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151. Potential Preventive Strategies for Amyotrophic Lateral Sclerosis

Author

Kuraszkiewicz, B., Goszczynska, H., Podsiadly-Marczykowska, T., Piotrkiewicz, M., Andersen, Peter M., Gromicho, M., Grosskreutz, J., Kuzma-Kozakiewicz, M., Petri, S., Stubbendorf, B., Szacka, K., Uysal, H., de Carvalho, M., Kuraszkiewicz, B., Goszczynska, H., Podsiadly-Marczykowska, T., Piotrkiewicz, M., Andersen, Peter M., Gromicho, M., Grosskreutz, J., Kuzma-Kozakiewicz, M., Petri, S., Stubbendorf, B., Szacka, K., Uysal, H., and de Carvalho, M.

Abstract

It may seem useless to propose preventive measures for a disease without established pathogenesis and successful therapy, such as amyotrophic lateral sclerosis (ALS). However, we will show that ALS shares essential molecular mechanisms with aging and that established anti-aging strategies, such as healthy diet or individually adjusted exercise, may be successfully applied to ameliorate the condition of ALS patients. These strategies might be applied for prevention if persons at ALS risk could be identified early enough. Recent research advances indicate that this may happen soon.

Published
2020
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152. SQSTM1/p62 variants in 486 patients with familial ALS from Germany and Sweden

Author

Yilmaz, Rüstem, Müller, Kathrin, Brenner, David, Volk, Alexander E., Borck, Guntram, Hermann, Andreas, Meitinger, Thomas, Strom, Tim M., Danzer, Karin M., Ludolph, Albert C., Andersen, Peter M., Weishaupt, Jochen H., Yilmaz, Rüstem, Müller, Kathrin, Brenner, David, Volk, Alexander E., Borck, Guntram, Hermann, Andreas, Meitinger, Thomas, Strom, Tim M., Danzer, Karin M., Ludolph, Albert C., Andersen, Peter M., and Weishaupt, Jochen H.

Abstract

Several studies reported amyotrophic lateral sclerosis (ALS)-linked mutations in TBK1, OPTN, VCP, UBQLN2, and SQSTM1 genes encoding proteins involved in autophagy. SQSTM1 was originally identified by a candidate gene approach because it encodes p62, a multifunctional protein involved in protein degradation both through proteasomal regulation and autophagy. Both p62 and optineurin (encoded by OPTN) are direct interaction partners and substrates of TBK1, and these 3 proteins form the core of a genetic and functional network that may connect autophagy with ALS. Considering the molecular and conceptual relevance of the TBK1/OPTN/SQSTM1 "triangle," we here performed a targeted screen for SQSTM1 variants in 486 patients with familial ALS from Germany and Sweden by analyzing whole-exome sequencing data. We report 9 novel and 5 previously reported rare variants in SQSTM1 and discuss the current evidence for SQSTM1 as a primary disease gene for ALS. We conclude that the evidence for causality remains vague for SQSTM1 and is weaker than for the other autophagy genes, for example, TBK1 and OPTN.

Published
2020
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154. Rare heterozygous DHTKD1 variants in patients with amyotrophic lateral sclerosis

Author

Gogol, I., Osmanovic, A., Martens, H., Widjaja, M., Mueller, K., Schreiber-Katz, O., Schmidt, G., Auber, B., Andersen, Peter M., Ludolph, A., Weishaupt, J., Brand, F., Petri, S., Weber, R. G., Gogol, I., Osmanovic, A., Martens, H., Widjaja, M., Mueller, K., Schreiber-Katz, O., Schmidt, G., Auber, B., Andersen, Peter M., Ludolph, A., Weishaupt, J., Brand, F., Petri, S., and Weber, R. G.

Abstract

Supplement: 1Meeting Abstract: P10.15.A

Published
2020

155. Transethnic Genome-Wide Association Study Provides Insights in the Genetic Architecture and Heritability of Long QT Syndrome

Author

ZL Neuromusculaire Ziekten Medisch, Brain, Projectafdeling ALS, Regenerative Medicine and Stem Cells, Circulatory Health, Genetica, UMC Utrecht, Lahrouchi, Najim, Tadros, Rafik, Crotti, Lia, Mizusawa, Yuka, Postema, Pieter G, Beekman, Leander, Walsh, Roddy, Hasegawa, Kanae, Barc, Julien, Ernsting, Marko, Turkowski, Kari L, Mazzanti, Andrea, Beckmann, Britt M, Shimamoto, Keiko, Diamant, Ulla-Britt, Wijeyeratne, Yanushi D, Kucho, Yu, Robyns, Tomas, Ishikawa, Taisuke, Arbelo, Elena, Christiansen, Michael, Winbo, Annika, Jabbari, Reza, Lubitz, Steven A, Steinfurt, Johannes, Rudic, Boris, Loeys, Bart, Shoemaker, M Ben, Weeke, Peter E, Pfeiffer, Ryan, Davies, Brianna, Andorin, Antoine, Hofman, Nynke, Dagradi, Federica, Pedrazzini, Matteo, Tester, David J, Bos, J Martijn, Sarquella-Brugada, Georgia, Campuzano, Óscar, Platonov, Pyotr G, Stallmeyer, Birgit, Zumhagen, Sven, Nannenberg, Eline A, Veldink, Jan H, van den Berg, Leonard H, Al-Chalabi, Ammar, Shaw, Christopher E, Shaw, Pamela J, Morrison, Karen E, Andersen, Peter M, Müller-Nurasyid, Martina, Cusi, Daniele, Barlassina, Cristina, Galan, Pilar, Lathrop, Mark, Munter, Markus, Werge, Thomas, Ribasés, Marta, Aung, Tin, Khor, Chiea C, Ozaki, Mineo, Lichtner, Peter, Meitinger, Thomas, van Tintelen, J Peter, Hoedemaekers, Yvonne, Denjoy, Isabelle, Leenhardt, Antoine, Napolitano, Carlo, Shimizu, Wataru, Schott, Jean-Jacques, Gourraud, Jean-Baptiste, Makiyama, Takeru, Ohno, Seiko, Itoh, Hideki, Krahn, Andrew D, Antzelevitch, Charles, Roden, Dan M, Saenen, Johan, Borggrefe, Martin, Odening, Katja E, Ellinor, Patrick T, Tfelt-Hansen, Jacob, Skinner, Jonathan R, van den Berg, Maarten P, Olesen, Morten Salling, Brugada, Josep, Brugada, Ramón, Makita, Naomasa, Breckpot, Jeroen, Yoshinaga, Masao, Behr, Elijah R, Rydberg, Annika, Aiba, Takeshi, Kääb, Stefan, Priori, Silvia G, Guicheney, Pascale, Tan, Hanno L, Newton-Cheh, Christopher, Ackerman, Michael J, Schwartz, Peter J, Schulze-Bahr, Eric, Probst, Vincent, Horie, Minoru, Wilde, Arthur A, Tanck, Michael W T, Bezzina, Connie R, ZL Neuromusculaire Ziekten Medisch, Brain, Projectafdeling ALS, Regenerative Medicine and Stem Cells, Circulatory Health, Genetica, UMC Utrecht, Lahrouchi, Najim, Tadros, Rafik, Crotti, Lia, Mizusawa, Yuka, Postema, Pieter G, Beekman, Leander, Walsh, Roddy, Hasegawa, Kanae, Barc, Julien, Ernsting, Marko, Turkowski, Kari L, Mazzanti, Andrea, Beckmann, Britt M, Shimamoto, Keiko, Diamant, Ulla-Britt, Wijeyeratne, Yanushi D, Kucho, Yu, Robyns, Tomas, Ishikawa, Taisuke, Arbelo, Elena, Christiansen, Michael, Winbo, Annika, Jabbari, Reza, Lubitz, Steven A, Steinfurt, Johannes, Rudic, Boris, Loeys, Bart, Shoemaker, M Ben, Weeke, Peter E, Pfeiffer, Ryan, Davies, Brianna, Andorin, Antoine, Hofman, Nynke, Dagradi, Federica, Pedrazzini, Matteo, Tester, David J, Bos, J Martijn, Sarquella-Brugada, Georgia, Campuzano, Óscar, Platonov, Pyotr G, Stallmeyer, Birgit, Zumhagen, Sven, Nannenberg, Eline A, Veldink, Jan H, van den Berg, Leonard H, Al-Chalabi, Ammar, Shaw, Christopher E, Shaw, Pamela J, Morrison, Karen E, Andersen, Peter M, Müller-Nurasyid, Martina, Cusi, Daniele, Barlassina, Cristina, Galan, Pilar, Lathrop, Mark, Munter, Markus, Werge, Thomas, Ribasés, Marta, Aung, Tin, Khor, Chiea C, Ozaki, Mineo, Lichtner, Peter, Meitinger, Thomas, van Tintelen, J Peter, Hoedemaekers, Yvonne, Denjoy, Isabelle, Leenhardt, Antoine, Napolitano, Carlo, Shimizu, Wataru, Schott, Jean-Jacques, Gourraud, Jean-Baptiste, Makiyama, Takeru, Ohno, Seiko, Itoh, Hideki, Krahn, Andrew D, Antzelevitch, Charles, Roden, Dan M, Saenen, Johan, Borggrefe, Martin, Odening, Katja E, Ellinor, Patrick T, Tfelt-Hansen, Jacob, Skinner, Jonathan R, van den Berg, Maarten P, Olesen, Morten Salling, Brugada, Josep, Brugada, Ramón, Makita, Naomasa, Breckpot, Jeroen, Yoshinaga, Masao, Behr, Elijah R, Rydberg, Annika, Aiba, Takeshi, Kääb, Stefan, Priori, Silvia G, Guicheney, Pascale, Tan, Hanno L, Newton-Cheh, Christopher, Ackerman, Michael J, Schwartz, Peter J, Schulze-Bahr, Eric, Probst, Vincent, Horie, Minoru, Wilde, Arthur A, Tanck, Michael W T, and Bezzina, Connie R

Published
2020

156. ITPR2 as a susceptibility gene in sporadic amyotrophic lateral sclerosis: a genome-wide association study

Author

van Es, Michael A, Van Vught, Paul W, Blauw, Hylke M, Franke, Lude, Saris, Christiaan G, Andersen, Peter M, Van Den Bosch, Ludo, de Jong, Sonja W, van 't Slot, Ruben, Birve, Anna, Lemmens, Robin, de Jong, Vianney, Baas, Frank, Schelhaas, Helenius J, Sleegers, Kristel, Van Broeckhoven, Christine, Wokke, John HJ, Wijmenga, Cisca, Robberecht, Wim, Veldink, Jan H, Ophoff, Roel A, and van den Berg, Leonard H

Published
2007
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157. Gut microbiota–specific IgA + B cells traffic to the CNS in active multiple sclerosis

Author

Pröbstel, Anne-Katrin, primary, Zhou, Xiaoyuan, additional, Baumann, Ryan, additional, Wischnewski, Sven, additional, Kutza, Michael, additional, Rojas, Olga L., additional, Sellrie, Katrin, additional, Bischof, Antje, additional, Kim, Kicheol, additional, Ramesh, Akshaya, additional, Dandekar, Ravi, additional, Greenfield, Ariele L., additional, Schubert, Ryan D., additional, Bisanz, Jordan E., additional, Vistnes, Stephanie, additional, Khaleghi, Khashayar, additional, Landefeld, James, additional, Kirkish, Gina, additional, Liesche-Starnecker, Friederike, additional, Ramaglia, Valeria, additional, Singh, Sneha, additional, Tran, Edwina B., additional, Barba, Patrick, additional, Zorn, Kelsey, additional, Oechtering, Johanna, additional, Forsberg, Karin, additional, Shiow, Lawrence R., additional, Henry, Roland G., additional, Graves, Jennifer, additional, Cree, Bruce A. C., additional, Hauser, Stephen L., additional, Kuhle, Jens, additional, Gelfand, Jeffrey M., additional, Andersen, Peter M., additional, Schlegel, Jürgen, additional, Turnbaugh, Peter J., additional, Seeberger, Peter H., additional, Gommerman, Jennifer L., additional, Wilson, Michael R., additional, Schirmer, Lucas, additional, and Baranzini, Sergio E., additional

Published
2020
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159. A Rare Motor Neuron Deleterious Missense Mutation in the DPYSL3 (CRMP4) Gene is Associated with ALS

Author

Blasco, Hélène, Bernard-Marissal, Nathalie, Vourcʼh, Patrick, Guettard, Yves Olivier, Sunyach, Claire, Augereau, Olivier, Khederchah, Joelle, Mouzat, Kevin, Antar, Catherine, Gordon, Paul H., Veyrat-Durebex, Charlotte, Besson, Gérard, Andersen, Peter M., Salachas, François, Meininger, Vincent, Camu, William, Pettmann, Brigitte, Andres, Christian R., and Corcia, Philippe

Published
2013
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161. SOD1 mutations associated with amyotrophic lateral sclerosis analysis of variant severity.

Author

Berdyński, Mariusz, Miszta, Przemysław, Safranow, Krzysztof, Andersen, Peter M., Morita, Mitsuya, Filipek, Sławomir, Żekanowski, Cezary, and Kuźma-Kozakiewicz, Magdalena

Subjects
AMYOTROPHIC lateral sclerosis, MOTOR neuron diseases, GENETIC mutation, MOTOR neurons, SUPEROXIDE dismutase, PROTEIN structure, PROTEIN analysis
Abstract

Mutations in superoxide dismutase 1 gene (SOD1) are linked to amyotrophic lateral sclerosis (ALS), a neurodegenerative disorder predominantly affecting upper and lower motor neurons. The clinical phenotype of ALS shows inter- and intrafamilial heterogeneity. The aim of the study was to analyze the relations between individual SOD1 mutations and the clinical presentation using in silico methods to assess the SOD1 mutations severity. We identified SOD1 causative variants in a group of 915 prospectively tested consecutive Polish ALS patients from a neuromuscular clinical center, performed molecular modeling of mutated SOD1 proteins and in silico analysis of mutation impact on clinical phenotype and survival analysis of associations between mutations and hazard of clinical end-points. Fifteen SOD1 mutations were identified in 21.1% familial and 2.3% sporadic ALS cases. Their effects on SOD1 protein structure and functioning inferred from molecular modeling and in silico analyses correlate well with the clinical data. Molecular modeling results support the hypothesis that folding intermediates rather than mature SOD1 protein give rise to the source of cytotoxic conformations in ALS. Significant associations between type of mutation and clinical end-points were found. [ABSTRACT FROM AUTHOR]

Published
2022
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162. FUS mutations dominate TBK1 mutations in FUS/TBK1 double-mutant ALS/FTD pedigrees.

Author

Brenner, David, Müller, Kathrin, Lattante, Serena, Yilmaz, Rüstem, Knehr, Antje, Freischmidt, Axel, Ludolph, Albert C., Andersen, Peter M., and Weishaupt, Jochen H.

Subjects
AMYOTROPHIC lateral sclerosis, FRONTOTEMPORAL dementia, GENETIC mutation, PATIENTS' families, FRONTOTEMPORAL lobar degeneration
Abstract

Mutations in FUS and TBK1 often cause aggressive early-onset amyotrophic lateral sclerosis (ALS) or a late-onset ALS and/or frontotemporal dementia (FTD) phenotype, respectively. Co-occurrence of mutations in two or more Mendelian ALS/FTD genes has been repeatedly reported. However, little is known how two pathogenic ALS/FTD mutations in the same patient interact to shape the final phenotype. We screened 28 ALS patients with a known FUS mutation by whole-exome sequencing and targeted evaluation for mutations in other known ALS genes followed by genotype–phenotype correlation analysis of FUS/TBK1 double-mutant patients. We report on new and summarize previously published FUS and TBK1 double-mutant ALS/FTD patients and their families. We found that, within a family, mutations in FUS cause ALS while TBK1 single mutations are observed in FTD patients. FUS/TBK1 double mutations manifested as ALS and without a manifest difference regarding age at onset and disease duration when compared to FUS single-mutant individuals. In conclusion, TBK1 and FUS variants do not seem to interact in a simple additive way. Rather, the phenotype of FUS/TBK1 double-mutant patients appears to be dominated by the FUS mutation. [ABSTRACT FROM AUTHOR]

Published
2022
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163. Preventing amyotrophic lateral sclerosis: insights from pre-symptomatic neurodegenerative diseases.

Author

Benatar, Michael, Wuu, Joanne, McHutchison, Caroline, Postuma, Ronald B, Boeve, Bradley F, Petersen, Ronald, Ross, Christopher A, Rosen, Howard, Arias, Jalayne J, Fradette, Stephanie, McDermott, Michael P, Shefner, Jeremy, Stanislaw, Christine, Abrahams, Sharon, Cosentino, Stephanie, Andersen, Peter M, Finkel, Richard S, Granit, Volkan, Grignon, Anne-Laure, and Rohrer, Jonathan D

Subjects
ALZHEIMER'S disease, AMYOTROPHIC lateral sclerosis, SYMPTOMS, RESEARCH funding, NEURODEGENERATION, FRONTOTEMPORAL dementia
Abstract

Significant progress has been made in understanding the pre-symptomatic phase of amyotrophic lateral sclerosis. While much is still unknown, advances in other neurodegenerative diseases offer valuable insights. Indeed, it is increasingly clear that the well-recognized clinical syndromes of Alzheimer's disease, Parkinson's disease, Huntington's disease, spinal muscular atrophy and frontotemporal dementia are also each preceded by a pre-symptomatic or prodromal period of varying duration, during which the underlying disease process unfolds, with associated compensatory changes and loss of inherent system redundancy. Key insights from these diseases highlight opportunities for discovery in amyotrophic lateral sclerosis. The development of biomarkers reflecting amyloid and tau has led to a shift in defining Alzheimer's disease based on inferred underlying histopathology. Parkinson's disease is unique among neurodegenerative diseases in the number and diversity of non-genetic biomarkers of pre-symptomatic disease, most notably REM sleep behaviour disorder. Huntington's disease benefits from an ability to predict the likely timing of clinically manifest disease based on age and CAG-repeat length alongside reliable neuroimaging markers of atrophy. Spinal muscular atrophy clinical trials have highlighted the transformational value of early therapeutic intervention, and studies in frontotemporal dementia illustrate the differential role of biomarkers based on genotype. Similar advances in amyotrophic lateral sclerosis would transform our understanding of key events in pathogenesis, thereby dramatically accelerating progress towards disease prevention. Deciphering the biology of pre-symptomatic amyotrophic lateral sclerosis relies on a clear conceptual framework for defining the earliest stages of disease. Clinically manifest amyotrophic lateral sclerosis may emerge abruptly, especially among those who harbour genetic mutations associated with rapidly progressive amyotrophic lateral sclerosis. However, the disease may also evolve more gradually, revealing a prodromal period of mild motor impairment preceding phenoconversion to clinically manifest disease. Similarly, cognitive and behavioural impairment, when present, may emerge gradually, evolving through a prodromal period of mild cognitive impairment or mild behavioural impairment before progression to amyotrophic lateral sclerosis. Biomarkers are critically important to studying pre-symptomatic amyotrophic lateral sclerosis and essential to efforts to intervene therapeutically before clinically manifest disease emerges. The use of non-genetic biomarkers, however, presents challenges related to counselling, informed consent, communication of results and limited protections afforded by existing legislation. Experiences from pre-symptomatic genetic testing and counselling, and the legal protections against discrimination based on genetic data, may serve as a guide. Building on what we have learned-more broadly from other pre-symptomatic neurodegenerative diseases and specifically from amyotrophic lateral sclerosis gene mutation carriers-we present a road map to early intervention, and perhaps even disease prevention, for all forms of amyotrophic lateral sclerosis. [ABSTRACT FROM AUTHOR]

Published
2022
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168. Angiogenin Variants in Parkinson Disease and Amyotrophic Lateral Sclerosis

Author

van Es, Michael A., Schelhaas, Helenius J., van Vught, Paul W. J., Ticozzi, Nicola, Andersen, Peter M., Groen, Ewout J. N., Schulte, Claudia, Blauw, Hylke M., Koppers, Max, Diekstra, Frank P., Fumoto, Katsumi, LeClerc, Ashley Lyn, Keagle, Pamela, Bloem, Bastiaan R., Scheffer, Hans, van Nuenen, Bart F. L., van Blitterswijk, Marka, van Rheenen, Wouter, Wills, Anne–Marie, Lowe, Patrick P., Hu, Guo–fu, Yu, Wenhao, Kishikawa, Hiroko, Wu, David, Folkerth, Rebecca D., Mariani, Claudio, Goldwurm, Stefano, Pezzoli, Gianni, Van Damme, Philip, Lemmens, Robin, Dahlberg, Caroline, Birve, Anna, Fernández–Santiago, Rubén, Waibel, Stefan, Klein, Christine, Weber, Markus, van der Kooi, Anneke J., de Visser, Marianne, Verbaan, Dagmar, van Hilten, Jacobus J., Heutink, Peter, Hennekam, Eric A. M., Cuppen, Edwin, Berg, Daniela, Brown, Robert H., Jr, Silani, Vincenzo, Gasser, Thomas, Ludolph, Albert C., Robberecht, Wim, Ophoff, Roel A., Veldink, Jan H., Pasterkamp, Jeroen R., de Bakker, Paul I. W., Landers, John E., van de Warrenburg, Bart P., and van den Berg, Leonard H.

Published
2011
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173. Phase 1–2 Trial of Antisense Oligonucleotide Tofersen for SOD1 ALS

Author

Miller, Timothy, primary, Cudkowicz, Merit, additional, Shaw, Pamela J., additional, Andersen, Peter M., additional, Atassi, Nazem, additional, Bucelli, Robert C., additional, Genge, Angela, additional, Glass, Jonathan, additional, Ladha, Shafeeq, additional, Ludolph, Albert L., additional, Maragakis, Nicholas J., additional, McDermott, Christopher J., additional, Pestronk, Alan, additional, Ravits, John, additional, Salachas, François, additional, Trudell, Randall, additional, Van Damme, Philip, additional, Zinman, Lorne, additional, Bennett, C. Frank, additional, Lane, Roger, additional, Sandrock, Alfred, additional, Runz, Heiko, additional, Graham, Danielle, additional, Houshyar, Hani, additional, McCampbell, Alexander, additional, Nestorov, Ivan, additional, Chang, Ih, additional, McNeill, Manjit, additional, Fanning, Laura, additional, Fradette, Stephanie, additional, and Ferguson, Toby A., additional

Published
2020
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174. SQSTM1/p62 variants in 486 patients with familial ALS from Germany and Sweden

Author

Yilmaz, Rüstem, primary, Müller, Kathrin, additional, Brenner, David, additional, Volk, Alexander E., additional, Borck, Guntram, additional, Hermann, Andreas, additional, Meitinger, Thomas, additional, Strom, Tim M., additional, Danzer, Karin M., additional, Ludolph, Albert C., additional, Andersen, Peter M., additional, Weishaupt, Jochen H., additional, Weyen, Ute, additional, Regensburger, Martin, additional, Winkler, Jürgen, additional, Linker, Ralf, additional, Winner, Beate, additional, Hagenacker, Tim, additional, Koch, Jan Christoph, additional, Lingor, Paul, additional, Göricke, Bettina, additional, Zierz, Stephan, additional, Jordan, Berit, additional, Baum, Petra, additional, Wolf, Joachim, additional, Winkler, Andrea, additional, Young, Peter, additional, Bogdahn, Ulrich, additional, Prudlo, Johannes, additional, and Kassubek, Jan, additional

Published
2020
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176. A large genome scan for rare CNVs in amyotrophic lateral sclerosis

Author

Blauw, Hylke M., Al-Chalabi, Ammar, Andersen, Peter M., van Vught, Paul W.J., Diekstra, Frank P., van Es, Michael A., Saris, Christiaan G.J., Groen, Ewout J.N., van Rheenen, Wouter, Koppers, Max, vanʼt Slot, Ruben, Strengman, Eric, Estrada, Karol, Rivadeneira, Fernando, Hofman, Albert, Uitterlinden, Andre G., Kiemeney, Lambertus A., Vermeulen, Sita H.M., Birve, Anna, Waibel, Stefan, Meyer, Thomas, Cronin, Simon, McLaughlin, Russell L., Hardiman, Orla, Sapp, Peter C., Tobin, Martin D., Wain, Louise V., Tomik, Barbara, Slowik, Agnieszka, Lemmens, Robin, Rujescu, Dan, Schulte, Claudia, Gasser, Thomas, Brown, Robert H., Jr, Landers, John E., Robberecht, Wim, Ludolph, Albert C., Ophoff, Roel A., Veldink, Jan H., and van den Berg, Leonard H.

Published
2010
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178. Phenotypes and malignancy risk of different FUS mutations in genetic amyotrophic lateral sclerosis

Author

Naumann, Marcel, primary, Peikert, Kevin, additional, Günther, Rene, additional, van der Kooi, Anneke J., additional, Aronica, Eleonora, additional, Hübers, Annemarie, additional, Danel, Veronique, additional, Corcia, Philippe, additional, Pan‐Montojo, Francisco, additional, Cirak, Sebahattin, additional, Haliloglu, Göknur, additional, Ludolph, Albert C., additional, Goswami, Anand, additional, Andersen, Peter M., additional, Prudlo, Johannes, additional, Wegner, Florian, additional, Van Damme, Philip, additional, Weishaupt, Jochen H., additional, and Hermann, Andreas, additional

Published
2019
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182. Different neuroinflammatory profile in amyotrophic lateral sclerosis and frontotemporal dementia is linked to the clinical phase

Author

Oeckl, Patrick, Weydt, Patrick, Fassbender, Klaus, Fliessbach, Klaus, Degeneration, German Consortium for Frontotemporal Lobar, Jahn, Holger, Lauer, Martin, Müller, Kathrin, Knehr, Antje, Prudlo, Johannes, Schneider, Anja, Thal, Dietmar R, Steinacker, Petra, Yilmazer-Hanke, Deniz, Weishaupt, Jochen H, Ludolph, Albert C, Otto, Markus, Anderl-Straub, Sarah, Nordin, Frida, Volk, Alexander E, Diehl-Schmid, Janine, Andersen, Peter M, Kornhuber, Johannes, and Danek, Adrian

Subjects
blood [Frontotemporal Dementia], Male, Pathology, amyotrophic lateral sclerosis, Neurology, cerebrospinal fluid [Frontotemporal Dementia], immunology [Amyotrophic Lateral Sclerosis], frontotemporal dementia, neuroinflammation, blood [Amyotrophic Lateral Sclerosis], cerebrospinal fluid [Glial Fibrillary Acidic Protein], chitotriosidase, 0302 clinical medicine, Cerebrospinal fluid, blood [Chitinase-3-Like Protein 1], blood [Glial Fibrillary Acidic Protein], immunology [Hexosaminidases], Amyotrophic lateral sclerosis, GFAP, CHI3L1 protein, human, Middle Aged, Psychiatry and Mental health, Hexosaminidases, Frontotemporal Dementia, Mutation (genetic algorithm), CHIT1, cerebrospinal fluid [Amyotrophic Lateral Sclerosis], Female, medicine.symptom, Frontotemporal dementia, Adult, Heterozygote, medicine.medical_specialty, cerebrospinal fluid [Chitinase-3-Like Protein 1], Asymptomatic, cerebrospinal fluid, 03 medical and health sciences, Glial Fibrillary Acidic Protein, medicine, Humans, ddc:610, Chitinase-3-Like Protein 1, Neuroinflammation, Aged, blood [Hexosaminidases], immunology [Frontotemporal Dementia], GFAP protein, human, business.industry, Amyotrophic Lateral Sclerosis, cerebrospinal fluid [Hexosaminidases], medicine.disease, immunology [Glial Fibrillary Acidic Protein], Case-Control Studies, Asymptomatic Diseases, Mutation, Surgery, Neurology (clinical), business, immunology [Chitinase-3-Like Protein 1], 030217 neurology & neurosurgery
Abstract

ObjectiveTo investigate the role of neuroinflammation in asymptomatic and symptomatic amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) mutation carriers.MethodsThe neuroinflammatory markers chitotriosidase 1 (CHIT1), YKL-40 and glial fibrillary acidic protein (GFAP) were measured in cerebrospinal fluid (CSF) and blood samples from asymptomatic and symptomatic ALS/FTD mutation carriers, sporadic cases and controls by ELISA.ResultsCSF levels of CHIT1, YKL-40 and GFAP were unaffected in asymptomatic mutation carriers (n=16). CHIT1 and YKL-40 were increased in gALS (pConclusionOur data indicate that neuroinflammation is linked to the symptomatic phase of ALS/FTD and shows a similar pattern in sporadic and genetic cases. ALS and FTD are characterised by a different neuroinflammatory profile, which might be one driver of the diverse presentations of the ALS/FTD syndrome.

Published
2019

187. Phenotypes and malignancy risk of different FUS mutations in genetic amyotrophic lateral sclerosis

Author

Naumann, Marcel, Peikert, Kevin, Guenther, Rene, van der Kooi, Anneke J., Aronica, Eleonora, Huebers, Annemarie, Danel, Veronique, Corcia, Philippe, Pan-Montojo, Francisco, Cirak, Sebahattin, Haliloglu, Goeknur, Ludolph, Albert C., Goswami, Anand, Andersen, Peter M., Prudlo, Johannes, Wegner, Florian, Van Damme, Philip, Weishaupt, Jochen H., Hermann, Andreas, Naumann, Marcel, Peikert, Kevin, Guenther, Rene, van der Kooi, Anneke J., Aronica, Eleonora, Huebers, Annemarie, Danel, Veronique, Corcia, Philippe, Pan-Montojo, Francisco, Cirak, Sebahattin, Haliloglu, Goeknur, Ludolph, Albert C., Goswami, Anand, Andersen, Peter M., Prudlo, Johannes, Wegner, Florian, Van Damme, Philip, Weishaupt, Jochen H., and Hermann, Andreas

Abstract

Objective: Mutations in Fused in Sarcoma (FUS or TLS) are the fourth most prevalent in Western European familial amyotrophic lateral sclerosis (ALS) populations and have been associated with causing both early and very late disease onset. FUS aggregation, DNA repair deficiency, and genomic instability are contributors to the pathophysiology of FUS-ALS, but their clinical significance per se and their influence on the clinical variability have yet to be sufficiently investigated. The aim of this study was to analyze genotype-phenotype correlations and malignancy rates in a newly compiled FUS-ALS cohort. Methods: We cross-sectionally reviewed FUS-ALS patient histories in a multicenter cohort with 36 novel cases and did a meta-analysis of published FUS-ALS cases reporting the largest genotype-phenotype correlation of FUS-ALS. Results: The age of onset (median 39 years, range 11-80) was positively correlated with the disease duration. C-terminal domain mutations were found in 90%. Among all, P525L and truncating/ frameshift mutations most frequently caused juvenile onset, rapid disease progression, and atypical ALS often associated with negative family history while the R521 mutation site was associated with late disease onset and pure spinal phenotype. Malignancies were found in one of 40 patients. Interpretation: We report the largest genotype-phenotype correlation of FUS-ALS, which enables a careful prediction of the clinical course in newly diagnosed patients. In this cohort, FUS-ALS patients did not have an increased risk for malignant diseases.

Published
2019
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188. Reply : Adult-onset distal spinal muscular atrophy: a new phenotype associated with KIF5A mutations

Author

Brenner, David, Rosenbohm, Angela, Yilmaz, Ruestem, Mueller, Kathrin, Grehl, Torsten, Petri, Susanne, Meyer, Thomas, Grosskreutz, Julian, Weydt, Patrick, Ruf, Wolfgang, Neuwirth, Christoph, Weber, Markus, Pinto, Susana, Claeys, Kristl G., Schrank, Berthold, Jordan, Berit, Knehr, Antje, Guenther, Kornelia, Huebers, Annemarie, Zeller, Daniel, Kubisch, Christian, Jablonka, Sibylle, Sendtner, Michael, Klopstock, Thomas, de Carvalho, Mamede, Sperfeld, Anne, Borck, Guntram, Volk, Alexander E., Dorst, Johannes, Weis, Joachim, Otto, Markus, Schuster, Joachim, Del Tredici, Kelly, Braak, Heiko, Danzer, Karin M., Freischmidt, Axel, Meitinger, Thomas, Ludolph, Albert C., Andersen, Peter M., Weishaupt, Jochen H., Weyen, Ute, Hermann, Andreas, Winkler, Juergen, Hagenacker, Tim, Koch, Jan Christoph, Lingor, Paul, Goericke, Bettina, Zierz, Stephan, Baum, Petra, Wolf, Joachim, Winkler, Andrea, Young, Peter, Bogdahn, Ulrich, Prudlo, Johannes, Kassubek, Jan, Brenner, David, Rosenbohm, Angela, Yilmaz, Ruestem, Mueller, Kathrin, Grehl, Torsten, Petri, Susanne, Meyer, Thomas, Grosskreutz, Julian, Weydt, Patrick, Ruf, Wolfgang, Neuwirth, Christoph, Weber, Markus, Pinto, Susana, Claeys, Kristl G., Schrank, Berthold, Jordan, Berit, Knehr, Antje, Guenther, Kornelia, Huebers, Annemarie, Zeller, Daniel, Kubisch, Christian, Jablonka, Sibylle, Sendtner, Michael, Klopstock, Thomas, de Carvalho, Mamede, Sperfeld, Anne, Borck, Guntram, Volk, Alexander E., Dorst, Johannes, Weis, Joachim, Otto, Markus, Schuster, Joachim, Del Tredici, Kelly, Braak, Heiko, Danzer, Karin M., Freischmidt, Axel, Meitinger, Thomas, Ludolph, Albert C., Andersen, Peter M., Weishaupt, Jochen H., Weyen, Ute, Hermann, Andreas, Winkler, Juergen, Hagenacker, Tim, Koch, Jan Christoph, Lingor, Paul, Goericke, Bettina, Zierz, Stephan, Baum, Petra, Wolf, Joachim, Winkler, Andrea, Young, Peter, Bogdahn, Ulrich, Prudlo, Johannes, and Kassubek, Jan

Published
2019
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189. Genotypes of amyotrophic lateral sclerosis in Mongolia

Author

Daria, Tselmen, Müller, Kathrin, Oidovdorj, Gansuvd, Baatar, Khandsuren, Boldbaatar, Punsaldulam, Sarangerel, Jambal, Rentsenbat, Munkhbayar, Turbat, Sarantsetseg, Yadamsuren, Erdenechimeg, Weydt, Patrick, Dambasuren, Bolormaa, Bosookhuu, Oyungerel, Banzrai, Chimeglkham, Damchaa, Baasanjav, Pinkhardt, Elmar Hans, Rosenbohm, Angela, Högel, Josef, Andersen, Peter M., Borck, Guntram, Batmunkh, Munkhbat, Ludolph, Albert C., Weishaupt, Jochen H., Daria, Tselmen, Müller, Kathrin, Oidovdorj, Gansuvd, Baatar, Khandsuren, Boldbaatar, Punsaldulam, Sarangerel, Jambal, Rentsenbat, Munkhbayar, Turbat, Sarantsetseg, Yadamsuren, Erdenechimeg, Weydt, Patrick, Dambasuren, Bolormaa, Bosookhuu, Oyungerel, Banzrai, Chimeglkham, Damchaa, Baasanjav, Pinkhardt, Elmar Hans, Rosenbohm, Angela, Högel, Josef, Andersen, Peter M., Borck, Guntram, Batmunkh, Munkhbat, Ludolph, Albert C., and Weishaupt, Jochen H.

Published
2019
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190. Phenotype in an Infant with SOD1 Homozygous Truncating Mutation

Author

Andersen, Peter M., Hempel, Maja, Santer, René, Nordström, Ulrika, Tsiakas, Konstantinos, Johannsen, Jessika, Volk, Alexander E., Bierhals, Tatjana, Zetterström, Per, Marklund, Stefan L., Andersen, Peter M., Hempel, Maja, Santer, René, Nordström, Ulrika, Tsiakas, Konstantinos, Johannsen, Jessika, Volk, Alexander E., Bierhals, Tatjana, Zetterström, Per, and Marklund, Stefan L.

Published
2019
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191. Neurofilaments in pre-symptomatic ALS and the impact of genotype

Author

Benatar, Michael, Wuu, Joanne, Lombardi, Vittoria, Jeromin, Andreas, Bowser, Robert, Andersen, Peter M., Malaspina, Andrea, Benatar, Michael, Wuu, Joanne, Lombardi, Vittoria, Jeromin, Andreas, Bowser, Robert, Andersen, Peter M., and Malaspina, Andrea

Abstract

Objective. To evaluate serum and cerebrospinal fluid (CSF) levels of phosphorylated neurofilament heavy (pNfH), and to compare these to levels of neurofilament light (NfL), as biomarkers of pre-symptomatic ALS. Design. The study population includes 34 controls, 79 individuals at-risk for ALS, 22 ALS patients, and 14 phenoconverters. At-risk individuals are enrolled through Pre-Symptomatic Familial ALS (Pre-fALS), a longitudinal natural history and biomarker study of individuals who are carriers of any ALS-associated gene mutation, but who demonstrate no clinical evidence of disease at the time of enrollment. pNfH and NfL in serum and CSF were quantified using established enzyme-linked immunosorbent assays. Results. There is a longitudinal increase in serum pNfH in advance of the emergence of clinically manifest ALS. A similar pattern is observed for NfL, but with the absolute levels also frequently exceeding a normative threshold. Although CSF data are more sparse, similar patterns are observed for both neurofilaments, with absolute levels exceeding a normative threshold prior to phenoconversion. In serum, these changes are observed in the 6-12 months prior to disease among SOD1 A4V mutation carriers, and as far back as 2 and 3.5 years, respectively, in individuals with a FUS c.521del6 mutation and a C9ORF72 hexanucleotide repeat expansion. Conclusions. Serum and CSF pNfH increase prior to phenoconversion. In CSF, the temporal course of these changes is similar to NfL. In serum, however, pNfH is less sensitive to pre-symptomatic disease than NfL. The duration of pre-symptomatic disease, as defined by changes in neurofilaments, may vary depending on underlying genotype.

Published
2019
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193. Influence of Environment and Lifestyle on Incidence and Progress of Amyotrophic Lateral Sclerosis in A German ALS Population

Author

Korner, Sonja, Kammeyer, Johanna, Zapf, Antonia, Kuzma-Kozakiewicz, Magdalena, Piotrkiewicz, Maria, Kuraszkiewicz, Boienna, Goszczynska, Hanna, Gromicho, Marta, Grosskreutz, Julian, Andersen, Peter M., de Carvalho, Mamede, Petri, Susanne, Korner, Sonja, Kammeyer, Johanna, Zapf, Antonia, Kuzma-Kozakiewicz, Magdalena, Piotrkiewicz, Maria, Kuraszkiewicz, Boienna, Goszczynska, Hanna, Gromicho, Marta, Grosskreutz, Julian, Andersen, Peter M., de Carvalho, Mamede, and Petri, Susanne

Abstract

Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease mainly affecting upper and lower motor neurons in the brain and spinal cord. Pathogenesis of ALS is still unclear, and a multifactorial etiology is presumed. The remarkable clinical heterogeneity between different phenotypes of ALS patients suggests that environmental and lifestyle factors could play a role in onset and progression of ALS. We analyzed a cohort of 117 ALS patients and 93 controls. ALS patients and controls were compared regarding physical activity, dietary habits, smoking, residential environment, potentially toxic environmental factors and profession before symptom onset and throughout the disease course. Data were collected by a personal interview. For statistical analysis descriptive statistics, statistical tests and analysis of variance were used. ALS patients and controls did not differ regarding smoking, diet and extent of physical training. No higher frequency of toxic influences could be detected in the ALS group. ALS patients lived in rural environment considerably more often than the control persons, but this was not associated with a higher percentage of occupation in agriculture. There was also a higher percentage of university graduates in the ALS group. Patients with bulbar onset were considerably more often born in an urban environment as compared to spinal onset. Apart from education and environment, ALS phenotypes did not differ in any investigated environmental or life-style factor. The rate of disease progression was not influenced by any of the investigated environmental and life-style factors. The present study could not identify any dietary habit, smoking, physical activity, occupational factor as well as toxic influences as risk factor or protective factor for onset or progression of ALS. Living in rural environment and higher education might be associated with higher incidence of ALS.

Published
2019
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194. C9orf72 expansion is associated with accelerated decline of respiratory function and decreased survival in amyotrophic lateral sclerosis

Author

Miltenberger-Miltenyi, Gabriel, Conceicao, Vasco A., Gromicho, Marta, Pronto-Laborinho, Ana Catarina, Pinto, Susana, Andersen, Peter M., de Carvalho, Mamede, Miltenberger-Miltenyi, Gabriel, Conceicao, Vasco A., Gromicho, Marta, Pronto-Laborinho, Ana Catarina, Pinto, Susana, Andersen, Peter M., and de Carvalho, Mamede

Published
2019
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197. Cognitive deficits in ALS patients with <italic>SOD1</italic> mutations.

Author

Winroth, Ivar, Börjesson, Arne, Andersen, Peter M., and Karlsson, Thomas

Subjects
*CLINICAL drug trials, *AMYOTROPHIC lateral sclerosis, *NEUROPSYCHOLOGICAL tests, *SHORT-term memory, *COGNITION
Abstract

ObjectiveMethodsResultsConclusionCognitive decline is common in patients with amyotrophic lateral sclerosis (ALS), especially in carriers of the mutation C9ORF72HRE. However, cognitive impairment is poorly understood in carriers of mutations in other genes causing ALS. We performed a comprehensive neuropsychological testing in patients with mutations in the SOD1 (mSOD1) gene.We examined 5 cognitive domains in 48 symptomatic patients with either hereditary or sporadic ALS. These were compared with 37 matched controls.Carriers of SOD1-mutations and sporadic ALS had circumscribed deficits, but in a pattern different from C9ORF72HRE. All groups had deficits in working memory, although mSOD1-carriers significantly outperform sporadic ALS and C9ORF72HRE in an attention-driven visuospatial task involving copying a complex figure. Carriers of the D90A-SOD1 mutation overall performed as well as or better than carriers of other SOD1-mutations, except complex working memory. Bayesian analyses suggest (with evidence of moderate strength) that tasks involving the language domain did not differ between controls, mSOD1 and sporadic ALS.Distinct cognitive impairments are prevalent in different ALS-syndromes and vary in patients with different pathogenic SOD1 mutations. The type and degree of impairment differed depending on genotype and was significantly least pronounced in patients homozygous for the D90A SOD1 mutation. The presence of cognitive deficits may influence optimal clinical management and intervention. We propose that cognitive assessment should be included in the routine examination of new patients suspected of ALS. Neuropsychological assessment is an under-recognized outcome parameter in clinical drug trials. [ABSTRACT FROM AUTHOR]

Published
2024
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