, Matthew, Newell, Kathy L., Gasser, Thomas, Schulte, Claudia, Landi, Francesco, Salvi, Erika, Cusi, Daniele, Masliah, Eliezer, Kim, Ronald C., Caraway, Chad A., Monuki, Edwin S., Brunetti, Maura, Dawson, Ted M., Rosenthal, Liana S., Albert, Marilyn S., Pletnikova, Olga, Troncoso, Juan C., Flanagan, Margaret E., Mao, Qinwen, Bigio, Eileen H., Rodríguez-Rodríguez, Eloy, Infante, Jon, Lage, Carmen, González-Aramburu, Isabel, Sanchez-Juan, Pascual, Ghetti, Bernardino, Keith, Julia, Black, Sandra E., Masellis, Mario, Rogaeva, Ekaterina, Duyckaerts, Charles, Brice, Alexis, Lesage, Suzanne, Xiromerisiou, Georgia, Barrett, Matthew J., Tilley, Bension S., Gentleman, Steve, Logroscino, Giancarlo, Serrano, Geidy E., Beach, Thomas G., McKeith, Ian G., Thomas, Alan J., Attems, Johannes, Morris, Christopher M., Palmer, Laura, Love, Seth, Troakes, Claire, Al-Sarraj, Safa, Hodges, Angela K., Aarsland, Dag, Klein, Gregory, Kaiser, Scott M., Woltjer, Randy, Pastor, Pau, Bekris, Lynn M., Leverenz, James B., Besser, Lilah M., Kuzma, Amanda, Renton, Alan E., Goate, Alison, Bennett, David A., Scherzer, Clemens R., Morris, Huw R., Ferrari, Raffaele, Albani, Diego, Pickering-Brown, Stuart, Faber, Kelley, Kukull, Walter A., Morenas-Rodriguez, Estrella, Lleó, Alberto, Fortea, Juan, Alcolea, Daniel, Clarimon, Jordi, Nalls, Mike A., Ferrucci, Luigi, Resnick, Susan M., Tanaka, Toshiko, Foroud, Tatiana M., Graff-Radford, Neill R., Wszolek, Zbigniew K., Ferman, Tanis, Boeve, Bradley F., Hardy, John A., Topol, Eric J., Torkamani, Ali, Singleton, Andrew B., Ryten, Mina, Dickson, Dennis W., Chiò, Adriano, Ross, Owen A., Gibbs, J. Raphael, Dalgard, Clifton L., Traynor, Bryan J., and Scholz, Sonja W.
- Published
- 2021
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63. Frequency of spinocerebellar ataxia mutations in patients with multiple system atrophy
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Wernick, Anna I., Walton, Ronald L., Soto-Beasley, Alexandra I., Koga, Shunsuke, Heckman, Michael G., Valentino, Rebecca R., Milanowski, Lukasz M., Hoffman-Zacharska, Dorota, Koziorowski, Dariusz, Hassan, Anhar, Uitti, Ryan J., Cheshire, William P., Singer, Wolfgang, Wszolek, Zbigniew K., Dickson, Dennis W., Low, Phillip A., and Ross, Owen A.
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- 2021
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64. Assessment of Skin Biopsy as a Diagnostic Biomarker in CSF1R-Related Disorder.
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Dulski, Jaroslaw, Jiang, Peizhou, Wen-Lang Lin, Dickson, Dennis W., and Wszolek, Zbigniew K.
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- 2024
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65. Basal activity of PINK1 and PRKN in cell models and rodent brain.
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Watzlawik, Jens O., Fiesel, Fabienne C., Fiorino, Gabriella, Bustillos, Bernardo A., Baninameh, Zahra, Markham, Briana N., Hou, Xu, Hayes, Caleb S., Bredenberg, Jenny M., Kurchaba, Nicholas W., Fričová, Dominika, Siuda, Joanna, Wszolek, Zbigniew K., Noda, Sachiko, Sato, Shigeto, Hattori, Nobutaka, Prasad, Asheeta A., Kirik, Deniz, Fox, Howard S., and Stauch, Kelly L.
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PARKINSON'S disease ,CELL culture ,RODENTS ,FUNCTIONAL magnetic resonance imaging ,UBIQUITIN ,CLINICAL trials - Abstract
The ubiquitin kinase-ligase pair PINK1-PRKN recognizes and transiently labels damaged mitochondria with ubiquitin phosphorylated at Ser65 (p-S65-Ub) to mediate their selective degradation (mitophagy). Complete loss of PINK1 or PRKN function unequivocally leads to early-onset Parkinson disease, but it is debated whether impairments in mitophagy contribute to disease later in life. While the pathway has been extensively studied in cell culture upon acute and massive mitochondrial stress, basal levels of activation under endogenous conditions and especially in vivo in the brain remain undetermined. Using rodent samples, patient-derived cells, and isogenic neurons, we here identified age-dependent, brain region-, and cell type-specific effects and determined expression levels and extent of basal and maximal activation of PINK1 and PRKN. Our work highlights the importance of defining critical risk and therapeutically relevant levels of PINK1-PRKN signaling which will further improve diagnosis and prognosis and will lead to better stratification of patients for future clinical trials. [ABSTRACT FROM AUTHOR]
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- 2024
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66. Screening non-MAPT genes of the Chr17q21 H1 haplotype in Parkinson's disease
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Soto-Beasley, Alexandra I., Walton, Ronald L., Valentino, Rebecca R., Hook, Paul W., Labbé, Catherine, Heckman, Michael G., Johnson, Patrick W., Goff, Loyal A., Uitti, Ryan J., McLean, Pamela J., Springer, Wolfdieter, McCallion, Andrew S., Wszolek, Zbigniew K., and Ross, Owen A.
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- 2020
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67. GBA variation and susceptibility to multiple system atrophy
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Wernick, Anna I., Walton, Ronald L., Koga, Shunsuke, Soto-Beasley, Alexandra I., Heckman, Michael G., Gan-Or, Ziv, Ren, Yingxue, Rademakers, Rosa, Uitti, Ryan J., Wszolek, Zbigniew K., Cheshire, William P., Dickson, Dennis W., and Ross, Owen A.
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- 2020
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68. Cognitive and behavioral profile of Perry syndrome in two families
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Milanowski, Łukasz, Sitek, Emilia J., Dulski, Jarosław, Cerquera-Cleves, Catalina, Gomez, Juan D., Brockhuis, Bogna, Schinwelski, Michał, Kluj-Kozłowska, Klaudia, Ross, Owen A., Sławek, Jarosław, and Wszolek, Zbigniew K.
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- 2020
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69. Age at symptom onset and death and disease duration in genetic frontotemporal dementia: an international retrospective cohort study
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Heller, Carolin, Convery, Rhian S, Woollacott, Ione OC, Shafei, Rachelle M, Graff-Radford, Jonathan, Jones, David T, Dheel, Christina M, Savica, Rodolfo, Lapid, Maria I, Baker, Matt, Fields, Julie A, Gavrilova, Ralitza, Domoto-Reilly, Kimiko, Poos, Jackie M, Van der Ende, Emma L, Panman, Jessica L, Donker Kaat, Laura, Seelaar, Harro, Richardson, Anna, Frisoni, Giovanni, Mega, Anna, Fostinelli, Silvia, Chiang, Huei-Hsin, Alberici, Antonella, Arighi, Andrea, Fenoglio, Chiara, Heuer, Hilary, Miller, Bruce, Karydas, Anna, Fong, Jamie, João Leitão, Maria, Santiago, Beatriz, Duro, Diana, Ferreira, Carlos, Gabilondo, Alazne, De Arriba, Maria, Tainta, Mikel, Zulaica, Miren, Ferreira, Catarina, Semler, Elisa, Ludolph, Albert, Landwehrmeyer, Bernhard, Volk, Alexander E, Miltenberger, Gabriel, Verdelho, Ana, Afonso, Sónia, Tartaglia, Maria Carmela, Freedman, Morris, Rogaeva, Ekaterina, Ferrari, Camilla, Piaceri, Irene, Bessi, Valentina, Lombardi, Gemma, St-Onge, Frédéric, Doré, Marie-Claire, Bruffaerts, Rose, Vandenbulcke, Mathieu, Van den Stock, Jan, Mesulam, M Marsel, Bigio, Eileen, Koros, Christos, Papatriantafyllou, John, Kroupis, Christos, Stefanis, Leonidas, Shoesmith, Christien, Robertson, Erik, Coppola, Giovanni, Da Silva Ramos, Eliana Marisa, Geschwind, Daniel, Moore, Katrina M, Nicholas, Jennifer, Grossman, Murray, McMillan, Corey T, Irwin, David J, Massimo, Lauren, Van Deerlin, Vivianna M, Warren, Jason D, Fox, Nick C, Rossor, Martin N, Mead, Simon, Bocchetta, Martina, Boeve, Bradley F, Knopman, David S, Graff-Radford, Neill R, Forsberg, Leah K, Rademakers, Rosa, Wszolek, Zbigniew K, van Swieten, John C, Jiskoot, Lize C, Meeter, Lieke H, Dopper, Elise GP, Papma, Janne M, Snowden, Julie S, Saxon, Jennifer, Jones, Matthew, Pickering-Brown, Stuart, Le Ber, Isabelle, Camuzat, Agnès, Brice, Alexis, Caroppo, Paola, Ghidoni, Roberta, Pievani, Michela, Benussi, Luisa, Binetti, Giuliano, Dickerson, Bradford C, Lucente, Diane, Krivensky, Samantha, Graff, Caroline, Öijerstedt, Linn, Fallström, Marie, Thonberg, Håkan, Ghoshal, Nupur, Morris, John C, Borroni, Barbara, Benussi, Alberto, Padovani, Alessandro, Galimberti, Daniela, Scarpini, Elio, Fumagalli, Giorgio G, Mackenzie, Ian R, Hsiung, Ging-Yuek R, Sengdy, Pheth, Boxer, Adam L, Rosen, Howie, Taylor, Joanne B, Synofzik, Matthis, Wilke, Carlo, Sulzer, Patricia, Hodges, John R, Halliday, Glenda, Kwok, John, Sanchez-Valle, Raquel, Lladó, Albert, Borrego-Ecija, Sergi, Santana, Isabel, Almeida, Maria Rosário, Tábuas-Pereira, Miguel, Moreno, Fermin, Barandiaran, Myriam, Indakoetxea, Begoña, Levin, Johannes, Danek, Adrian, Rowe, James B, Cope, Thomas E, Otto, Markus, Anderl-Straub, Sarah, de Mendonça, Alexandre, Maruta, Carolina, Masellis, Mario, Black, Sandra E, Couratier, Philippe, Lautrette, Geraldine, Huey, Edward D, Sorbi, Sandro, Nacmias, Benedetta, Laforce, Robert, Jr, Tremblay, Marie-Pier L, Vandenberghe, Rik, Damme, Philip Van, Rogalski, Emily J, Weintraub, Sandra, Gerhard, Alexander, Onyike, Chiadi U, Ducharme, Simon, Papageorgiou, Sokratis G, Ng, Adeline Su Lyn, Brodtmann, Amy, Finger, Elizabeth, Guerreiro, Rita, Bras, Jose, and Rohrer, Jonathan D
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- 2020
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70. Frequency of Comorbid Pathologies and Their Clinical Impact in Multiple System Atrophy
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Sekiya, Hiroaki, primary, Koga, Shunsuke, additional, Murakami, Aya, additional, DeTure, Michael, additional, Ross, Owen A., additional, Uitti, Ryan J., additional, Cheshire, William P., additional, Wszolek, Zbigniew K., additional, and Dickson, Dennis W., additional
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- 2023
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71. Clinical Characteristics and Outcomes in Young‐Onset Multiple System Atrophy
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Badihian, Negin, primary, Savica, Rodolfo, additional, Adler, Charles H., additional, Wszolek, Zbigniew K., additional, Jackson, Lauren M., additional, Benarroch, Eduardo E., additional, Sandroni, Paola, additional, Low, Phillip A., additional, Singer, Wolfgang, additional, and Coon, Elizabeth A., additional
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- 2023
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72. Genetics of Parkinson's disease heterogeneity: A genome-wide association study of clinical subtypes
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Dulski, Jarosław, primary, Uitti, Ryan J., additional, Beasley, Alexandra, additional, Hernandez, Dena, additional, Ramanan, Vijay K., additional, Cahn, Elliot J., additional, Ren, Yingxue, additional, Johnson, Patrick W., additional, Quicksall, Zachary S., additional, Wszolek, Zbigniew K., additional, Ross, Owen A., additional, and Heckman, Michael G., additional
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- 2023
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73. Validation Study of the MDS Criteria for the Diagnosis of Multiple System Atrophy in the Mayo Clinic Brain Bank
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Sekiya, Hiroaki, primary, Koga, Shunsuke, additional, Murakami, Aya, additional, Kawazoe, Miki, additional, Kim, Minji, additional, Martin, Nicholas B, additional, Uitti, Ryan J, additional, Cheshire, William P, additional, Wszolek, Zbigniew K, additional, and Dickson, Dennis W, additional
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- 2023
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74. CSF1R-related disorder: State of the art, challenges, and proposition of a new terminology
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Dulski, Jarosław, primary, Muthusamy, Karthik, additional, Lund, Troy C., additional, and Wszolek, Zbigniew K., additional
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- 2023
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75. Crohn’s and Parkinson’s Disease-Associated LRRK2 Mutations Alter Type II Interferon Responses in Human CD14+ Blood Monocytes Ex Vivo
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Ikezu, Tsuneya, Koro, Lacin, Wolozin, Benjamin, Farraye, Francis A., Strongosky, Audrey J., and Wszolek, Zbigniew K.
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- 2020
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76. Author Correction: APOE4 exacerbates synapse loss and neurodegeneration in Alzheimer’s disease patient iPSC-derived cerebral organoids
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Zhao, Jing, Fu, Yuan, Yamazaki, Yu, Ren, Yingxue, Davis, Mary D., Liu, Chia-Chen, Lu, Wenyan, Wang, Xue, Chen, Kai, Cherukuri, Yesesri, Jia, Lin, Martens, Yuka A., Job, Lucy, Shue, Francis, Nguyen, Thanh Thanh, Younkin, Steven G., Graff-Radford, Neill R., Wszolek, Zbigniew K., Brafman, David A., Asmann, Yan W., Ertekin-Taner, Nilüfer, Kanekiyo, Takahisa, and Bu, Guojun
- Published
- 2021
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77. A proteomic signature for dementia with Lewy bodies
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O'Bryant, Sid E., Ferman, Tanis J., Zhang, Fan, Hall, James, Pedraza, Otto, Wszolek, Zbigniew K., Como, Tori, Julovich, David, Mattevada, Sravan, Johnson, Leigh A., Edwards, Melissa, and Graff-Radford, Neill R.
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- 2019
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78. Genome-wide association study of corticobasal degeneration identifies risk variants shared with progressive supranuclear palsy.
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Kouri, Naomi, Ross, Owen A, Dombroski, Beth, Younkin, Curtis S, Serie, Daniel J, Soto-Ortolaza, Alexandra, Baker, Matthew, Finch, Ni Cole A, Yoon, Hyejin, Kim, Jungsu, Fujioka, Shinsuke, McLean, Catriona A, Ghetti, Bernardino, Spina, Salvatore, Cantwell, Laura B, Farlow, Martin R, Grafman, Jordan, Huey, Edward D, Ryung Han, Mi, Beecher, Sherry, Geller, Evan T, Kretzschmar, Hans A, Roeber, Sigrun, Gearing, Marla, Juncos, Jorge L, Vonsattel, Jean Paul G, Van Deerlin, Vivianna M, Grossman, Murray, Hurtig, Howard I, Gross, Rachel G, Arnold, Steven E, Trojanowski, John Q, Lee, Virginia M, Wenning, Gregor K, White, Charles L, Höglinger, Günter U, Müller, Ulrich, Devlin, Bernie, Golbe, Lawrence I, Crook, Julia, Parisi, Joseph E, Boeve, Bradley F, Josephs, Keith A, Wszolek, Zbigniew K, Uitti, Ryan J, Graff-Radford, Neill R, Litvan, Irene, Younkin, Steven G, Wang, Li-San, Ertekin-Taner, Nilüfer, Rademakers, Rosa, Hakonarsen, Hakon, Schellenberg, Gerard D, and Dickson, Dennis W
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Cerebral Cortex ,Humans ,Basal Ganglia Diseases ,Supranuclear Palsy ,Progressive ,Neurodegenerative Diseases ,Kinesin ,SOS1 Protein ,tau Proteins ,Myelin Proteins ,Case-Control Studies ,Polymorphism ,Single Nucleotide ,Adult ,Aged ,Aged ,80 and over ,Middle Aged ,Female ,Male ,Genome-Wide Association Study ,Young Adult ,RNA ,Long Noncoding ,and over ,Polymorphism ,Single Nucleotide ,RNA ,Long Noncoding ,Supranuclear Palsy ,Progressive - Abstract
Corticobasal degeneration (CBD) is a neurodegenerative disorder affecting movement and cognition, definitively diagnosed only at autopsy. Here, we conduct a genome-wide association study (GWAS) in CBD cases (n=152) and 3,311 controls, and 67 CBD cases and 439 controls in a replication stage. Associations with meta-analysis were 17q21 at MAPT (P=1.42 × 10(-12)), 8p12 at lnc-KIF13B-1, a long non-coding RNA (rs643472; P=3.41 × 10(-8)), and 2p22 at SOS1 (rs963731; P=1.76 × 10(-7)). Testing for association of CBD with top progressive supranuclear palsy (PSP) GWAS single-nucleotide polymorphisms (SNPs) identified associations at MOBP (3p22; rs1768208; P=2.07 × 10(-7)) and MAPT H1c (17q21; rs242557; P=7.91 × 10(-6)). We previously reported SNP/transcript level associations with rs8070723/MAPT, rs242557/MAPT, and rs1768208/MOBP and herein identified association with rs963731/SOS1. We identify new CBD susceptibility loci and show that CBD and PSP share a genetic risk factor other than MAPT at 3p22 MOBP (myelin-associated oligodendrocyte basic protein).
- Published
- 2015
79. Cognitive profile of LRRK2-related Parkinson's disease.
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Srivatsal, Sindhu, Cholerton, Brenna, Leverenz, James B, Wszolek, Zbigniew K, Uitti, Ryan J, Dickson, Dennis W, Weintraub, Daniel, Trojanowski, John Q, Van Deerlin, Vivianna M, Quinn, Joseph F, Chung, Kathryn A, Peterson, Amie L, Factor, Stewart A, Wood-Siverio, Cathy, Goldman, Jennifer G, Stebbins, Glenn T, Bernard, Bryan, Ritz, Beate, Rausch, Rebecca, Espay, Alberto J, Revilla, Fredy J, Devoto, Johnna, Rosenthal, Liana S, Dawson, Ted M, Albert, Marilyn S, Mata, Ignacio F, Hu, Shu-Ching, Montine, Kathleen S, Johnson, Catherine, Montine, Thomas J, Edwards, Karen L, Zhang, Jing, and Zabetian, Cyrus P
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Humans ,Parkinson Disease ,Cohort Studies ,Cross-Sectional Studies ,Cognition Disorders ,Mental Status Schedule ,Neuropsychological Tests ,Mutation ,Adult ,Aged ,Aged ,80 and over ,Middle Aged ,Female ,Male ,Leucine-Rich Repeat Serine-Threonine Protein Kinase-2 ,Protein Serine-Threonine Kinases ,LRRK2 ,Parkinson's disease ,cognition ,neuropsychological tests ,working memory ,Genetic Testing ,Genetics ,Acquired Cognitive Impairment ,Neurosciences ,Dementia ,Parkinson's Disease ,Brain Disorders ,Aging ,Neurodegenerative ,2.1 Biological and endogenous factors ,Aetiology ,Neurological ,Good Health and Well Being ,Clinical Sciences ,Human Movement and Sports Sciences ,Neurology & Neurosurgery - Abstract
BackgroundIncreasing evidence suggests that genetic factors play a role in the variability associated with cognitive performance in Parkinson's disease (PD). Mutations in the LRRK2 gene are the most common cause of monogenic PD; however, the cognitive profile of LRRK2-related PD is not well-characterized.MethodsA cohort of 1,447 PD patients enrolled in the PD Cognitive Genetics Consortium was screened for LRRK2 mutations and completed detailed cognitive testing. Associations between mutation carrier status and cognitive test scores were assessed using linear regression models.ResultsLRRK2 mutation carriers (n = 29) demonstrated better performance on the Mini Mental State Examination (P = 0.03) and the Letter-Number Sequencing Test (P = 0.005). A smaller proportion of LRRK2 carriers were demented (P = 0.03).ConclusionsOur cross-sectional study demonstrates better performance on certain cognitive tests, as well as lower rates of dementia in LRRK2-related PD. Future longitudinal studies are needed to determine whether LRRK2 mutation carriers exhibit slower cognitive decline. © 2015 International Parkinson and Movement Disorder Society.
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- 2015
80. PARK10 is a major locus for sporadic neuropathologically confirmed Parkinson disease
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Beecham, Gary W, Dickson, Dennis W, Scott, William K, Martin, Eden R, Schellenberg, Gerard, Nuytemans, Karen, Larson, Eric B, Buxbaum, Joseph D, Trojanowski, John Q, Van Deerlin, Vivianna M, Hurtig, Howard I, Mash, Deborah C, Beach, Thomas G, Troncoso, Juan C, Pletnikova, Olga, Frosch, Matthew P, Ghetti, Bernardino, Foroud, Tatiana M, Honig, Lawrence S, Marder, Karen, Vonsattel, Jean Paul, Goldman, Samuel M, Vinters, Harry V, Ross, Owen A, Wszolek, Zbigniew K, Wang, Liyong, Dykxhoorn, Derek M, Pericak-Vance, Margaret A, Montine, Thomas J, Leverenz, James B, Dawson, Ted M, and Vance, Jeffery M
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Biomedical and Clinical Sciences ,Neurosciences ,Clinical Sciences ,Genetics ,Brain Disorders ,Aging ,Neurodegenerative ,Prevention ,Human Genome ,Parkinson's Disease ,Aetiology ,2.1 Biological and endogenous factors ,Neurological ,Aged ,Aged ,80 and over ,Chromosomes ,Human ,Pair 1 ,Female ,Genetic Loci ,Genome-Wide Association Study ,Humans ,Linkage Disequilibrium ,Male ,Parkinson Disease ,Polymorphism ,Single Nucleotide ,Cognitive Sciences ,Neurology & Neurosurgery ,Clinical sciences - Abstract
ObjectiveTo minimize pathologic heterogeneity in genetic studies of Parkinson disease (PD), the Autopsy-Confirmed Parkinson Disease Genetics Consortium conducted a genome-wide association study using both patients with neuropathologically confirmed PD and controls.MethodsFour hundred eighty-four cases and 1,145 controls met neuropathologic diagnostic criteria, were genotyped, and then imputed to 3,922,209 variants for genome-wide association study analysis.ResultsA small region on chromosome 1 was strongly associated with PD (rs10788972; p = 6.2 × 10(-8)). The association peak lies within and very close to the maximum linkage peaks of 2 prior positive linkage studies defining the PARK10 locus. We demonstrate that rs10788972 is in strong linkage disequilibrium with rs914722, the single nucleotide polymorphism defining the PARK10 haplotype previously shown to be significantly associated with age at onset in PD. The region containing the PARK10 locus was significantly reduced from 10.6 megabases to 100 kilobases and contains 4 known genes: TCEANC2, TMEM59, miR-4781, and LDLRAD1.ConclusionsWe confirm the association of a PARK10 haplotype with the risk of developing idiopathic PD. Furthermore, we significantly reduce the size of the PARK10 region. None of the candidate genes in the new PARK10 region have been previously implicated in the biology of PD, suggesting new areas of potential research. This study strongly suggests that reducing pathologic heterogeneity may enhance the application of genetic association studies to PD.
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- 2015
81. Ataxin-2 as potential disease modifier in C9ORF72 expansion carriers
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van Blitterswijk, Marka, Mullen, Bianca, Heckman, Michael G, Baker, Matthew C, DeJesus-Hernandez, Mariely, Brown, Patricia H, Murray, Melissa E, Hsiung, Ging-Yuek R, Stewart, Heather, Karydas, Anna M, Finger, Elizabeth, Kertesz, Andrew, Bigio, Eileen H, Weintraub, Sandra, Mesulam, Marsel, Hatanpaa, Kimmo J, White, Charles L, Neumann, Manuela, Strong, Michael J, Beach, Thomas G, Wszolek, Zbigniew K, Lippa, Carol, Caselli, Richard, Petrucelli, Leonard, Josephs, Keith A, Parisi, Joseph E, Knopman, David S, Petersen, Ronald C, Mackenzie, Ian R, Seeley, William W, Grinberg, Lea T, Miller, Bruce L, Boylan, Kevin B, Graff-Radford, Neill R, Boeve, Bradley F, Dickson, Dennis W, and Rademakers, Rosa
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Biomedical and Clinical Sciences ,Neurosciences ,Genetics ,ALS ,Neurodegenerative ,Acquired Cognitive Impairment ,Clinical Research ,Dementia ,Frontotemporal Dementia (FTD) ,Rare Diseases ,Aging ,Brain Disorders ,Neurological ,Adult ,Ataxins ,C9orf72 Protein ,Cohort Studies ,DNA Repeat Expansion ,Frontotemporal Dementia ,Genetic Association Studies ,Heterozygote ,Humans ,Male ,Membrane Proteins ,Middle Aged ,Motor Neuron Disease ,Nerve Tissue Proteins ,Proteins ,Survival of Motor Neuron 1 Protein ,Survival of Motor Neuron 2 Protein ,C9ORF72 ,Ataxin-2 ,ATXN2 ,Motor neuron disease ,Amyotrophic lateral sclerosis ,Frontotemporal dementia ,Disease modifier ,Clinical Sciences ,Neurology & Neurosurgery ,Biological psychology - Abstract
Repeat expansions in chromosome 9 open reading frame 72 (C9ORF72) are an important cause of both motor neuron disease (MND) and frontotemporal dementia (FTD). Currently, little is known about factors that could account for the phenotypic heterogeneity detected in C9ORF72 expansion carriers. In this study, we investigated 4 genes that could represent genetic modifiers: ataxin-2 (ATXN2), non-imprinted in Prader-Willi/Angelman syndrome 1 (NIPA1), survival motor neuron 1 (SMN1), and survival motor neuron 2 (SMN2). Assessment of these genes, in a unique cohort of 331 C9ORF72 expansion carriers and 376 control subjects, revealed that intermediate repeat lengths in ATXN2 possibly act as disease modifier in C9ORF72 expansion carriers; no evidence was provided for a potential role of NIPA1, SMN1, or SMN2. The effects of intermediate ATXN2 repeats were most profound in probands with MND or FTD/MND (2.1% vs. 0% in control subjects, p = 0.013), whereas the frequency in probands with FTD was identical to control subjects. Though intermediate ATXN2 repeats were already known to be associated with MND risk, previous reports did not focus on individuals with clear pathogenic mutations, such as repeat expansions in C9ORF72. Based on our present findings, we postulate that intermediate ATXN2 repeat lengths may render C9ORF72 expansion carriers more susceptible to the development of MND; further studies are needed, however, to validate our findings.
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- 2014
82. Rates of lobar atrophy in asymptomatic MAPT mutation carriers
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Coppola, Giovanni, Dickerson, Bradford C., Dickinson, Susan, Faber, Kelly, Fong, Jamie, Foroud, Tatiana, Ghoshal, Nupur, MurrayGrossman, Jill Goldman, Heuer, HilaryW., Hsiao, John, Hsiung, Ging-Yuek R., Huey, Edward, Irwin, David J., Karydas, Anna M., Kornak, John, Kramer, Joel, Kukull, Walter A., Lucente, Diane, Lungu, Codrin, Mackenzie, Ian R.A., McGinnis, Scott, Miller, Bruce L., Petrucelli, Leonard, Potter, Madeline, Ramos, Eliana M., Rankin, Katherine P., Rascovsky, Katya, Shaw, Leslie, Sutherland, Marg, Tatton, Nadine, Taylor, Joanne, Toga, Arthur W., Trojanowski, John, Weintraub, Sandra, Wong, Bonnie, Chen, Qin, Boeve, Bradley F., Senjem, Matthew, Tosakulwong, Nirubol, Lesnick, Timothy G., Brushaber, Danielle, Dheel, Christina, Fields, Julie, Forsberg, Leah, Gavrilova, Ralitza, Gearhart, Debra, Graff-Radford, Jonathan, Graff-Radford, Neill R., Jack, Clifford R., Jr., Jones, David T., Knopman, David S., Kremers, Walter K., Lapid, Maria, Rademakers, Rosa, Syrjanen, Jeremy, Boxer, Adam L., Rosen, Howie, Wszolek, Zbigniew K., and Kantarci, Kejal
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- 2019
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83. TMEM106B protects C9ORF72 expansion carriers against frontotemporal dementia
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van Blitterswijk, Marka, Mullen, Bianca, Nicholson, Alexandra M, Bieniek, Kevin F, Heckman, Michael G, Baker, Matthew C, DeJesus-Hernandez, Mariely, Finch, NiCole A, Brown, Patricia H, Murray, Melissa E, Hsiung, Ging-Yuek R, Stewart, Heather, Karydas, Anna M, Finger, Elizabeth, Kertesz, Andrew, Bigio, Eileen H, Weintraub, Sandra, Mesulam, Marsel, Hatanpaa, Kimmo J, White III, Charles L, Strong, Michael J, Beach, Thomas G, Wszolek, Zbigniew K, Lippa, Carol, Caselli, Richard, Petrucelli, Leonard, Josephs, Keith A, Parisi, Joseph E, Knopman, David S, Petersen, Ronald C, Mackenzie, Ian R, Seeley, William W, Grinberg, Lea T, Miller, Bruce L, Boylan, Kevin B, Graff-Radford, Neill R, Boeve, Bradley F, Dickson, Dennis W, and Rademakers, Rosa
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Biomedical and Clinical Sciences ,Neurosciences ,Dementia ,Frontotemporal Dementia (FTD) ,Neurodegenerative ,Alzheimer's Disease Related Dementias (ADRD) ,Genetics ,Alzheimer's Disease including Alzheimer's Disease Related Dementias (AD/ADRD) ,ALS ,Human Genome ,Clinical Research ,Rare Diseases ,Acquired Cognitive Impairment ,Brain Disorders ,2.1 Biological and endogenous factors ,Aetiology ,Neurological ,Adult ,Age of Onset ,Aged ,Aged ,80 and over ,Alleles ,C9orf72 Protein ,Cohort Studies ,DNA Repeat Expansion ,DNA-Binding Proteins ,Female ,Frontotemporal Dementia ,Genetic Predisposition to Disease ,Genotype ,Heterozygote ,Humans ,Male ,Membrane Proteins ,Middle Aged ,Models ,Genetic ,Motor Neuron Disease ,Nerve Tissue Proteins ,Polymorphism ,Single Nucleotide ,Proteins ,C9ORF72 ,TMEM106B ,Frontotemporal dementia ,Motor neuron disease ,Amyotrophic lateral sclerosis ,Disease modifier ,Clinical Sciences ,Neurology & Neurosurgery - Abstract
Variants in transmembrane protein 106 B (TMEM106B) modify the disease penetrance of frontotemporal dementia (FTD) in carriers of progranulin (GRN) mutations. We investigated whether TMEM106B is also a genetic modifier of disease in carriers of chromosome 9 open reading frame 72 (C9ORF72) expansions. We assessed the genotype of 325 C9ORF72 expansion carriers (cohort 1), 586 FTD patients lacking C9ORF72 expansions [with or without motor neuron disease (MND); cohort 2], and a total of 1,302 controls for TMEM106B variants (rs3173615 and rs1990622) using MassArray iPLEX and Taqman genotyping assays. For our primary analysis, we focused on functional variant rs3173615, and employed a recessive genotypic model. In cohort 1, patients with C9ORF72 expansions showed a significantly reduced frequency of carriers homozygous for the minor allele as compared to controls [11.9 vs. 19.1 %, odds ratio (OR) 0.57, p = 0.014; same direction as carriers of GRN mutations]. The strongest evidence was provided by FTD patients (OR 0.33, p = 0.009) followed by FTD/MND patients (OR 0.38, p = 0.017), whereas no significant difference was observed in MND patients (OR 0.85, p = 0.55). In cohort 2, the frequency of carriers homozygous for the minor allele was not significantly reduced in patients as compared to controls (OR 0.77, p = 0.079); however, a significant reduction was observed when focusing on those patients with frontotemporal lobar degeneration and TAR DNA-binding protein 43 inclusions (FTLD-TDP; OR 0.26, p < 0.001). Our study identifies TMEM106B as the first genetic factor modifying disease presentation in C9ORF72 expansion carriers. Homozygosity for the minor allele protects carriers from developing FTD, but not from developing MND; similar effects are seen in FTLD-TDP patients with yet unknown genetic causes. These new findings show that the protective effects of TMEM106B are not confined to carriers of GRN mutations and might be relevant for prognostic testing, and as a promising therapeutic target for the entire spectrum of FTLD-TDP.
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- 2014
84. Clinical presentation and diagnosis of adult-onset leukoencephalopathy with axonal spheroids and pigmented glia: a literature analysis of case studies.
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Papapetropoulos, Spyros, Gelfand, Jeffrey M., Konno, Takuya, Ikeuchi, Takeshi, Pontius, Angela, Meier, Andreas, Foroutan, Farid, and Wszolek, Zbigniew K.
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SYMPTOMS ,LEUKOENCEPHALOPATHIES ,MACROPHAGE colony-stimulating factor ,FRONTOTEMPORAL dementia ,BRAIN abnormalities ,DIAGNOSIS - Abstract
Introduction: Because adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP) is a rare, rapidly progressive, debilitating, and ultimately fatal neurodegenerative disease, a rapid and accurate diagnosis is critical. This analysis examined the frequency of initial misdiagnosis of ALSP via comprehensive review of peer-reviewed published cases. Methods: Data were extracted from a MEDLINE search via PubMed (January 1, 1980, through March 22, 2022) from eligible published case reports/series for patients with an ALSP diagnosis that had been confirmed by testing for the colony-stimulating factor-1 receptor gene (CSF1R) mutation. Patient demographics, clinical symptoms, brain imaging, and initial diagnosis data were summarized descriptively. Categorical data for patient demographics, symptoms, and brain imaging were stratified by initial diagnosis category to test for differences in initial diagnosis based on each variable. Results: Data were extracted from a cohort of 291 patients with ALSP from 93 published case reports and case series. Mean (standard deviation) age of symptom onset was 43.2 (11.6) years. A family history of ALSP was observed in 59.1% of patients. Cognitive impairment (47.1%) and behavioral and psychiatric abnormalities (26.8%) were the most frequently reported initial symptoms. Of 291 total cases, an accurate initial diagnosis of ALSP was made in 72 cases (24.7%) and the most frequent initial misdiagnosis categories were frontotemporal dementia (28 [9.6%]) and multiple sclerosis (21 [7.2%]). Of the 219 cases (75.3%) that were initially mis- or undiagnosed, 206 cases (94.1%) were later confirmed as ALSP by immunohistology, imaging, and/or genetic testing; for the remaining 13 cases, no final diagnosis was reported. Initial diagnosis category varied based on age, family history, geographic region, mode of inheritance, and presenting symptoms of pyramidal or extrapyramidal motor dysfunction, behavioral and psychiatric abnormalities, cognitive impairment, and speech difficulty. Brain imaging abnormalities were common, and initial diagnosis category was significantly associated with white matter hyperintensities, white matter calcifications, and ventricular enlargement. Discussion: In this literature analysis, ALSP was frequently misdiagnosed. Improving awareness of this condition and distinguishing it from other conditions with overlapping presenting symptoms is important for timely management of a rapidly progressive disease such as ALSP. [ABSTRACT FROM AUTHOR]
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- 2024
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85. Clinical Characteristics and Outcomes in Young‐Onset Multiple System Atrophy.
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Badihian, Negin, Savica, Rodolfo, Adler, Charles H., Wszolek, Zbigniew K., Jackson, Lauren M., Benarroch, Eduardo E., Sandroni, Paola, Low, Phillip A., Singer, Wolfgang, and Coon, Elizabeth A.
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MULTIPLE system atrophy ,DELAYED diagnosis ,SURVIVAL rate ,AGE of onset ,MEDICAL records - Abstract
Background: Young‐onset multiple system atrophy (YOMSA) is defined as the onset of multiple system atrophy (MSA) before the age of 40 years old. YOMSA is rare and there is much uncertainty of the phenotype and natural history in patients with YOMSA. Objective: The objective is to evaluate the characteristics and disease course of patients with YOMSA. Methods: We retrospectively reviewed medical records of patients with MSA who were evaluated at all Mayo Clinic sites from 1998 to 2021. We identified patients with YOMSA and evaluated clinical characteristics, autonomic function testing results, and disease course. Results: Of 1496 patients with a diagnosis of clinically probable or clinically established MSA, 20 patients had YOMSA. The median age of onset was 39.1 (interquartile range [IQR] = 37.1, 40.1) years; 13 patients (65%) were male. MSA‐parkinsonism was the most common subtype (65%). The median duration of symptom onset to YOMSA diagnosis was 4.9 (IQR = 3.7, 9) years. At the time of medical record review, 17 patients were deceased with a median survival of 8.3 (IQR = 7, 10.9) years. Univariate analysis showed that initial onset of autonomic failure predicted unfavorable survival (hazard ratio = 2.89, P = 0.04) compared to those who presented with motor impairment only at onset. At the time of YOMSA diagnosis, composite autonomic severity score was available in 19 patients with a median of 5 (IQR = 4, 6.5). Conclusions: YOMSA resembles MSA in most aspects including phenotype and prognosis, although the diagnosis is usually delayed. The presence of autonomic failure at symptom onset may be a poor predictor for survival. [ABSTRACT FROM AUTHOR]
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- 2024
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86. Frequency of Comorbid Pathologies and Their Clinical Impact in Multiple System Atrophy.
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Sekiya, Hiroaki, Koga, Shunsuke, Murakami, Aya, DeTure, Michael, Ross, Owen A., Uitti, Ryan J., Cheshire, William P., Wszolek, Zbigniew K., and Dickson, Dennis W.
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Background: Mixed pathology is common at autopsy for a number of age‐associated neurodegenerative disorders; however, the frequency of comorbid pathologies in multiple system atrophy (MSA) and their clinical correlations are poorly understood. Objective: We determined the frequency of comorbid pathologic processes in autopsy‐confirmed MSA and assessed their clinical correlates. Methods: This study included 160 neuropathologically established MSA from the Mayo Clinic brain bank. Clinical information, including age at onset or death, clinical subtype, initial symptoms, antemortem clinical diagnosis, and cognitive dysfunction was collected. We assessed comorbid pathologies including Alzheimer's disease neuropathologic change, Lewy‐related pathology, argyrophilic grain disease, age‐related τ astrogliopathy, transactive DNA‐binding protein 43 pathology, cerebral amyloid angiopathy, and cerebrovascular small vessel disease and examined their clinical impact. Results: The majority of MSA patients (62%) had no significant comorbid pathologies. There was a positive correlation between age at onset or death with the number of comorbid pathologies; however, even in the highest quartile group (average age at death 78 ± 6 years), the average number of comorbid pathologies was <2. Logistic regression analysis revealed that none of the assessed variables, including sex, age at onset, and the presence or absence of each comorbid pathology, were significantly associated with cognitive dysfunction. Conclusions: The majority of MSA patients do not have comorbid pathologies, even in advanced age, indicating that MSA is unique among neurodegenerative disorders in this regard. There was minimal clinical impact of comorbid pathologies in MSA. These findings warrant focusing on α‐synuclein for the treatment strategy for MSA. © 2023 International Parkinson and Movement Disorder Society. [ABSTRACT FROM AUTHOR]
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- 2024
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87. Latest bibliometrics of Polish Journal of Neurology and Neurosurgery
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Wszolek, Zbigniew K., primary, Stolarczyk, Łukasz, additional, and Sławek, Jarosław, additional
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- 2023
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88. Dopamine pathway and Parkinson’s risk variants are associated with levodopa-induced dyskinesia
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Sosero, Yuri L., primary, Bandres-Ciga, Sara, additional, Ferwerda, Bart, additional, Tocino, Maria T. P., additional, Belloso, Dìaz R., additional, Gómez-Garre, Pilar, additional, Faouzi, Johann, additional, Taba, Pille, additional, Pavelka, Lukas, additional, Marques, Tainà M., additional, Gomes, Clarissa P. C., additional, Kolodkin, Alexey, additional, May, Patrick, additional, Milanowski, Lukasz M, additional, Wszolek, Zbigniew K., additional, Uitti, Ryan J., additional, Heutink, Peter, additional, van Hilten, Jacobus J., additional, Simon, David K., additional, Eberly, Shirley, additional, Alvarez, Ignacio, additional, Krohn, Lynne, additional, Yu, Eric, additional, Freeman, Kathryn, additional, Rudakou, Uladzislau, additional, Ruskey, Jennifer A., additional, Asayesh, Farnaz, additional, Menéndez-Gonzàlez, Manuel, additional, Pastor, Pau, additional, Ross, Owen A., additional, Krüger, Rejko, additional, Corvol, Jean-Christophe, additional, Koks, Sulev, additional, Mir, Pablo, additional, De Bie, Rob M.A., additional, Iwaki, Hirotaka, additional, and Gan-Or, Ziv, additional
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- 2023
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89. C9ORF72 repeat expansions in cases with previously identified pathogenic mutations
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van Blitterswijk, Marka, Baker, Matthew C, DeJesus-Hernandez, Mariely, Ghidoni, Roberta, Benussi, Luisa, Finger, Elizabeth, Hsiung, Ging-Yuek R, Kelley, Brendan J, Murray, Melissa E, Rutherford, Nicola J, Brown, Patricia E, Ravenscroft, Thomas, Mullen, Bianca, Ash, Peter EA, Bieniek, Kevin F, Hatanpaa, Kimmo J, Karydas, Anna, Wood, Elisabeth McCarty, Coppola, Giovanni, Bigio, Eileen H, Lippa, Carol, Strong, Michael J, Beach, Thomas G, Knopman, David S, Huey, Edward D, Mesulam, Marsel, Bird, Thomas, White, Charles L, Kertesz, Andrew, Geschwind, Dan H, Van Deerlin, Vivianna M, Petersen, Ronald C, Binetti, Giuliano, Miller, Bruce L, Petrucelli, Leonard, Wszolek, Zbigniew K, Boylan, Kevin B, Graff-Radford, Neill R, Mackenzie, Ian R, Boeve, Bradley F, Dickson, Dennis W, and Rademakers, Rosa
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Biomedical and Clinical Sciences ,Clinical Sciences ,Genetics ,Frontotemporal Dementia (FTD) ,Dementia ,Brain Disorders ,Clinical Research ,Neurosciences ,Alzheimer's Disease Related Dementias (ADRD) ,Neurodegenerative ,Alzheimer's Disease including Alzheimer's Disease Related Dementias (AD/ADRD) ,Acquired Cognitive Impairment ,2.1 Biological and endogenous factors ,Aetiology ,Neurological ,Aged ,Aged ,80 and over ,Autopsy ,C9orf72 Protein ,Cohort Studies ,DNA Repeat Expansion ,Female ,Follow-Up Studies ,Genetic Predisposition to Disease ,Genetic Testing ,Humans ,Intercellular Signaling Peptides and Proteins ,Male ,Microtubule-Associated Proteins ,Middle Aged ,Neurodegenerative Diseases ,Phenotype ,Progranulins ,Proteins ,tau Proteins ,Cognitive Sciences ,Neurology & Neurosurgery ,Clinical sciences - Abstract
ObjectiveTo identify potential genetic modifiers contributing to the phenotypic variability that is detected in patients with repeat expansions in chromosome 9 open reading frame 72 (C9ORF72), we investigated the frequency of these expansions in a cohort of 334 subjects previously found to carry mutations in genes known to be associated with a spectrum of neurodegenerative diseases.MethodsA 2-step protocol, with a fluorescent PCR and a repeat-primed PCR, was used to determine the presence of hexanucleotide expansions in C9ORF72. For one double mutant, we performed Southern blots to assess expansion sizes, and immunohistochemistry to characterize neuropathology.ResultsWe detected C9ORF72 repeat expansions in 4 of 334 subjects (1.2% [or 1.8% of 217 families]). All these subjects had behavioral phenotypes and also harbored well-known pathogenic mutations in either progranulin (GRN: p.C466LfsX46, p.R493X, p.C31LfsX35) or microtubule-associated protein tau (MAPT: p.P301L). Southern blotting of one double mutant with a p.C466LfsX46 GRN mutation demonstrated a long repeat expansion in brain (>3,000 repeats), and immunohistochemistry showed mixed neuropathology with characteristics of both C9ORF72 expansions and GRN mutations.ConclusionsOur findings indicate that co-occurrence of 2 evidently pathogenic mutations could contribute to the pleiotropy that is detected in patients with C9ORF72 repeat expansions. These findings suggest that patients with known mutations should not be excluded from further studies, and that genetic counselors should be aware of this phenomenon when advising patients and their family members.
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- 2013
90. Potential genetic modifiers of disease risk and age at onset in patients with frontotemporal lobar degeneration and GRN mutations: a genome-wide association study
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Pottier, Cyril, Zhou, Xiaolai, Perkerson, Ralph B, III, Baker, Matt, Jenkins, Gregory D, Serie, Daniel J, Ghidoni, Roberta, Benussi, Luisa, Binetti, Giuliano, López de Munain, Adolfo, Zulaica, Miren, Moreno, Fermin, Le Ber, Isabelle, Pasquier, Florence, Hannequin, Didier, Sánchez-Valle, Raquel, Antonell, Anna, Lladó, Albert, Parsons, Tammee M, Finch, NiCole A, Finger, Elizabeth C, Lippa, Carol F, Huey, Edward D, Neumann, Manuela, Heutink, Peter, Synofzik, Matthis, Wilke, Carlo, Rissman, Robert A, Slawek, Jaroslaw, Sitek, Emilia, Johannsen, Peter, Nielsen, Jørgen E, Ren, Yingxue, van Blitterswijk, Marka, DeJesus-Hernandez, Mariely, Christopher, Elizabeth, Murray, Melissa E, Bieniek, Kevin F, Evers, Bret M, Ferrari, Camilla, Rollinson, Sara, Richardson, Anna, Scarpini, Elio, Fumagalli, Giorgio G, Padovani, Alessandro, Hardy, John, Momeni, Parastoo, Ferrari, Raffaele, Frangipane, Francesca, Maletta, Raffaele, Anfossi, Maria, Gallo, Maura, Petrucelli, Leonard, Suh, EunRan, Lopez, Oscar L, Wong, Tsz H, van Rooij, Jeroen G J, Seelaar, Harro, Mead, Simon, Caselli, Richard J, Reiman, Eric M, Noel Sabbagh, Marwan, Kjolby, Mads, Nykjaer, Anders, Karydas, Anna M, Boxer, Adam L, Grinberg, Lea T, Grafman, Jordan, Spina, Salvatore, Oblak, Adrian, Mesulam, M-Marsel, Weintraub, Sandra, Geula, Changiz, Hodges, John R, Piguet, Olivier, Brooks, William S, Irwin, David J, Trojanowski, John Q, Lee, Edward B, Josephs, Keith A, Parisi, Joseph E, Ertekin-Taner, Nilüfer, Knopman, David S, Nacmias, Benedetta, Piaceri, Irene, Bagnoli, Silvia, Sorbi, Sandro, Gearing, Marla, Glass, Jonathan, Beach, Thomas G, Black, Sandra E, Masellis, Mario, Rogaeva, Ekaterina, Vonsattel, Jean-Paul, Honig, Lawrence S, Kofler, Julia, Bruni, Amalia C, Snowden, Julie, Mann, David, Pickering-Brown, Stuart, Diehl-Schmid, Janine, Winkelmann, Juliane, Galimberti, Daniela, Graff, Caroline, Öijerstedt, Linn, Troakes, Claire, Al-Sarraj, Safa, Cruchaga, Carlos, Cairns, Nigel J, Rohrer, Jonathan D, Halliday, Glenda M, Kwok, John B, van Swieten, John C, White, Charles L, III, Ghetti, Bernardino, Murell, Jill R, Mackenzie, Ian R A, Hsiung, Ging-Yuek R, Borroni, Barbara, Rossi, Giacomina, Tagliavini, Fabrizio, Wszolek, Zbigniew K, Petersen, Ronald C, Bigio, Eileen H, Grossman, Murray, Van Deerlin, Vivianna M, Seeley, William W, Miller, Bruce L, Graff-Radford, Neill R, Boeve, Bradley F, Dickson, Dennis W, Biernacka, Joanna M, and Rademakers, Rosa
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- 2018
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91. The effect of LRRK2 mutations on the cholinergic system in manifest and premanifest stages of Parkinson's disease: a cross-sectional PET study
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Liu, Shu-Ying, Wile, Daryl J, Fu, Jessie Fanglu, Valerio, Jason, Shahinfard, Elham, McCormick, Siobhan, Mabrouk, Rostom, Vafai, Nasim, McKenzie, Jess, Neilson, Nicole, Perez-Soriano, Alexandra, Arena, Julieta E, Cherkasova, Mariya, Chan, Piu, Zhang, Jing, Zabetian, Cyrus P, Aasly, Jan O, Wszolek, Zbigniew K, McKeown, Martin J, Adam, Michael J, Ruth, Thomas J, Schulzer, Michael, Sossi, Vesna, and Stoessl, A Jon
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- 2018
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92. Comparison of clinical features among Parkinson's disease subtypes: A large retrospective study in a single center
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Konno, Takuya, Deutschländer, Angela, Heckman, Michael G., Ossi, Maryam, Vargas, Emily R., Strongosky, Audrey J., van Gerpen, Jay A., Uitti, Ryan J., Ross, Owen A., and Wszolek, Zbigniew K.
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- 2018
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93. The limbic and neocortical contribution of α-synuclein, tau, and amyloid β to disease duration in dementia with Lewy bodies
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Ferman, Tanis J., Aoki, Naoya, Crook, Julia E., Murray, Melissa E., Graff-Radford, Neill R., van Gerpen, Jay A., Uitti, Ryan J., Wszolek, Zbigniew K., Graff-Radford, Jonathan, Pedraza, Otto, Kantarci, Kejal, Boeve, Bradley F., and Dickson, Dennis W.
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- 2018
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94. TREM2 in neurodegeneration: evidence for association of the p.R47H variant with frontotemporal dementia and Parkinson¿s disease
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Rayaprolu, Sruti, Mullen, Bianca, Baker, Matt, Lynch, Timothy, Finger, Elizabeth, Seeley, William W, Hatanpaa, Kimmo J, Lomen-Hoerth, Catherine, Kertesz, Andrew, Bigio, Eileen H, Lippa, Carol, Josephs, Keith A, Knopman, David S, White, Charles L, Caselli, Richard, Mackenzie, Ian R, Miller, Bruce L, Boczarska-Jedynak, Magdalena, Opala, Grzegorz, Krygowska-Wajs, Anna, Barcikowska, Maria, Younkin, Steven G, Petersen, Ronald C, Ertekin-Taner, Nilüfer, Uitti, Ryan J, Meschia, James F, Boylan, Kevin B, Boeve, Bradley F, Graff-Radford, Neill R, Wszolek, Zbigniew K, Dickson, Dennis W, Rademakers, Rosa, and Ross, Owen A
- Abstract
Abstract Background A rare variant in the Triggering Receptor Expressed on Myeloid cells 2 (TREM2) gene has been reported to be a genetic risk factor for Alzheimer’s disease by two independent groups (Odds ratio between 2.9-4.5). Given the key role of TREM2 in the effective phagocytosis of apoptotic neuronal cells by microglia, we hypothesized that dysfunction of TREM2 may play a more generalized role in neurodegeneration. With this in mind we set out to assess the genetic association of the Alzheimer’s disease-related risk variant in TREM2 (rs75932628, p.R47H) with other related neurodegenerative disorders. Results The study included 609 patients with frontotemporal dementia, 765 with amyotrophic lateral sclerosis, 1493 with Parkinson’s disease, 772 with progressive supranuclear palsy, 448 with ischemic stroke and 1957 controls subjects free of neurodegenerative disease. A significant association was observed for the TREM2 p.R47H substitution in susceptibility to frontotemporal dementia (OR = 5.06; p-value = 0.001) and Parkinson’s disease (OR = 2.67; p-value = 0.026), while no evidence of association with risk of amyotrophic lateral sclerosis, progressive supranuclear palsy or ischemic stroke was observed. Conclusions Our results suggest that the TREM2 p.R47H substitution is a risk factor for frontotemporal dementia and Parkinson’s disease in addition to Alzheimer’s disease. These findings suggest a more general role for TREM2 dysfunction in neurodegeneration, which could be related to its role in the immune response.
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- 2013
95. Length of normal alleles of C9ORF72 GGGGCC repeat do not influence disease phenotype
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Rutherford, Nicola J, Heckman, Michael G, DeJesus-Hernandez, Mariely, Baker, Matt C, Soto-Ortolaza, Alexandra I, Rayaprolu, Sruti, Stewart, Heather, Finger, Elizabeth, Volkening, Kathryn, Seeley, William W, Hatanpaa, Kimmo J, Lomen-Hoerth, Catherine, Kertesz, Andrew, Bigio, Eileen H, Lippa, Carol, Knopman, David S, Kretzschmar, Hans A, Neumann, Manuela, Caselli, Richard J, White, Charles L, Mackenzie, Ian R, Petersen, Ronald C, Strong, Michael J, Miller, Bruce L, Boeve, Bradley F, Uitti, Ryan J, Boylan, Kevin B, Wszolek, Zbigniew K, Graff-Radford, Neill R, Dickson, Dennis W, Ross, Owen A, and Rademakers, Rosa
- Subjects
Biomedical and Clinical Sciences ,Neurosciences ,Acquired Cognitive Impairment ,ALS ,Clinical Research ,Alzheimer's Disease including Alzheimer's Disease Related Dementias (AD/ADRD) ,Rare Diseases ,Brain Disorders ,Genetics ,Dementia ,Frontotemporal Dementia (FTD) ,Alzheimer's Disease Related Dementias (ADRD) ,Neurodegenerative ,2.1 Biological and endogenous factors ,Aetiology ,Neurological ,Adult ,Aged ,Aged ,80 and over ,Amyotrophic Lateral Sclerosis ,C9orf72 Protein ,DNA Repeat Expansion ,Female ,Frontotemporal Dementia ,Genetic Predisposition to Disease ,Humans ,Male ,Middle Aged ,Proteins ,Amyotrophic lateral sclerosis ,Frontotemporal dementia ,C9ORF72 ,Repeat-expansion disease ,Association study ,Clinical Sciences ,Neurology & Neurosurgery ,Biological psychology - Abstract
Expansions of the noncoding GGGGCC hexanucleotide repeat in the Chromosome 9 open reading frame 72 (C9ORF72) gene cause frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS). In this study we aimed to determine whether the length of the normal-unexpanded-allele of the GGGGCC repeat in C9ORF72 plays a role in the presentation of disease or affects age at onset in C9ORF72 mutation carriers. We also studied whether the GGGGCC repeat length confers risk or affects age at onset in FTD and ALS patients without C9ORF72 repeat expansions. C9ORF72 genotyping was performed in 580 FTD, 995 ALS, and 160 FTD-ALS patients, and 1444 controls, leading to the identification of 211 patients with pathogenic C9ORF72 repeat expansions. No meaningful association between the repeat length of the normal alleles of the GGGGCC repeat in C9ORF72 and disease phenotype or age at onset was observed in C9ORF72 mutation carriers or nonmutation carriers.
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- 2012
96. Identification and functional characterization of novel mutations including frameshift mutation in exon 4 of CSF1R in patients with adult-onset leukoencephalopathy with axonal spheroids and pigmented glia
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Miura, Takeshi, Mezaki, Naomi, Konno, Takuya, Iwasaki, Akio, Hara, Naoyuki, Miura, Masatomo, Funayama, Michitaka, Unai, Yuki, Tashiro, Yuichi, Okita, Kenji, Kihara, Takeshi, Ito, Nobuo, Kanatsuka, Yoichi, Jones, David T., Hara, Norikazu, Ishiguro, Takanobu, Tokutake, Takayoshi, Kasuga, Kensaku, Nozaki, Hiroaki, Dickson, Dennis W., Onodera, Osamu, Wszolek, Zbigniew K., and Ikeuchi, Takeshi
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- 2018
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97. Polymorphic genes of detoxification and mitochondrial enzymes and risk for progressive supranuclear palsy: A case control study
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Potts, Lisa F, Cambon, Alex C, Ross, Owen A, Rademakers, Rosa, Dickson, Dennis W, Uitti, Ryan J, Wszolek, Zbigniew K, Rai, Shesh N, Farrer, Matthew J, Hein, David W, and Litvan, Irene
- Abstract
Abstract Background There are no known causes for progressive supranuclear palsy (PSP). The microtubule associated protein tau (MAPT) H1 haplotype is the major genetic factor associated with risk of PSP, with both oxidative stress and mitochondrial dysfunction also implicated. We investigated whether specific single nucleotide polymorphisms (SNPs) in genes encoding enzymes of xenobiotic detoxification, mitochondrial functioning, or oxidative stress response, including debrisoquine 4-hydroxylase, paraoxonase 1 and 2, N-acetyltransferase 1 and 2 (NAT2), superoxide dismutase 1 and 2, and PTEN-induced putative kinase are associated with PSP. Methods DNA from 553 autopsy-confirmed Caucasian PSP cases (266 females, 279 males; age at onset 68 ± 8 years; age at death 75 ± 8) from the Society for PSP Brain Bank and 425 clinical control samples (197 females, 226 males; age at draw 72 ± 11 years) from healthy volunteers were genotyped using Taqman PCR and the SequenomiPLEX Gold assay. Results The proportion of NAT2 rapid acetylators compared to intermediate and slow acetylators was larger in cases than in controls (OR = 1.82, p < 0.05). There were no allelic or genotypic associations with PSP for any other SNPs tested with the exception of MAPT (p < 0.001). Conclusions Our results show that NAT2 rapid acetylator phenotype is associated with PSP, suggesting that NAT2 may be responsible for activation of a xenobiotic whose metabolite is neurotoxic. Although our results need to be further confirmed in an independent sample, NAT2 acetylation status should be considered in future genetic and epidemiological studies of PSP.
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- 2012
98. Creation of an open-access, mutation-defined fibroblast resource for neurological disease research.
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Wray, Selina, Self, Matthew, NINDS Parkinson's Disease iPSC Consortium, NINDS Huntington's Disease iPSC Consortium, NINDS ALS iPSC Consortium, Lewis, Patrick A, Taanman, Jan-Willem, Ryan, Natalie S, Mahoney, Colin J, Liang, Yuying, Devine, Michael J, Sheerin, Una-Marie, Houlden, Henry, Morris, Huw R, Healy, Daniel, Marti-Masso, Jose-Felix, Preza, Elisavet, Barker, Suzanne, Sutherland, Margaret, Corriveau, Roderick A, D'Andrea, Michael, Schapira, Anthony HV, Uitti, Ryan J, Guttman, Mark, Opala, Grzegorz, Jasinska-Myga, Barbara, Puschmann, Andreas, Nilsson, Christer, Espay, Alberto J, Slawek, Jaroslaw, Gutmann, Ludwig, Boeve, Bradley F, Boylan, Kevin, Stoessl, A Jon, Ross, Owen A, Maragakis, Nicholas J, Van Gerpen, Jay, Gerstenhaber, Melissa, Gwinn, Katrina, Dawson, Ted M, Isacson, Ole, Marder, Karen S, Clark, Lorraine N, Przedborski, Serge E, Finkbeiner, Steven, Rothstein, Jeffrey D, Wszolek, Zbigniew K, Rossor, Martin N, and Hardy, John
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NINDS Parkinson's Disease iPSC Consortium ,NINDS Huntington's Disease iPSC Consortium ,NINDS ALS iPSC Consortium ,Cell Line ,Fibroblasts ,Humans ,Nervous System Diseases ,Biopsy ,Immunohistochemistry ,Cell Differentiation ,Cell Proliferation ,Mutation ,Models ,Genetic ,Access to Information ,Databases ,Factual ,Tissue Banks ,Induced Pluripotent Stem Cells ,Stem Cell Research - Induced Pluripotent Stem Cell - Human ,Stem Cell Research - Induced Pluripotent Stem Cell ,Genetics ,Stem Cell Research ,Neurosciences ,Brain Disorders ,Aetiology ,2.6 Resources and infrastructure (aetiology) ,2.1 Biological and endogenous factors ,Generic health relevance ,Neurological ,General Science & Technology - Abstract
Our understanding of the molecular mechanisms of many neurological disorders has been greatly enhanced by the discovery of mutations in genes linked to familial forms of these diseases. These have facilitated the generation of cell and animal models that can be used to understand the underlying molecular pathology. Recently, there has been a surge of interest in the use of patient-derived cells, due to the development of induced pluripotent stem cells and their subsequent differentiation into neurons and glia. Access to patient cell lines carrying the relevant mutations is a limiting factor for many centres wishing to pursue this research. We have therefore generated an open-access collection of fibroblast lines from patients carrying mutations linked to neurological disease. These cell lines have been deposited in the National Institute for Neurological Disorders and Stroke (NINDS) Repository at the Coriell Institute for Medical Research and can be requested by any research group for use in in vitro disease modelling. There are currently 71 mutation-defined cell lines available for request from a wide range of neurological disorders and this collection will be continually expanded. This represents a significant resource that will advance the use of patient cells as disease models by the scientific community.
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- 2012
99. MAPT subhaplotypes in corticobasal degeneration: assessing associations with disease risk, severity of tau pathology, and clinical features
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Valentino, Rebecca R., Koga, Shunsuke, Walton, Ronald L., Soto-Beasley, Alexandra I., Kouri, Naomi, DeTure, Michael A., Murray, Melissa E., Johnson, Patrick W., Petersen, Ronald C., Boeve, Bradley F., Uitti, Ryan J., Wszolek, Zbigniew K., Dickson, Dennis W., Ross, Owen A., and Heckman, Michael G.
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- 2020
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100. APOE4 exacerbates synapse loss and neurodegeneration in Alzheimer’s disease patient iPSC-derived cerebral organoids
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Zhao, Jing, Fu, Yuan, Yamazaki, Yu, Ren, Yingxue, Davis, Mary D., Liu, Chia-Chen, Lu, Wenyan, Wang, Xue, Chen, Kai, Cherukuri, Yesesri, Jia, Lin, Martens, Yuka A., Job, Lucy, Shue, Francis, Nguyen, Thanh Thanh, Younkin, Steven G., Graff-Radford, Neill R., Wszolek, Zbigniew K., Brafman, David A., Asmann, Yan W., Ertekin-Taner, Nilüfer, Kanekiyo, Takahisa, and Bu, Guojun
- Published
- 2020
- Full Text
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