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51. Stroke induces disease-specific myeloid cells in the brain parenchyma and pia

Author

Beuker, Carolin, Schafflick, David, Strecker, Jan-Kolja, Heming, Michael, Li, Xiaolin, Wolbert, Jolien, Schmidt-Pogoda, Antje, Thomas, Christian, Kuhlmann, Tanja, Aranda-Pardos, Irene, A-Gonzalez, Noelia, Kumar, Praveen Ashok, Werner, Yves, Kilic, Ertugrul, Hermann, Dirk M., Wiendl, Heinz, Stumm, Ralf, Hörste, Gerd Meyer zu, and Minnerup, Jens

Published
2022
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53. Cladribine treatment improves cortical network functionality in a mouse model of autoimmune encephalomyelitis

Author

Schroeter, Christina B., Rolfes, Leoni, Gothan, K. S. Sophie, Gruchot, Joel, Herrmann, Alexander M., Bock, Stefanie, Fazio, Luca, Henes, Antonia, Narayanan, Venu, Pfeuffer, Steffen, Nelke, Christopher, Räuber, Saskia, Huntemann, Niklas, Duarte-Silva, Eduardo, Dobelmann, Vera, Hundehege, Petra, Wiendl, Heinz, Raba, Katharina, Küry, Patrick, Kremer, David, Ruck, Tobias, Müntefering, Thomas, Budde, Thomas, Cerina, Manuela, and Meuth, Sven G.

Published
2022
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54. Independent risk factors for myasthenic crisis and disease exacerbation in a retrospective cohort of myasthenia gravis patients

Author

Nelke, Christopher, Stascheit, Frauke, Eckert, Carmen, Pawlitzki, Marc, Schroeter, Christina B., Huntemann, Niklas, Mergenthaler, Philipp, Arat, Ercan, Öztürk, Menekse, Foell, Dirk, Schreiber, Stefanie, Vielhaber, Stefan, Gassa, Asmae, Stetefeld, Henning, Schroeter, Michael, Berger, Benjamin, Totzeck, Andreas, Hagenacker, Tim, Meuth, Sven G., Meisel, Andreas, Wiendl, Heinz, and Ruck, Tobias

Published
2022
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57. Serum neurofilament light chain for individual prognostication of disease activity in people with multiple sclerosis: a retrospective modelling and validation study

Author

Aeschbacher, Stefanie, Barakovic, Muhamed, Buser, Andreas, Chan, Andrew, Disanto, Giulio, D'Souza, Marcus, Du Pasquier, Renaud, Findling, Oliver, Galbusera, Riccardo, Hrusovsky, Kevin, Khalil, Michael, Lorscheider, Johannes, Mathias, Amandine, Orleth, Annette, Radue, Ernst-Wilhelm, Rahmanzadeh, Reza, Sinnecker, Tim, Subramaniam, Suvitha, Vehoff, Jochen, Wellmann, Sven, Wuerfel, Jens, Zecca, Chiara, Benkert, Pascal, Meier, Stephanie, Schaedelin, Sabine, Manouchehrinia, Ali, Yaldizli, Özgür, Maceski, Aleksandra, Oechtering, Johanna, Achtnichts, Lutz, Conen, David, Derfuss, Tobias, Lalive, Patrice H, Mueller, Christian, Müller, Stefanie, Naegelin, Yvonne, Oksenberg, Jorge R, Pot, Caroline, Salmen, Anke, Willemse, Eline, Kockum, Ingrid, Blennow, Kaj, Zetterberg, Henrik, Gobbi, Claudio, Kappos, Ludwig, Wiendl, Heinz, Berger, Klaus, Sormani, Maria Pia, Granziera, Cristina, Piehl, Fredrik, Leppert, David, and Kuhle, Jens

Published
2022
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58. Patient Preference for Subcutaneous Versus Intravenous Administration with Every-6-Week Natalizumab (Tysabri®) Dosing: NOVA Phase IIIb Extension Study (Part 2).

Author

Wiendl, Heinz, Foley, John, Defer, Gilles, Zhovtis Ryerson, Lana, Cohen, Jeffrey A., Arnold, Douglas L., Butzkueven, Helmut, Cutter, Gary R., Giovannoni, Gavin, Killestein, Joep, Domingo-Horne, Rose, Toukam, Marie, Nunn, Aimie, Maghzi, Amir-Hadi, Kuhelj, Robert, and Lasky, Tyler

Subjects
*PATIENT preferences, *INTRAVENOUS therapy, *NATALIZUMAB, *MULTIPLE sclerosis, *PHARMACOLOGY
Abstract

Introduction: Following NOVA (part 1) and the approval of the subcutaneous (SC) route of administration of natalizumab by the European Medicines Agency, an extension phase of the NOVA phase IIIb study (part 2) was initiated to collect patient preference data for SC versus intravenous (IV) dosing in patients receiving every-6-week (Q6W) dosing of natalizumab. This study was performed to evaluate patient preference for SC versus IV natalizumab administration and explore the efficacy, safety, and pharmacology characteristics of both routes of administration. Methods: In part 2, participants received natalizumab (Tysabri®) 300 mg via IV infusion Q6W for 36 weeks and then were randomized to 48 weeks of crossover treatment (24 weeks SC Q6W and 24 weeks IV Q6W, or vice versa). The primary endpoint was the proportion of participants who indicated a preference for natalizumab SC administration on the Patient Preference Questionnaire. Results: A total of 153 participants were randomized in NOVA part 2. Of 123 with patient preference data, 108 (87.8%) preferred the SC route of administration for natalizumab over the IV route; 102 (82.9%) specified "requires less time in the clinic" as the reason for the SC preference. Conclusion: In NOVA (part 2), most participants on Q6W dosing of natalizumab preferred SC administration versus IV administration. ClinicalTrials.gov: NCT03689972. Infographic: [ABSTRACT FROM AUTHOR]

Published
2024
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59. Prognostic factors for worsening and improvement in multiple sclerosis using a multistate model.

Author

Ocampo, Alex, Hatami, Farhad, Čuklina, Jelena, Graham, Gordon, Ganjgahi, Habib, Sun, Yang, Su, Wendy, Mousseau, Marie-Catherine, Gardiner, Stephen, Pendleton, Samantha C, Aarden, Piet, Kieseier, Bernd C, Arnold, Douglas L, Bermel, Robert A, Häring, Dieter A, Nichols, Thomas E, and Wiendl, Heinz

Subjects
BRAIN damage, PROGNOSIS, DATABASES, MULTIPLE sclerosis, DISABILITIES
Abstract

Background: The long-term disease trajectory of people living with multiple sclerosis (MS) can be improved by initiating efficacious treatment early. More quantitative evidence is needed on factors that affect a patient's risk of disability worsening or possibility of improvement to inform timely treatment decisions. Methods: We developed a multistate model to quantify the influence of demographic, clinical, and imaging factors on disability worsening and disability improvement simultaneously across the disability spectrum as measured by the Expanded Disability Status Scale (EDSS). We used clinical trial data from the Novartis–Oxford MS database including ~130,000 EDSS assessments from ~8000 patients, spanning all MS phenotypes. Results: Higher brain volume was positively associated with disability improvement at all disability levels (hazard ratio (HR) = 1.09–1.19; 95% credible interval (CI) = 1.02–1.27). Higher T2 lesion volume was negatively associated with disability improvement up to EDSS 6 (HR = 0.80–0.89; 95% CI = 0.75–0.94). Older age, time since first symptoms, and the number of relapses in the past year were confirmed as predictors of future disability worsening. Conclusions: Brain damage was identified as the most consistent factor limiting the patient's probability for improvements from the earliest stages and across the whole course of MS. Protecting brain integrity early in MS should have greater weight in clinical decision-making. [ABSTRACT FROM AUTHOR]

Published
2024
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60. Cytomegalovirus immune responses are associated with lower serum NfL and disability accumulation risk at multiple sclerosis onset.

Author

Lünemann, Jan D, Sao Avilés, Augusto, Tintoré, Mar, Midaglia, Luciana, Fissolo, Nicolás, Gutiérrez, Lucía, Wiendl, Heinz, Montalban, Xavier, and Comabella, Manuel

Subjects
CYTOMEGALOVIRUS diseases, CENTRAL nervous system diseases, EPSTEIN-Barr virus diseases, CEREBROSPINAL fluid, MULTIPLE sclerosis, CENTRAL nervous system injuries
Abstract

Background: Infection by cytomegalovirus (HCMV) and Epstein–Barr virus (EBV) play a prognostic role in multiple sclerosis (MS). Objectives: To explore whether humoral immune responses to HCMV and EBV at disease onset were associated with changes in serum and cerebrospinal fluid (CSF) levels of inflammatory and neurodegeneration biomarkers. Methods: Ninety-eight MS patients with a median follow-up of 20 years were included in the study. The levels of a panel of nine biomarkers were measured in serum (N = 60) and CSF (N = 61) samples of patients at the time of the first demyelinating event. Results: Immune responses to HCMV inversely correlated with serum neurofilament light chain (sNfL) levels (rho = −0.367; p = 0.039). sNfL levels were reduced in patients with high immune responses to HCMV (p = 0.006). Elevated sNfL levels were associated with higher risk of Expanded Disability Status Scale (EDSS) 3.0 (p = 0.016), 4.0 (p = 0.009) and 6.0 (p = 0.003), and with higher risk of developing secondary progressive MS (p = 0.003) and to receive treatment (p = 0.032). Serum soluble CD21 levels were increased in patients with high immune responses to EBV nuclear antigen 1 (p = 0.020). Conclusions: High immune responses to HCMV are associated with limited disease progression and central nervous system (CNS) injury in MS patients. These findings reinforce the protective role of HCMV infection in MS. [ABSTRACT FROM AUTHOR]

Published
2024
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61. Case report: Clinical, genetic and immunological characterization of a novel XK variant in a patient with McLeod syndrome.

Author

Dambietz, Christine Anna, Doescher, Andrea, Heming, Michael, Schirmacher, Anja, Schlüter, Bernhard, Schulte-Mecklenbeck, Andrea, Thomas, Christian, Wiendl, Heinz, Meyer zu Hörste, Gerd, and Wiethoff, Sarah

Subjects
FRAMESHIFT mutation, GENE expression, BLOOD groups, GENETIC variation, RNA, CEREBROSPINAL fluid examination, X chromosome
Abstract

Introduction: Pathogenic variants in the XK gene are associated with dysfunction or loss of XK protein leading to McLeod syndrome (MLS), a rare X-linked neuroacanthocytosis syndrome with multisystemic manifestation. Here we present clinical, genetic and immunological data on a patient originally admitted to our clinic for presumed post-COVID-19 syndrome, where thorough clinical work-up revealed a novel frameshift deletion in XK causal for the underlying phenotype. We additionally review the clinicogenetic spectrum of reported McLeod cases in the literature. Methods: We performed in-depth clinical characterization and flow cytometry of cerebrospinal fluid (CSF) in a patient where multi-gene panel sequencing identified a novel hemizygous frameshift deletion in XK. Additionally, Kell (K) and Cellano (k) antigen expression was analysed by Fluorescence-activated Cell Sorting (FACS). KEL gene expression was examined by RNA sequencing. Results: A novel hemizygous frameshift deletion in the XK gene resulting in premature termination of the amino acid chain was identified in a 46-year old male presenting with decrease in physical performance and persisting fatigue after COVID-19 infection. Examinations showed raised creatine kinase (CK) levels, neuropathy and clinical features of myopathy. FACS revealed the K-k+ blood type and reduced Cellano density. CSF flow cytometry showed elevation of activated T Cells. Conclusion: In-depth clinical, genetic, immunological and ribonucleic acid (RNA) expression data revealed axonal neuropathy, myopathy and raised levels of activated CSF-T-lymphocytes in a patient with a previously unpublished frameshift deletion in the XK gene. [ABSTRACT FROM AUTHOR]

Published
2024
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63. Sunlight exposure exerts immunomodulatory effects to reduce multiple sclerosis severity

Author

German Competence Network Multiple Sclerosis (KKNMS) and the BIONAT Network, Ostkamp, Patrick, Salmen, Anke, Pignolet, Béatrice, Görlich, Dennis, Andlauer, Till F. M., Schulte-Mecklenbeck, Andreas, Gonzalez-Escamilla, Gabriel, Bucciarelli, Florence, Gennero, Isabelle, Breuer, Johanna, Antony, Gisela, Schneider-Hohendorf, Tilman, Mykicki, Nadine, Bayas, Antonios, Bergh, Florian Then, Bittner, Stefan, Hartung, Hans-Peter, Friese, Manuel A., Linker, Ralf A., Luessi, Felix, Lehmann-Horn, Klaus, Mühlau, Mark, Paul, Friedemann, Stangel, Martin, Tackenberg, Björn, Tumani, Hayrettin, Warnke, Clemens, Weber, Frank, Wildemann, Brigitte, Zettl, Uwe K., Ziemann, Ulf, Müller-Myhsok, Bertram, Kümpfel, Tania, Klotz, Luisa, Meuth, Sven G., Zipp, Frauke, Hemmer, Bernhard, Hohlfeld, Reinhard, Brassat, David, Gold, Ralf, Gross, Catharina C., Lukas, Carsten, Groppa, Sergiu, Loser, Karin, Wiendl, Heinz, and Schwab, Nicholas

Published
2021

64. K2P18.1 translates T cell receptor signals into thymic regulatory T cell development

Author

Ruck, Tobias, Bock, Stefanie, Pfeuffer, Steffen, Schroeter, Christina B., Cengiz, Derya, Marciniak, Paul, Lindner, Maren, Herrmann, Alexander, Liebmann, Marie, Kovac, Stjepana, Gola, Lukas, Rolfes, Leoni, Pawlitzki, Marc, Opel, Nils, Hahn, Tim, Dannlowski, Udo, Pap, Thomas, Luessi, Felix, Schreiber, Julian A., Wünsch, Bernhard, Kuhlmann, Tanja, Seebohm, Guiscard, Tackenberg, Björn, Seja, Patricia, Döring, Frank, Wischmeyer, Erhard, Chasan, Achmet Imam, Roth, Johannes, Klotz, Luisa, Meyer zu Hörste, Gerd, Wiendl, Heinz, Marschall, Tobias, Floess, Stefan, Huehn, Jochen, Budde, Thomas, Bopp, Tobias, Bittner, Stefan, and Meuth, Sven G.

Published
2022
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69. Sex bias in MHC I-associated shaping of the adaptive immune system.

Author

Schneider-Hohendorf, Tilman, Görlich, Dennis, Savola, Paula, Kelkka, Tiina, Mustjoki, Satu, Gross, Catharina, Owens, Geoffrey, Klotz, Luisa, Dornmair, Klaus, Wiendl, Heinz, and Schwab, Nicholas

Subjects
T cell receptor repertoire, autoimmunity, immunological sex bias, multiple sclerosis, rheumatoid arthritis, Adaptive Immunity, Adult, Female, Genes, MHC Class I, Humans, Male, Sex Factors
Abstract

HLA associations, T cell receptor (TCR) repertoire bias, and sex bias have independently been shown for many diseases. While some immunological differences between the sexes have been described, they do not fully explain bias in men toward many infections/cancers, and toward women in autoimmunity. Next-generation TCR variable beta chain (TCRBV) immunosequencing of 824 individuals was evaluated in a multiparametric analysis including HLA-A -B/MHC class I background, TCRBV usage, sex, age, ethnicity, and TCRBV selection/expansion dynamics. We found that HLA-associated shaping of TCRBV usage differed between the sexes. Furthermore, certain TCRBVs were selected and expanded in unison. Correlations between these TCRBV relationships and biochemical similarities in HLA-binding positions were different in CD8 T cells of patients with autoimmune diseases (multiple sclerosis and rheumatoid arthritis) compared with healthy controls. Within patients, men showed higher TCRBV relationship Spearmans rhos in relation to HLA-binding position similarities compared with women. In line with this, CD8 T cells of men with autoimmune diseases also showed higher degrees of TCRBV perturbation compared with women. Concerted selection and expansion of CD8 T cells in patients with autoimmune diseases, but especially in men, appears to be less dependent on high HLA-binding similarity than in CD4 T cells. These findings are consistent with studies attributing autoimmunity to processes of epitope spreading and expansion of low-avidity T cell clones and may have further implications for the interpretation of pathogenic mechanisms of infectious and autoimmune diseases with known HLA associations. Reanalysis of some HLA association studies, separating the data by sex, could be informative.

Published
2018

70. Functional Signature of LRP4 Antibodies in Myasthenia Gravis

Author

Chuquisana, Omar, primary, Stascheit, Frauke, additional, Keller, Christian W., additional, Pučić-Baković, Maja, additional, Patenaude, Anne-Marie, additional, Lauc, Gordan, additional, Tzartos, Socrates, additional, Wiendl, Heinz, additional, Willcox, Nick, additional, Meisel, Andreas, additional, and Lünemann, Jan D., additional

Published
2024
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71. Prognostic Value of Serum Neurofilament Light Chain for Disease Activity in Patients with Relapsing Multiple Sclerosis: Results from Subgroup Analysis Based on Body Mass Index and Age from the Phase 3 ASCLEPIOS I/II Trials (P6-6.011)

Author

Cross, Anne, primary, Ziemssen, Tjalf, additional, Arnold, Douglas, additional, Thouvenot, Eric, additional, Zamvil, Scott, additional, Bhatt, Alit, additional, Wei, Wenjia, additional, Boer, Ibolya, additional, Alvarez, Enrique, additional, and Wiendl, Heinz, additional

Published
2024
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72. The Bruton’s Tyrosine Kinase Inhibitor Remibrutinib Exhibits No Impact on Serum Immunoglobulin Levels: Insights from Chronic Spontaneous Urticaria (P10-6.018)

Author

Bermel, Robert, primary, Carr, Warner, additional, Chitnis, Tanuja, additional, Dörner, Thomas, additional, Hayama, Koremasa, additional, Hide, Michihiro, additional, Maurer, Marcus, additional, Montalban, Xavier, additional, Sussman, Gordon, additional, Wiendl, Heinz, additional, Dahale, Swapnil, additional, DeLasHeras, Virginia, additional, Haemmerle, Sibylle, additional, Kieseier, Bernd, additional, Lheritier, Karine, additional, Zharkov, Artem, additional, Willi, Roman, additional, and Giménez-Arnau, Ana, additional

Published
2024
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73. Prognostic Value of On-treatment Serum Neurofilament Light Chain for New or Enlarging T2 Lesions in People with Relapsing Multiple Sclerosis: Pooled Analysis of the ASCLEPIOS I/II Trials (S42.003)

Author

Leist, Thomas, primary, Hauser, Stephen, additional, Derfuss, Tobias, additional, Wiendl, Heinz, additional, Arnold, Douglas, additional, Montalban, Xavier, additional, Bhatt, Alit, additional, Wei, Wenjia, additional, Boer, Ibolya, additional, Alvarez, Enrique, additional, and Ziemssen, Tjalf, additional

Published
2024
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74. Longer-term Safety and Efficacy of Ofatumumab in People with Relapsing Multiple Sclerosis for Up to 6 Years (P9-6.010)

Author

Wiendl, Heinz, primary, Hauser, Stephen, additional, Nicholas, Jacqueline, additional, De Seze, Jerome, additional, Meuth, Sven, additional, Giacomini, Paul, additional, Robertson, Derrick, additional, Wray, Sibyl, additional, Bhatt, Alit, additional, Hu, Xixi, additional, Fu, Haoyi, additional, Jehl, Valentine, additional, Sullivan, Roseanne, additional, Boer, Ibolya, additional, Cohen, Jeffrey, additional, and Kappos, Ludwig, additional

Published
2024
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75. Safety of Remibrutinib Across Immune-mediated Diseases Supports Development in Multiple Sclerosis (P8-6.015)

Author

Kieseier, Bernd, primary, Montalban, Xavier, additional, Williams, Mitzi, additional, Airas, Laura, additional, Saini, Sarbjit, additional, Hide, Michihiro, additional, Sussman, Gordon, additional, Nakahara, Jin, additional, Bermel, Robert, additional, Doerner, Thomas, additional, Loop, Brett, additional, DeLasHeras, Virginia, additional, Willi, Roman, additional, Haemmerle, Sibylle, additional, Zharkov, Artem, additional, Barbier, Nathalie, additional, Azmon, Amin, additional, Siegel, Richard, additional, Cenni, Bruno, additional, Wiendl, Heinz, additional, Maurer, Marcus, additional, Gimenez-Arnau, Ana, additional, and Chitnis, Tanuja, additional

Published
2024
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76. Outcomes of COVID-19 in Ofatumumab-treated Patients with RMS: Data from the ALITHIOS Open-label Extension Study (P1-6.010)

Author

Boer, Ibolya, primary, Cree, Bruce, additional, Wiendl, Heinz, additional, Cross, Anne, additional, Delgado, Sylvia, additional, Habek, Mario, additional, Khachanova, Natalia, additional, Ward, Brian, additional, Totolyan, Natalia, additional, Mancione, Linda, additional, Sullivan, Roseanne, additional, Zielman, Ronald, additional, Hu, Xixi, additional, Gupta, Ayan Das, additional, Montalban, Xavier, additional, and Winthrop, Kevin, additional

Published
2024
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77. B-Cell Depletion and Efficacy Outcomes of Ofatumumab Are Consistent Across Different Body Mass Index Categories: Insights from ASCLEPIOS I and II Trials (P9-6.002)

Author

Cross, Anne, primary, Hauser, Stephen, additional, Wiendl, Heinz, additional, Bar-Or, Amit, additional, Coyle, Patricia, additional, Montalban, Xavier, additional, De Seze, Jerome, additional, Fu, Haoyi, additional, Bhatt, Alit, additional, Boer, Ibolya, additional, and Kappos, Ludwig, additional

Published
2024
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78. The dilemma of neuroprotection trials in times of successful endovascular recanalization

Author

Schmidt-Pogoda, Antje, primary, Kaesmacher, Johannes, additional, Bonberg, Nadine, additional, Werring, Nils, additional, Strecker, Jan-Kolja, additional, Koecke, Mailin Hannah Marie, additional, Beuker, Carolin, additional, Gralla, Jan, additional, Meier, Raphael, additional, Wiendl, Heinz, additional, Minnerup, Heike, additional, Fischer, Urs, additional, and Minnerup, Jens, additional

Published
2024
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79. Résultats de l’étude d’extension NOVA évaluant la préférence des patients pour l’administration sous-cutanée (SC) versus intraveineuse (IV) de natalizumab (NTZ) avec le schéma Q6W (toutes les 6 semaines)

Author

Wiendl, Heinz, primary, Foley, John, additional, Defer, Gilles, additional, Ryerson, Lana Zhovtis, additional, Cohen, Jeffrey A., additional, Arnold, Douglas, additional, Butzkueven, Helmut, additional, Cutter, Gary, additional, Giovannoni, Gavin, additional, Killestein, Joep, additional, Domingo-Horne, Rose, additional, Toukam, Marie, additional, Nunn, Aimie, additional, Sinks, Susie, additional, Maghzi, Amir-Hadi, additional, Kuhelj, Robert, additional, and Lasky, Tyler, additional

Published
2024
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80. Targeted and optimized multi-channel transcranial direct current stimulation for focal epilepsy: An N-of-1 trial

Author

Antonakakis, Marios, primary, Kaiser, Fabian, additional, Rampp, Stefan, additional, Kovac, Stjepana, additional, Wiendl, Heinz, additional, Stummer, Walter, additional, Gross, Joachim, additional, Kellinghaus, Christoph, additional, Khaleghi-Ghadiri, Maryam, additional, Möddel, Gabriel, additional, and Wolters, Carsten H., additional

Published
2024
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81. Immune signatures of prodromal multiple sclerosis in monozygotic twins

Author

Gerdes, Lisa Ann, Janoschka, Claudia, Eveslage, Maria, Mannig, Bianca, Wirth, Timo, Schulte-Mecklenbeck, Andreas, Lauks, Sarah, Glau, Laura, Gross, Catharina C., Tolosa, Eva, Flierl-Hecht, Andrea, Ertl-Wagner, Birgit, Barkhof, Frederik, Meuth, Sven G., Kümpfel, Tania, Wiendl, Heinz, Hohlfeld, Reinhard, and Klotz, Luisa

Published
2020

85. Single-cell profiling of CNS border compartment leukocytes reveals that B cells and their progenitors reside in non-diseased meninges

Author

Schafflick, David, Wolbert, Jolien, Heming, Michael, Thomas, Christian, Hartlehnert, Maike, Börsch, Anna-Lena, Ricci, Alessio, Martín-Salamanca, Sandra, Li, Xiaolin, Lu, I-Na, Pawlak, Mathias, Minnerup, Jens, Strecker, Jan-Kolja, Seidenbecher, Thomas, Meuth, Sven G., Hidalgo, Andres, Liesz, Arthur, Wiendl, Heinz, and Meyer zu Horste, Gerd

Published
2021
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86. Specific Patterns of Immune Cell Dynamics May Explain the Early Onset and Prolonged Efficacy of Cladribine Tablets: A MAGNIFY-MS Substudy

Author

Wiendl, Heinz, Schmierer, Klaus, Hodgkinson, Suzanne, Derfuss, Tobias, Chan, Andrew, Sellebjerg, Finn, Achiron, Anat, Montalban, Xavier, Prat, Alexandre, De Stefano, Nicola, Barkhof, Frederik, Leocani, Letizia, Vermersch, Patrick, Chudecka, Anita, Mwape, Claire, Holmberg, Kristina H., Boschert, Ursula, and Roy, Sanjeev

Published
2023
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87. Multiple Sklerose Therapie Konsensus Gruppe (MSTKG): Positionspapier zur verlaufsmodifizierenden Therapie der Multiplen Sklerose 2021 (White Paper)

Author

Wiendl, Heinz, Gold, Ralf, Berger, Thomas, Derfuss, Tobias, Linker, Ralf, Mäurer, Mathias, Stangel, Martin, Aktas, Orhan, Baum, Karl, Berghoff, Martin, Bittner, Stefan, Chan, Andrew, Czaplinski, Adam, Deisenhammer, Florian, Di Pauli, Franziska, Du Pasquier, Renaud, Enzinger, Christian, Fertl, Elisabeth, Gass, Achim, Gehring, Klaus, Gobbi, Claudio, Goebels, Norbert, Guger, Michael, Haghikia, Aiden, Hartung, Hans‑Peter, Heidenreich, Fedor, Hoffmann, Olaf, Hunter, Zoë R., Kallmann, Boris, Kleinschnitz, Christoph, Klotz, Luisa, Leussink, Verena, Leutmezer, Fritz, Limmroth, Volker, Lünemann, Jan D., Lutterotti, Andreas, Meuth, Sven G., Meyding-Lamadé, Uta, Platten, Michael, Rieckmann, Peter, Schmidt, Stephan, Tumani, Hayrettin, Weber, Martin S., Weber, Frank, Zettl, Uwe K., Ziemssen, Tjalf, and Zipp, Frauke

Published
2021
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93. [18F]DPA-714-PET-MRI reveals pronounced innate immunity in human anti-LGI1 and anti-CASPR2 limbic encephalitis.

Author

Roll, Wolfgang, Bauer, Jan, Dik, Andre, Mueller, Christoph, Backhaus, Philipp, Räuber, Saskia, Zinnhardt, Bastian, Gallus, Marco, Wimberley, Catriona, Körtvelyessy, Peter, Schindler, Philipp, Stenzel, Werner, Elger, Christian E., Becker, Albert, Lewerenz, Jan, Wiendl, Heinz, Meuth, Sven G., Schäfers, Michael, and Melzer, Nico

Subjects
EPILEPSY, ANTI-NMDA receptor encephalitis, NATURAL immunity, ENCEPHALITIS, SCIENCE education
Abstract

This document, published in the Journal of Neurology, explores the use of [18F]DPA-714-PET-MRI as a diagnostic tool for autoimmune limbic encephalitis (ALE) with specific autoantibodies. The study involved two patients with these autoantibodies, and the results showed increased tracer uptake in certain areas of the brain. The study suggests that [18F]DPA-714-PET-MRI could be a valuable tool for diagnosing ALE and assessing the immune response in the brain. However, further research is needed to fully understand its potential for clinical use in ALE. [Extracted from the article]

Published
2024
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94. SORDD: mutation frequency and phenotype in predominantly axonal Charcot-Marie-Tooth disease of undefined genetic cause.

Author

Arlt, Annabelle, Akova-Öztürk, Esra, Schirmacher, Anja, Schlüter, Bernhard, Rust, Stephan, Meyer zu Hörste, Gerd, Wiendl, Heinz, and Wiethoff, Sarah

Subjects
CHARCOT-Marie-Tooth disease, PHENOTYPES, GENETIC disorders, MOTOR neuron diseases, GENETIC mutation, RECESSIVE genes, SUGAMMADEX, MISSENSE mutation, SORBITOL
Abstract

Pathogenic, biallelic variants in SORD were identified in 2020 as a novel cause for autosomal-recessive Charcot-Marie-Tooth disease (CMT) type 2, an inherited neuropathy. SORD codes for the enzyme sorbitol dehydrogenase. Loss of this enzyme's activity leads to an increase of sorbitol in serum. We retrospectively screened 166 patients with axonal neuropathy (predominantly CMT type 2, but including intermediate form of CMT and distal hereditary motor neuropathy (dHMN)) without identified genetic etiology for SORD mutations at a single large German neuromuscular center. Clinical and electrophysiology exam findings were analyzed for genotype–phenotype correlation. Five patients of the total cohort of 166 patients harbored pathogenic variants in SORD (3%). The homozygous frameshift variant c.757delG (p.Ala253Glnfs*27) was the most common (4/5). One additional case carried this variant on one allele only and an additional pathogenic missense variant c.458C > A (p.Ala153Asp) on the other allele. Age of onset ranged from early infancy to mid-twenties, and phenotypes comprised axonal CMT (4) and dHMN (1). Our findings strengthen the importance of screening for pathogenic variants in SORD, especially in patients with genetically unconfirmed axonal neuropathy, especially CMT type 2 and dHMN. [ABSTRACT FROM AUTHOR]

Published
2024
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