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1. Predicting Outcome in Guillain-Barré Syndrome: International Validation of the Modified Erasmus GBS Outcome Score

Author

Doets, A, Lingsma, H, Walgaard, C, Islam, B, Papri, N, Davidson, A, Yamagishi, Y, Kusunoki, S, Dimachkie, M, Waheed, W, Kolb, N, Islam, Z, Mohammad, Q, Harbo, T, Sindrup, S, Chavada, G, Willison, H, Casasnovas, C, Bateman, K, Miller, J, van den Berg, B, Verboon, C, Roodbol, J, Leonhard, S, Benedetti, L, Kuwabara, S, Van den Bergh, P, Monges, S, Marfia, G, Shahrizaila, N, Galassi, G, Péréon, Y, Bürmann, J, Kuitwaard, K, Kleyweg, R, Marchesoni, C, Sedano Tous, M, Querol, L, Illa, I, Wang, Y, Nobile-Orazio, E, Rinaldi, S, Schenone, A, Pardo, J, Vermeij, F, Lehmann, H, Granit, V, Cavaletti, G, Gutiérrez-Gutiérrez, G, Barroso, F, Visser, L, Katzberg, H, Dardiotis, E, Attarian, S, van der Kooi, A, Eftimov, F, Wirtz, P, Samijn, J, Gilhuis, H, Hadden, R, Holt, J, Sheikh, K, Karafiath, S, Vytopil, M, Antonini, G, Feasby, T, Faber, C, Gijsbers, C, Busby, M, Roberts, R, Silvestri, N, Fazio, R, van Dijk, G, Garssen, M, Straathof, C, Gorson, K, Jacobs, B, Doets, Alex Y, Lingsma, Hester F, Walgaard, Christa, Islam, Badrul, Papri, Nowshin, Davidson, Amy, Yamagishi, Yuko, Kusunoki, Susumu, Dimachkie, Mazen M, Waheed, Waqar, Kolb, Noah, Islam, Zhahirul, Mohammad, Quazi Deen, Harbo, Thomas, Sindrup, Soren H, Chavada, Govindsinh, Willison, Hugh J, Casasnovas, Carlos, Bateman, Kathleen, Miller, James A L, van den Berg, Bianca, Verboon, Christine, Roodbol, Joyce, Leonhard, Sonja E, Benedetti, Luana, Kuwabara, Satoshi, Van den Bergh, Peter, Monges, Soledad, Marfia, Girolama A, Shahrizaila, Nortina, Galassi, Giuliana, Péréon, Yann, Bürmann, Jan, Kuitwaard, Krista, Kleyweg, Ruud P, Marchesoni, Cintia, Sedano Tous, María J, Querol, Luis, Illa, Isabel, Wang, Yuzhong, Nobile-Orazio, Eduardo, Rinaldi, Simon, Schenone, Angelo, Pardo, Julio, Vermeij, Frederique H, Lehmann, Helmar C, Granit, Volkan, Cavaletti, Guido, Gutiérrez-Gutiérrez, Gerardo, Barroso, Fabio A, Visser, Leo H, Katzberg, Hans D, Dardiotis, Efthimios, Attarian, Shahram, van der Kooi, Anneke J, Eftimov, Filip, Wirtz, Paul W, Samijn, Johnny P A, Gilhuis, H Jacobus, Hadden, Robert D M, Holt, James K L, Sheikh, Kazim A, Karafiath, Summer, Vytopil, Michal, Antonini, Giovanni, Feasby, Thomas E, Faber, Catharina G, Gijsbers, Cees J, Busby, Mark, Roberts, Rhys C, Silvestri, Nicholas J, Fazio, Raffaella, van Dijk, Gert W, Garssen, Marcel P J, Straathof, Chiara S M, Gorson, Kenneth C, Jacobs, Bart C, Doets, A, Lingsma, H, Walgaard, C, Islam, B, Papri, N, Davidson, A, Yamagishi, Y, Kusunoki, S, Dimachkie, M, Waheed, W, Kolb, N, Islam, Z, Mohammad, Q, Harbo, T, Sindrup, S, Chavada, G, Willison, H, Casasnovas, C, Bateman, K, Miller, J, van den Berg, B, Verboon, C, Roodbol, J, Leonhard, S, Benedetti, L, Kuwabara, S, Van den Bergh, P, Monges, S, Marfia, G, Shahrizaila, N, Galassi, G, Péréon, Y, Bürmann, J, Kuitwaard, K, Kleyweg, R, Marchesoni, C, Sedano Tous, M, Querol, L, Illa, I, Wang, Y, Nobile-Orazio, E, Rinaldi, S, Schenone, A, Pardo, J, Vermeij, F, Lehmann, H, Granit, V, Cavaletti, G, Gutiérrez-Gutiérrez, G, Barroso, F, Visser, L, Katzberg, H, Dardiotis, E, Attarian, S, van der Kooi, A, Eftimov, F, Wirtz, P, Samijn, J, Gilhuis, H, Hadden, R, Holt, J, Sheikh, K, Karafiath, S, Vytopil, M, Antonini, G, Feasby, T, Faber, C, Gijsbers, C, Busby, M, Roberts, R, Silvestri, N, Fazio, R, van Dijk, G, Garssen, M, Straathof, C, Gorson, K, Jacobs, B, Doets, Alex Y, Lingsma, Hester F, Walgaard, Christa, Islam, Badrul, Papri, Nowshin, Davidson, Amy, Yamagishi, Yuko, Kusunoki, Susumu, Dimachkie, Mazen M, Waheed, Waqar, Kolb, Noah, Islam, Zhahirul, Mohammad, Quazi Deen, Harbo, Thomas, Sindrup, Soren H, Chavada, Govindsinh, Willison, Hugh J, Casasnovas, Carlos, Bateman, Kathleen, Miller, James A L, van den Berg, Bianca, Verboon, Christine, Roodbol, Joyce, Leonhard, Sonja E, Benedetti, Luana, Kuwabara, Satoshi, Van den Bergh, Peter, Monges, Soledad, Marfia, Girolama A, Shahrizaila, Nortina, Galassi, Giuliana, Péréon, Yann, Bürmann, Jan, Kuitwaard, Krista, Kleyweg, Ruud P, Marchesoni, Cintia, Sedano Tous, María J, Querol, Luis, Illa, Isabel, Wang, Yuzhong, Nobile-Orazio, Eduardo, Rinaldi, Simon, Schenone, Angelo, Pardo, Julio, Vermeij, Frederique H, Lehmann, Helmar C, Granit, Volkan, Cavaletti, Guido, Gutiérrez-Gutiérrez, Gerardo, Barroso, Fabio A, Visser, Leo H, Katzberg, Hans D, Dardiotis, Efthimios, Attarian, Shahram, van der Kooi, Anneke J, Eftimov, Filip, Wirtz, Paul W, Samijn, Johnny P A, Gilhuis, H Jacobus, Hadden, Robert D M, Holt, James K L, Sheikh, Kazim A, Karafiath, Summer, Vytopil, Michal, Antonini, Giovanni, Feasby, Thomas E, Faber, Catharina G, Gijsbers, Cees J, Busby, Mark, Roberts, Rhys C, Silvestri, Nicholas J, Fazio, Raffaella, van Dijk, Gert W, Garssen, Marcel P J, Straathof, Chiara S M, Gorson, Kenneth C, and Jacobs, Bart C

Abstract

Background and objectives: The clinical course and outcome of the Guillain-Barré syndrome (GBS) are diverse and vary among regions. The modified Erasmus GBS Outcome Score (mEGOS), developed with data from Dutch patients, is a clinical model that predicts the risk of walking inability in patients with GBS. The study objective was to validate the mEGOS in the International GBS Outcome Study (IGOS) cohort and to improve its performance and region specificity. Methods: We used prospective data from the first 1,500 patients included in IGOS, aged ≥6 years and unable to walk independently. We evaluated whether the mEGOS at entry and week 1 could predict the inability to walk unaided at 4 and 26 weeks in the full cohort and in regional subgroups, using 2 measures for model performance: (1) discrimination: area under the receiver operating characteristic curve (AUC) and (2) calibration: observed vs predicted probability of being unable to walk independently. To improve the model predictions, we recalibrated the model containing the overall mEGOS score, without changing the individual predictive factors. Finally, we assessed the predictive ability of the individual factors. Results: For validation of mEGOS at entry, 809 patients were eligible (Europe/North America [n = 677], Asia [n = 76], other [n = 56]), and 671 for validation of mEGOS at week 1 (Europe/North America [n = 563], Asia [n = 65], other [n = 43]). AUC values were >0.7 in all regional subgroups. In the Europe/North America subgroup, observed outcomes were worse than predicted; in Asia, observed outcomes were better than predicted. Recalibration improved model accuracy and enabled the development of a region-specific version for Europe/North America (mEGOS-Eu/NA). Similar to the original mEGOS, severe limb weakness and higher age were the predominant predictors of poor outcome in the IGOS cohort. Discussion: mEGOS is a validated tool to predict the inability to walk unaided at 4 and 26 weeks in patients with

Published
2022

3. Original research: Second IVIg course in Guillain-Barré syndrome with poor prognosis: the non-randomised ISID study

Author

Verboon, C, van den Berg, B, Cornblath, Dr, Venema, E, Gorson, Kc, Lunn, Mp, Lingsma, H, Van den Bergh, P, Harbo, T, Bateman, K, Pereon, Y, Sindrup, Sh, Kusunoki, S, Miller, J, Islam, Z, Hartung, Hp, Chavada, G, Jacobs, Bc, Hughes, Rac, van Doorn PA, Ajroud-Driss S, IGOS Consortium., Antonini, G, Attarian, S, Barroso, Fa, Benedetti, L, Bertorini, Te, Brannagan, Th, Briani, C, Bhavaraju-Sanka, R, Butterworth, S, Casasnovas, C, Cavaletti, G, Chen, S, Claeys, Kg, Cosgrove, Js, Davidson, A, Dardiotis, E, Dornonville de la Cour, C, Faber, Cg, Feasby, Te, Fujioka, T, Galassi, G, Gilchrist, Jm, Goyal, Na, Granit, V, Gutiérrez-Gutiérrez, G, Hadden, Rdm, Holt, Jkl, Htut, M, Jericó Pascual, I, Karafiath, S, Katzberg, Hd, Kiers, L, Kieseier, Bc, Kimpinski, K, Kuwabara, S, Kwan, Jy, Ladha, Ss, Lawson, V, Lehmann, H, Manji, H, Marfia, Ga, Márquez Infante, C, Mattiazzi, Mg, Mcdermott, Cj, Monges, Ms, Morís de la Tassa, G, Nascimbene, C, Nobile Orazio, E, Nowak, Rj, Osei-Bonsu, M, Pardo Fernandez, J, Querol Gutierrez, L, Reisin, R, Rinaldi, S, Rojas-Marcos, I, Rudnicki, Sa, Schenone, A, Sedano Tous MJ, Shahrizaila, N, Sheikh, K, Silvestri, Nj, Sommer, Cl, Varrato, Jd, Verschuuren, J, Vytopil, Mv, Zhou, L, Bella, Ir, Bunschoten, C, Bürmann, J, Busby, M, Chao, Cc, Conti, Me, Dalakas, Mc, Van Damme, P, Doets, A, van Dijk GW, Dimachkie, Mm, Doppler, K, Echaniz-Laguna, A, Eftimov, F, Fazio, R, Fokke, C, Fulgenzi, Ea, Garssen, Mpj, Gijsbers, Cj, Gilhuis, J, Grapperon, A, Hsieh, St, Illa, I, Islam, B, Jellema, K, Kaida, K, Kokubun, N, Kolb, N, van Koningsveld, R, van der Kooi AJ, Kuitwaard, K, Landschoff Lassen, L, Leonhard, Se, Mandarakas, M, Martinez Hernandez, E, Mohammad, Qd, Pulley, M, Rajabally, Ya, Reddel, Sw, van der Ree, T, Roodbol, J, Sachs, Gm, Samijn, Jpa, Santoro, L, Stein, B, Vermeij, Fh, Visser, Lh, Willison, Hj, Wirtz, P, Zivkovich, Sa., Neurology, Public Health, Immunology, and ANS - Neuroinfection & -inflammation

Subjects
Adult, Male, second IVIg course, Pediatrics, medicine.medical_specialty, Poor prognosis, Time Factors, Guillain-Barre Syndrome, Original research, Drug Administration Schedule, Disease course, Disability Evaluation, 03 medical and health sciences, 0302 clinical medicine, hemic and lymphatic diseases, Clinical endpoint, Humans, Immunologic Factors, Medicine, In patient, Aged, treatment, Guillain-Barre syndrome, business.industry, Immunoglobulins, Intravenous, Middle Aged, poor prognosis, Prognosis, Guillain-Barré syndrome, medicine.disease, Psychiatry and Mental health, Treatment Outcome, Immunoglobulin G, 030220 oncology & carcinogenesis, Female, Surgery, Observational study, Neurology (clinical), business, 030217 neurology & neurosurgery
Abstract

ObjectiveTo compare disease course in patients with Guillain-Barré syndrome (GBS) with a poor prognosis who were treated with one or with two intravenous immunoglobulin (IVIg) courses.MethodsFrom the International GBS Outcome Study, we selected patients whose modified Erasmus GBS Outcome Score at week 1 predicted a poor prognosis. We compared those treated with one IVIg course to those treated with two IVIg courses. The primary endpoint, the GBS disability scale at 4 weeks, was assessed with multivariable ordinal regression.ResultsOf 237 eligible patients, 199 patients received a single IVIg course. Twenty patients received an ‘early’ second IVIg course (1–2 weeks after start of the first IVIg course) and 18 patients a ‘late’ second IVIg course (2–4 weeks after start of IVIg). At baseline and 1 week, those receiving two IVIg courses were more disabled than those receiving one course. Compared with the one course group, the adjusted OR for a better GBS disability score at 4 weeks was 0.70 (95%CI 0.16 to 3.04) for the early group and 0.66 (95%CI 0.18 to 2.50) for the late group. The secondary endpoints were not in favour of a second IVIg course.ConclusionsThis observational study did not show better outcomes after a second IVIg course in GBS with poor prognosis. The study was limited by small numbers and baseline imbalances. Lack of improvement was likely an incentive to start a second IVIg course. A prospective randomised trial is needed to evaluate whether a second IVIg course improves outcome in GBS.

Published
2019
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4. Intravenous immunoglobulin treatment for mild Guillain-Barré syndrome. An international observational study

Author

Verboon, C., Harbo, T., Cornblath, D. R., Hughes, R. A. C., Van Doorn, P. A., Lunn, M. P., Gorson, K. C., Barroso, F., Kuwabara, S., Galassi, G., Lehmann, H. C., Kusunoki, S., Reisin, R. C., Binda, D., Cavaletti, G., Andersen, Jacobs B. C. H., PhD (Aarhus University Hospital, Aarhus, Denmark), Attarian, S., PhD (CHU Timone, Marseille, France), Badrising, U. A., PhD (Leiden University Medical Centre, Leiden, The, Netherlands), Bateman, K., PhD (Groote Schuur Hospital, Cape, Town, South-Africa), Benedetti, L., PhD (Ospedale Sant’ Andrea La Spezia, Spezia, La, Italy), van den Berg, B., MD (Franciscus Gasthuis, Rotterdam, Van den Bergh, P., Luc, PhD (University Clinic St., Leuven, Belgium), Bertorini, T. E., MD (The University of Tennessee Health Science Center (UTHSC), Memphis, USA), Bhavaraju-Sanka, R., MD (University Hospital/ University of Texas Health Science Center, San Antonio Texas, USA), Bianco (Milan University, M., Humanitas Clinicala and Research Institute Milan, Briani, C., MD (University of Padova, Padova, Italy), Bürmann, J., MD (Universitätsklinikum des Saarlandes, Homburg, Germany), Casasnovas, C., Ciberer, PhD (Bellvitge University Hospital - IDIBELL Neurometabolic Diseases Group., Barcelona, Spain), Chao, C. C., PhD (National Taiwan University Hospital, Taipei, Taiwan), Chavada, G., PhD (Glasgow University, Glasgow, UK), Claeys, K. G., University Hospitals Leuven, PhD (1., Leuven, Belgium, KU Leuven, 2., Cosgrove, J. S., MD (Leeds General Infirmary, Leeds, UK), Dalakas, M. C., Thomas Jefferson University, MD (1., Philadelphia, Usa, National and Kapodistrian University of Athens, 2., Athens, Greece), Davidson, A., MD (University of Glasgow, van Dijk, G. W., MD (Canisius Wilhelmina Hospital, Nijmegen, Dardiotis, E., MD (University of Thessaly, Hospital of Larissa, Larissa, Greece), Derejko, M., MD (Odense University Hospital, Odense, Denmark), Dimachkie, M. M., MD (University of Kansas Medical Center, Kansas, City, Dornonville de la Cour, C., MD (National Hospital Copenhagen, Copenhagen, Denmark), Echaniz-Laguna, A., MD (Bicêtre University Hospital, Paris, France), Eftimov, F., PhD (Amsterdam University Medical Centre, Amsterdam, Faber, C. G., PhD (Maastricht University Medical Centre, Maastricht, Fazio, R., MD (Scientific Institute San Raffaele, Milan, Italy), Fulgenzi, J. Fehmi (University of Oxford E. A., MD (Hospital Cesar Milstein Buenos Aires, Buenos, Aires, Argentina), García-Sobrino, T., MD (Hospital Clínico de Santiago, Santiago de Compostela (A Coruña), Spain), Gijsbers, C. J., MD (Vlietland Hospital, Schiedam, Granit, V., MD (Montefiore Medical, Center, New, York, Grisanti, S., MD (Ospedale Sant’ Andrea La Spezia, Gutiérrez-Gutiérrez, G., MD (Hospital Universitario Infanta Sofia, San, Sebastian, Holbech, J. V., PhD (Odense University Hospital, Holt, J. K. L., Phd, FRCP (The Walton Centre, Liverpool, UK), Homedes, C., Ciberer, MD (Bellvitge University Hospital - IDIBELL Neurometabolic Diseases Group., Islam, B., PhD (International Centre for Diarrhoeal Disease Research, Bangladesh, (icddr, Dhaka, b), Bangladesh), Islam, Z., Jahan, I., PhD candidate (International Centre for Diarrhoeal Disease Research, Jericó Pascual, I., PhD (Complejo Hospitalario de Navarra, Pamplona, Spain), Karafiath, S., MD (University of Utah School of Medicine, Salt Lake City, Kerkhoff, H., PhD (Albert Schweitzer Hospital, Dordrecht, Kimpinski, K., MD (University Hospital, Lhsc, London-Ontario, Canada), Kohler, A., MD (Instituto de Investigaciones Neurológicas Raúl Carrea, Fleni, Kolb, N., MD (University of Vermont, Burlington, Vt, Kuitwaard, K., Albert Schweitzer Hospital, PhD (1., Erasmus MC, 2., Kuwahara, M., PhD (Kindai University, Osaka, Japan), Ladha, S. S., MD (Barrow Neurology Clinics, Phoenix, Arizona, Lee Pan, E., MBChB (Groote Schuur Hospital, Marfia, G. A., MD (Neurological Clinic, Policlinico Tor Vergata, Rome, Italy), Magot, A., MD (Reference Centre for NMD, Nantes University Hospital, France), Márquez Infante, C., MD (Hospital Universitario Virgen del Rocio, Seville, Spain), Martín-Aguilar, L., MD (Hospital de la Santa Creu, i Sant Pau, Universitat Autònoma de Barcelona, Martinez Hernandez, E., MD (Institut d’Investigacions Biomèdiques August Pi, i Sunyer (IDIBAPS), Hospital, Clinic, Mataluni, G., PhD (Neurological Clinic, Meekins, G., MD (University of Minnesota, Miller, J. A. L., PhD (Royal Victoria Infirmary, Newcastle, UK), Monges, M. S., Garrahan, MD (Hospital de Pediatría J. P., Nobile Orazio, E., PhD (Milan University, Pardal, A., MD (Hospital Britanico, Pardo Fernandez (Hospital Clínico de Santiago, J., Péréon, Y., PhD (Reference Centre for NMD, Pulley, M., MD (University of Florida, Jacksonville, USA), Querol Gutierrez, L., PhD (Hospital de la Santa Creu, i Sant Pau, Reddel, S. W., PhD (Concord Repatriation General Hospital, Sydney, Australia), van der Ree, T., (Westfriesgasthuis, Md, Hoorn, Rinaldi, S., Mbchb, Samijn, PhD (University of Oxford J. P. A., MD (Maasstad Hospital, Samukawa, M., Santoro, L., PhD (University Federico II, Napels, Italy), Savransky, A., Garrahan, PhD (Hospital de Pediatría J. P., Schwindling, L., Sedano Tous, M. J., MD (Hospital Universitario Marques de Valdecilla, Santander, Cantabria, Sekiguchi, Y., PhD (Chiba University, Chiba, Japan), Shahrizaila, N., MD (Neurology Unit, Department of Medicine, Faculty of Medicine, University of Malaya, Malaya), Silvestri, N. J., Sindrup, MD (Buffalo Jacobs School of Medicine S., Sommer, C. L., MD (Universitätsklinikum Würzburg, Würzburg, Germany), Spyropoulos (Royal Victoria Infirmary, A., Stein, B., Joseph’s Regional Medical Center, MD (St., Paterson, USA), Tan, C. Y., MRCP (Neurology Unit, Tankisi, H., Vermeij, F., Vytopil, M. V., Wirtz, PhD (Tufts University School of Medicine Lahey Hospital P. W., Phd, (HagaZiekenhuis, The, Hague, Waheed, W., MD (University of Vermont Medical Center, Burlington, Addington, USA). Other collaborators were:J. M., MD (University of Virginia, Charlottesville, USA), Ajroud-Driss, S., MD (Northwestern University Feinberg, Chicago, USA), Antonini, G., MD (Mental Health and Sensory Organs (NESMOS), Sapienza, University, Sant’Andrea, Hospital, Bella, I. R., MD (University of Mass Medical School, Worcester, USA), Brannagan, T. H., MD (Columbia University, New York City, Bunschoten, C., PhD candidate (Erasmus University Medical Centre, Busby, M., Bradford, UK), Butterworth, S., MD (Pinderfields Hospital, Wakefield, UK), Conti, M. E., MD (University Hospital Clinicas, Chen, S., Phd, (Rutgers, Robert Wood Johnson University Hospital, New, Brunswick, Doets, A., Feasby, T. E., MD (University of Calgary, Calgary, Canada), Fokke, C., MD (Gelre Hospital, Zutphen and Apeldoorn, Fujioka, T., MD (Toho University Medical Center, Tokyo, Japan), Garssen, M. P. J., PhD (Jeroen Bosch Hospital, Hertogenbosch, ’S, Gilchrist, J. M., MD (Soulthern Illinois University School of Medicine, Springfield, USA), Gilhuis, J., PhD (Reinier de Graaf Gasthuis, Delft, Goldstein, J. M., MD (Yale University School of Medicine, New, Haven, Goyal, N. A., MD (University of California, Irvine, USA), Hadden, R. D. M., PhD (King’s College Hospital, London, UK), Hsieh, S. T., Htut, M., George’s Hospital, MD (St., Illa, I., Jellema, K., PhD (Haaglanden Medisch Centrum, Kaida, K., PhD (National Defense Medical College, Saitama, Japan), Katzberg, H. D., MD (University of Toronto, Toronto, Canada), Kiers, L., MD (University of Melbourne, Royal Melbourne Hospital, Parkville, Australia), Kokubun, N., MD (Dokkyo Medical University, Tochigi, Japan), van Koningsveld, R., PhD (Elkerliek Hospital, Helmond and Deurne, van der Kooi, A. J., Kwan, J. Y., MD (University of Maryland School of Medicine, Baltimore, USA), Landschoff Lassen, L., MD (Glostrup Hospital, Glostrup, Denmark), Lawson, V., MD (Wexner Medical Center at The Ohio State University, Columbus, USA), Leonhard, S. E., Mandarakas, M., PhD (Erasmus University Medical Centre, Manji, H., FRCP (Ipswich Hospital, Ipswich, UK), Mattiazzi, M. G., MD (Hospital Militar Central, Mcdermott, C. J., MD (Royal Hallamshire Hospital, Nihr, Clinical, Sheffield, UK), Mohammad, Q. D., PhD (National Institute of Neurosciences and Hospital, Dhaka, Bangladesh), Morís de la Tassa, G., MD (Hospital UniversitarioCentral de Asturias, Asturias, Spain), Nascimbene, C., PhD (Luigi Sacco Hospital, Niks, E. H., Nowak, R. J., Osei-Bonsu, M., PhD (James Cook University Hospital, Middlesbrough, UK), Pascuzzi, R. M., MD (University of Indiana School of Medicine, Indianapolis, USA), Roberts, R. C., MD (Addenbrooke’s Hospital Cambridge, Cambridge, UK), Rojas-Marcos, I., MD (Hospital Univesitario Reina Sofia, Cordoba, Spain), Roodbol, J., Rudnicki, S. A., MD (University of Arkansas, Fayetteville, USA), Sachs, G. M., MD (University of Rhode Island, Providence, USA), Schenone, A., Department of Neurosciences, PhD (1., Rehabilitation, Ophthalmology, Genetics and Maternal and Infantile Sciences (DINOGMI), University of Genova, Genova, IRCCS Policlinico San Martino, Italy 2., Genova, Italy), Sheikh, K., PhD (The University of Texas Health Science Center at Houston, Houston, USA), Twydell, P., DO (Spectrum Health System, Grand, Rapids, Van Damme, P., PhD (University Hospital Leuven, Varrato, J. D., DO (Lehigh Valley Health Network, Allentown, USA), Visser, L. H., PhD (Elisabeth-TweeSteden Hospital, Tilburg and Waalwijk, Willison, H. J., PhD (University of Glasgow, van Woerkom (Erasmus MC, M., Zhou, L., PhD (Icahn School, Verboon, C, Harbo, T, Cornblath, D, Hughes, R, Van Doorn, P, Lunn, M, Gorson, K, Barroso, F, Kuwabara, S, Galassi, G, Lehmann, H, Kusunoki, S, Reisin, R, Binda, D, Cavaletti, G, Jacobs, B, consortium, IGOS, consortium, GOS, Neurosurgery, Neurology, and Immunology

Subjects
Adult, Male, medicine.medical_specialty, intravenous immunoglobulins, DIAGNOSIS, Guillain-Barre Syndrome, Settore MED/26, DISEASE, Disease course, Disability Evaluation, 03 medical and health sciences, 0302 clinical medicine, SDG 3 - Good Health and Well-being, hemic and lymphatic diseases, Internal medicine, Clinical endpoint, medicine, Humans, In patient, guillain-barré syndrome, 030212 general & internal medicine, NEUROPATHIES, biology, Guillain-Barre syndrome, business.industry, Guillain-Barré syndrome (GBS), treatment, course, Confounding, Immunoglobulins, Intravenous, Middle Aged, medicine.disease, Confidence interval, Psychiatry and Mental health, Treatment Outcome, biology.protein, Female, Surgery, Observational study, Neurology (clinical), Antibody, business, 030217 neurology & neurosurgery
Abstract

ObjectiveTo compare the disease course in patients with mild Guillain-Barré syndrome (GBS) who were treated with intravenous immunoglobulin (IVIg) or supportive care only.MethodsWe selected patients from the prospective observational International GBS Outcome Study (IGOS) who were able to walk independently at study entry (mild GBS), treated with one IVIg course or supportive care. The primary endpoint was the GBS disability score four weeks after study entry, assessed by multivariable ordinal regression analysis.ResultsOf 188 eligible patients, 148 (79%) were treated with IVIg and 40 (21%) with supportive care. The IVIg group was more disabled at baseline. IVIg treatment was not associated with lower GBS disability scores at 4 weeks (adjusted OR (aOR) 1.62, 95% CI 0.63 to 4.13). Nearly all secondary endpoints showed no benefit from IVIg, although the time to regain full muscle strength was shorter (28 vs 56 days, p=0.03) and reported pain at 26 weeks was lower (n=26/121, 22% vs n=12/30, 40%, p=0.04) in the IVIg treated patients. In the subanalysis with persistent mild GBS in the first 2 weeks, the aOR for a lower GBS disability score at 4 weeks was 2.32 (95% CI 0.76 to 7.13). At 1 year, 40% of all patients had residual symptoms.ConclusionIn patients with mild GBS, one course of IVIg did not improve the overall disease course. The certainty of this conclusion is limited by confounding factors, selection bias and wide confidence limits. Residual symptoms were often present after one year, indicating the need for better treatments in mild GBS.

Published
2021
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6. International Guillain-Barré Syndrome Outcome Study

Author

Jacobs, B, van den Berg, B, Verboon, C, Chavada, G, Cornblath, D, Gorson, K, Harbo, T, Hartung, H, Hughes, R, Kusunoki, S, van Doorn, P, Willison, H, Consortium, I, van Woerkom, M, Roodbol, J, Reisin, R, Reddel, S, Islam, Z, Islam, B, Mohammad, Q, van den Bergh, P, Feasby, T, Wang, Y, Péréon, Y, Lehmann, H, Dardiotis, E, Nobile Orazio, E, Shahrizaila, N, Bateman, K, Illa, I, Querol, L, Hsieh, S, Davidson, A, Addington, J, Ajroud Driss, S, Andersen, H, Antonini, G, Attarian, S, Badrising, U, Barroso, F, Benedetti, L, Beronio, A, Bianco, M, Binda, D, Briani, C, Bürmann, J, Bella, I, Bertorini, T, Bhavaraju Sanka, R, Brannagan, T, Busby, M, Butterworth, S, Campagnolo, M, Casasnovas, C, Cavaletti, G, Chao, C, Chen, S, Chetty, S, Claeys, K, Cohen, J, Conti, M, Cosgrove, J, Dalakas, M, Dimachkie, M, Dillmann, U, Domínguez González, C, Doppler, K, Dornonville de la Cour, C, Echaniz Laguna, A, Eftimov, F, Faber, C, Fazio, R, Fokke, C, Fujioka, T, Fulgenzi, E, Galassi, G, Garcia, T, Garnero, M, Garssen, M, Gijsbers, C, Gilchrist, J, Gilhuis, H, Goldstein, J, Goyal, N, Granit, V, Grapperon, A, Gutiérrez Gutiérrez, G, Gutmann, L, Hadden, R, Holbech, J, Holt, J, Homedes Pedret, C, Htut, M, Jellema, K, Jericó Pascual, I, Kaida, K, Karafiath, S, Katzberg, H, Kiers, L, Kieseier, B, Kimpinski, K, Kleyweg, R, Kokubun, N, Kolb, N, Kuitwaard, K, Kuwabara, S, Kwan, J, Ladha, S, Landschoff Lassen, L, Lawson, V, Ledingham, D, Léon Cejas, L, Luciano, C, Lucy, S, Lunn, M, Magot, A, Manji, H, Marchesoni, C, Marfia, Ga, Márquez Infante, C, Martinez Hernandez, E, Mataluni, G, Mattiazi, M, Mcdermott, C, Meekins, G, Miller, J, Monges, M, Montero, M, Morís de la Tassa, G, Nascimbene, C, Neumann, C, Nowak, R, Orizaola Balaguer, P, Osei Bonsu, M, Pan, E, Pardo Fernandez, J, Pasnoor, M, Pulley, M, Rajabally, Y, Rinaldi, S, Ritter, C, Roberts, R, Rojas Marcos, I, Rudnicki, S, Sachs, G, Samijn, J, Santoro, L, Saperstein, D, Savransky, A, Schneider, H, Schenone, A, Sedano Tous, M, Sekiguchi, Y, Sheikh, K, Silvestri, N, Sindrup, S, Sommer, C, Stein, B, Stino, A, Spyropoulos, A, Srinivasan, J, Suzuki, H, Taylor, S, Tankisi, H, Tigner, D, Twydell, P, Valzania, F, van Damme, P, van der Kooi, A, van Dijk, G, van der Ree, T, van Koningsveld, R, Varrato, J, Vermeij, F, Verschuuren, J, Visser, L, Vytopil, M, Waheed, W, Wilken, M, Wilkerson, C, Wirtz, P, Yamagishi, Y, Yiu, E, Zhou, L, Zivkovic, S, Immunology, Neurology, Jacobs, B, van den Berg, B, Verboon, C, Chavada, G, Cornblath, D, Gorson, K, Harbo, T, Hartung, H, Hughes, R, Kusunoki, S, van Doorn, P, Willison, H, van Woerkom, M, Roodbol, J, Reisin, R, Reddel, S, Islam, Z, Islam, B, Mohammad, Q, van den Bergh, P, Feasby, T, Wang, Y, Pã©rã©on, Y, Lehmann, H, Dardiotis, E, Nobile Orazio, E, Shahrizaila, N, Bateman, K, Illa, I, Querol, L, Hsieh, S, Davidson, A, Addington, J, Ajroud Driss, S, Andersen, H, Antonini, G, Attarian, S, Badrising, U, Barroso, F, Benedetti, L, Beronio, A, Bianco, M, Binda, D, Briani, C, Bã¼rmann, J, Bella, I, Bertorini, T, Bhavaraju Sanka, R, Brannagan, T, Busby, M, Butterworth, S, Campagnolo, M, Casasnovas, C, Cavaletti, G, Chao, C, Chen, S, Chetty, S, Claeys, K, Cohen, J, Conti, M, Cosgrove, J, Dalakas, M, Dimachkie, M, Dillmann, U, Domínguez González, C, Doppler, K, Dornonville de la Cour, C, Echaniz Laguna, A, Eftimov, F, Faber, C, Fazio, R, Fokke, C, Fujioka, T, Fulgenzi, E, Galassi, G, Garcia, T, Garnero, M, Garssen, M, Gijsbers, C, Gilchrist, J, Gilhuis, H, Goldstein, J, Goyal, N, Granit, V, Grapperon, A, Gutiérrez Gutiérrez, G, Gutmann, L, Hadden, R, Holbech, J, Holt, J, Homedes Pedret, C, Htut, M, Jellema, K, Jericó Pascual, I, Kaida, K, Karafiath, S, Katzberg, H, Kiers, L, Kieseier, B, Kimpinski, K, Kleyweg, R, Kokubun, N, Kolb, N, Kuitwaard, K, Kuwabara, S, Kwan, J, Ladha, S, Landschoff Lassen, L, Lawson, V, Ledingham, D, Léon Cejas, L, Luciano, C, Lucy, S, Lunn, M, Magot, A, Manji, H, Marchesoni, C, Marfia, G, Márquez Infante, C, Martinez Hernandez, E, Mataluni, G, Mattiazi, M, Mcdermott, C, Meekins, G, Miller, J, Monges, M, Montero, M, Morís de la Tassa, G, Nascimbene, C, Neumann, C, Nowak, R, Orizaola Balaguer, P, Osei Bonsu, M, Pan, E, Pardo Fernandez, J, Pasnoor, M, Pulley, M, Rajabally, Y, Rinaldi, S, Ritter, C, Roberts, R, Rojas Marcos, I, Rudnicki, S, Sachs, G, Samijn, J, Santoro, L, Saperstein, D, Savransky, A, Schneider, H, Schenone, A, Sedano Tous, M, Sekiguchi, Y, Sheikh, K, Silvestri, N, Sindrup, S, Sommer, C, Stein, B, Stino, A, Spyropoulos, A, Srinivasan, J, Suzuki, H, Taylor, S, Tankisi, H, Tigner, D, Twydell, P, Valzania, F, van Damme, P, van der Kooi, A, van Dijk, G, van der Ree, T, van Koningsveld, R, Varrato, J, Vermeij, F, Verschuuren, J, Visser, L, Vytopil, M, Waheed, W, Wilken, M, Wilkerson, C, Wirtz, P, Yamagishi, Y, Yiu, E, Zhou, L, Zivkovic, S, Rehabilitation medicine, Internal medicine, and ANS - Neuroinfection & -inflammation

Subjects
Male, Pediatrics, PROGNOSIS, diagnosis, International Cooperation, Guillain-Barré syndrome, biomarkers, outcome, prognosis, treatment, Guillain-Barre syndrome, Guillain-Barré syndrome, Neuroscience (all), Neurology (clinical), Cohort Studies, 0302 clinical medicine, Epidemiology, Outcome Assessment, Health Care, INFECTION, CRITERIA, 030212 general & internal medicine, General Neuroscience, Biobank, Observational Studies as Topic, diagnosi, Disease Progression, biomarker, Female, Settore MED/26 - Neurologia, medicine.symptom, prognosi, Cohort study, medicine.medical_specialty, Weakness, Guillain-Barre Syndrome, CLASSIFICATION, VALIDATION, 03 medical and health sciences, medicine, Humans, INTRAVENOUS IMMUNOGLOBULIN, Protocol (science), business.industry, Polyradiculoneuropathy, medicine.disease, ANTIBODIES, Observational study, business, COLLECTION, 030217 neurology & neurosurgery
Abstract

Guillain-Barré syndrome (GBS) is an acute polyradiculoneuropathy with a highly variable clinical presentation, course, and outcome. The factors that determine the clinical variation of GBS are poorly understood which complicates the care and treatment of individual patients. The protocol of the ongoing International GBS Outcome Study (IGOS), a prospective, observational, multicenter cohort study that aims to identify the clinical and biological determinants and predictors of disease onset, subtype, course and outcome of GBS is presented here. Patients fulfilling the diagnostic criteria for GBS, regardless of age, disease severity, variant forms, or treatment, can participate if included within 2 weeks after onset of weakness. Information about demography, preceding infections, clinical features, diagnostic findings, treatment, course, and outcome is collected. In addition, cerebrospinal fluid and serial blood samples for serum and DNA is collected at standard time points. The original aim was to include at least 1,000 patients with a follow-up of 1-3 years. Data are collected via a web-based data entry system and stored anonymously. IGOS started in May 2012 and by January 2017 included more than 1,400 participants from 143 active centers in 19 countries across 5 continents. The IGOS data/biobank is available for research projects conducted by expertise groups focusing on specific topics including epidemiology, diagnostic criteria, clinimetrics, electrophysiology, antecedent events, antibodies, genetics, prognostic modeling, treatment effects, and long-term outcome of GBS. The IGOS will help to standardize the international collection of data and biosamples for future research of GBS.

Published
2017
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7. Second IVIg course in Guillain-Barré syndrome with poor prognosis. The non-randomised ISID study

Author

Verboon, C., Van Den Berg, B., Cornblath, D. R., Venema, E., Gorson, K. C., Lunn, M. P., Lingsma, H., Van Den Bergh, P., Harbo, T., Bateman, K., Pereon, Y., Sindrup, So. H., Kusunoki, S., Miller, J., Islam, Z., Hartung, H. -P., Chavada, G., Jacobs, B. C., Hughes, R. A. C., Addington, Van Doorn P. A. J. M., MD (University of Virginia, Charlottesville, USA), on October 7, S. Consortia. Protected by copyright., Downloaded from 8 Verboon C, 2019 at Uppsala Universitet BIBSAM http://jnnp. bmj. com/ J Neurol Neurosurg Psychiatry: first published as 10. 1136/jnnp-2019-321496 on 5 October 2019., J Neurol Neurosurg Psychiatry 2019, et al., 1136/jnnp-2019-321496 Neuromuscular Ajroud-Driss, 0:1–9. doi:10., MD (Northwestern University Feinberg, Chicago, USA), Antonini, G., MD (Mental Health and Sensory Organs (NESMOS), Sapienza, University, Sant’Andrea, Hospital, Rome, Italy), Attarian, S., PhD (CHU Timone, Marseille, France), Barroso, F. A., MD (Instituto de Investigaciones Neurológicas Raúl Carrea, Fleni, Buenos, Aires, Argentina), Benedetti, L., PhD (Ospedale Sant’ Andrea La Spezia, Spezia, La, Italy), Bertorini, T. E., MD (The University of Tennessee Health Science Center (UTHSC), Memphis, USA), Brannagan, T. H., MD (Columbia University, New York City, USA), Briani, C., MD (University of Padova, Padova, Italy), Bhavaraju-Sanka, R., MD (University Hospital/University of Texas Health Science Center, San Antonio Texas, Butterworth, S., MD (Pinderfields Hospital, Wakefield, UK), Casasnovas, C., Ciberer, PhD (Bellvitge University Hospital – IDIBELL Neurometabolic Diseases Group., Barcelona, Spain), Cavaletti, G., MD (University Milano-Bicocca, Monza, Italy), Chen, S., Phd, (Rutgers, Robert Wood Johnson University Hospital, New, Brunswick, Claeys, K. G., University Hospitals Leuven, PhD (1., Leuven, Belgium, KU Leuven, 2., Leuven, Belgium), Cosgrove, J. S., MD (Leeds General Infirmary, Leeds, UK), Davidson, A., MD (University of Glasgow, Glasgow, UK), Dardiotis, E., MD (University of Thessaly, Hospital of Larissa, Larissa, Greece), Dornonville de la Cour, C., MD (National Hospital Copenhagen, Copenhagen, Denmark), Faber, C. G., PhD (Maastricht University Medical Centre, Maastricht, The, Netherlands), Feasby, T. E., MD (University of Calgary, Calgary, Canada), Fujioka, T., MD (Toho University Medical Center, Tokyo, Japan), Galassi, G., MD (University Hospital of Modena, Modena, Italy), Gilchrist, J. M., MD (Soulthern Illinois University School of Medicine, Springfield, USA), Goyal, N. A., MD (University of California, Irvine, USA), Granit, V., MD (Montefiore Medical, Center, New, York, Gutiérrez-Gutiérrez, G., MD (Hospital Universitario Infanta Sofia, San, Sebastian, Spain), Hadden, R. D. M., PhD (King’s College Hospital, London, UK), Holt, J. K. L., Phd, FRCP (The Walton Centre, Liverpool, UK), Htut, M., George’s Hospital, MD (St., Jericó Pascual, I., PhD (Complejo Hospitalario de Navarra, Pamplona, Spain), Karafiath, S., MD (University of Utah School of Medicine, Salt Lake City, Katzberg, H. D., MD (University of Toronto, Toronto, Canada), Kiers, L., MD (University of Melbourne, Royal Melbourne Hospital, Parkville, Australia), Kieseier, B. C., MD (Heinrich Heine University, Düsseldorf, Germany), Kimpinski, K., MD (University Hospital, Lhsc, London-Ontario, Canada), Kuwabara, S., PhD (Chiba University, Chiba, Japan), Kwan, J. Y., MD (University of Maryland School of Medicine, Baltimore, USA), Ladha, S. S., MD (Barrow Neurology Clinics, Phoenix, Arizona, Lawson, V., MD (Wexner Medical Center at The Ohio State University, Columbus, USA), Lehmann, H., PhD (University Hospital of Cologne, Universitätsklinikum, Köln, Cologne, Germany), Manji, H., FRCP (Ipswich Hospital, Ipswich, UK), Marfia, G. A., MD (Neurological Clinic, Policlinico Tor Vergata, Márquez Infante, C., MD (Hospital Universitario Virgen del Rocio, Seville, Spain), Mattiazzi, M. G., MD (Hospital Militar Central, Mcdermott, C. J., MD (Royal Hallamshire Hospital, Nihr, Clinical, Sheffield, UK), Monges, M. S., Garrahan, MD (Hospital de Pediatría J. P., Morís de la Tassa, G., MD (Hospital Universitario Central de Asturias, Asturias, Spain), Nascimbene, C., PhD (Luigi Sacco Hospital, Milan, Italy), Nobile Orazio, E., PhD (Milan University, Humanitas Clinicala and Research Institute Milan, Nowak, R. J., MD (Yale University School of Medicine, New, Haven, Osei-Bonsu (James Cook University Hospital, M., Middlesbrough, UK), Pardo Fernandez (Hospital Clínico de Santiago, J., Santiago de Compostela (A Coruña), Querol Gutierrez, L., PhD (Hospital de la Santa Creu, i Sant Pau, Universitat Autònoma de Barcelona, Reisin (Hospital Britanico, R., Rinaldi, S., Mbchb, Roberts, PhD (University of Oxford R. C., MD (Addenbrooke’s Hospital Cambridge, Cambridge, UK), Rojas-Marcos, I., MD (Hospital Univesitario Reina Sofia, Cordoba, Spain), Rudnicki, S. A., MD (University of Arkansas, Fayetteville, USA), Schenone, A., Department of Neurosciences, PhD (1., Rehabilitation, Ophthalmology, Genetics and Maternal and Infantile Sciences (DINOGMI), University of Genova, Genova, IRCCS Policlinico San Martino, Italy 2., Genova, Italy), Sedano Tous, M. J., MD (Hospital Universitario Marques de Valdecilla, Santander, Cantabria, Shahrizaila, N., MD (Neurology Unit, Department of Medicine, Faculty of Medicine, University of Malaya, Malaya), Sheikh, K., PhD (The University of Texas Health Science Center at Houston, Houston, USA), Silvestri, N. J., MD (Buffalo General Medical Center, Buffalo, Ny, Sommer, C. L., MD (Universitätsklinikum Würzburg, Würzburg, Germany), Varrato, J. D., DO (Lehigh Valley Health Network, Allentown, USA), Verschuuren, J., PhD (Leiden University Medical Centre, Leiden, Vytopil, M. V., Waheed, PhD (Tufts University School of Medicine Lahey Hospital W., MD (University of Vermont Medical Center, Burlington, USA), Zhou, L., PhD (Icahn School of Medicine at Mount Sinai, Badrising, USA). Other collaborators were:U. A., Bella, I. R., MD (University of Mass Medical School, Worcester, USA), Bunschoten, C., PhD candidate (Erasmus University Medical Centre, Rotterdam, Bürmann, J., Universitätsklinikum des Saarlandes, Homburg, Germany), Busby, M., Bradford, UK), Chao, C. C., PhD (National Taiwan University Hospital, Taipei, Taiwan), Conti, M. E., MD (University Hospital Clinicas, Dalakas, M. C., Thomas Jefferson University, MD (1., Philadelphia, Usa, National and Kapodistrian University of Athens, 2., Athens, Greece), Van Damme, P., PhD (University Hospital Leuven, Doets, A., van Dijk, G. W., MD (Canisius Wilhelmina Hospital, Nijmegen, Dimachkie, M. M., MD (University of Kansas Medical Center, Kansas, City, Doppler, K., Echaniz-Laguna, A., MD (Hopital de Hautepierre, Strasbourgh, France), Eftimov, F., PhD (Amsterdam University Medical Centre, Amsterdam, Fazio, R., MD (Scientific Institute San Raffaele, Fokke, C., MD (Gelre Hospital, Zutphen and Apeldoorn, Fulgenzi, E. A., MD (Hospital Cesar Milstein Buenos Aires, Garssen, M. P. J., PhD (Jeroen Bosch Hospital, Hertogenbosch, ’S, Zaltbommel and Drunen, Gijsbers, C. J., MD (Vlietland Hospital, Schiedam, Gilhuis, J., PhD (Reinier de Graaf Gasthuis, Delft, Grapperon, A., MD (CHU Timone, Hsieh, S. T., Illa, I., Islam, B., PhD (International Centre for Diarrhoeal Disease Research, Bangladesh, (icddr, Dhaka, b), Bangladesh), Jellema, K., PhD (Haaglanden Medisch Centrum, The, Hague, Kaida, K., PhD (National Defense Medical College, Saitama, Japan), Kokubun, N., MD (Dokkyo Medical University, Tochigi, Japan), Kolb, N., MD (University of Vermont, Burlington, Vt, van Koningsveld, R., PhD (Elkerliek Hospital, Helmond and Deurne, van der Kooi, A. J., Kuitwaard, K., PhD (Albert Schweitzer Hospital, Dordrecht, Landschoff Lassen, L., MD (Glostrup Hospital, Glostrup, Denmark), Leonhard, S. E., Mandarakas, M., PhD (Erasmus University Medical Centre, Martinez Hernandez, E., MD (Institut d’Investigacions Biomèdiques August Pi, i Sunyer (IDIBAPS), Hospital, Clinic, Mohammad, Q. D., PhD (National Institute of Neurosciences and Hospital, Dhaka, Bangladesh), Pulley, M., MD (University of Florida, Jacksonville, USA), Rajabally, Y. A., PhD (Queen Elizabeth Hospital, Birmingham, UK), Reddel, S. W., PhD (Concord Repatriation General Hospital, Sydney, Australia), van der Ree, T., (Westfriesgasthuis, Md, Hoorn, Roodbol, J., Sachs, G. M., MD (University of Rhode Island, Providence, USA), Samijn, J. P. A., PhD (Maasstad Hospital, Santoro, L., PhD (University Federico II, Napels, Italy), Stein, B., Joseph’s Regional Medical Center, MD (St., Paterson, USA), Vermeij, F. H., MD (Franciscus Gasthuis, Visser, L. H., PhD (Elisabeth-TweeSteden Hospital, Tilburg and Waalwijk, Willison, H. J., PhD (University of Glasgow, Wirtz, P., Phd, (HagaZiekenhuis, Zivkovich, S. A., PhD (University of Pittsburgh Medical Center, and Pittsburgh, USA).

Subjects
treatment, disability evaluation, drug administration schedule, adult, guillain-barré syndrome, poor prognosis, second ivig course, aged, female, guillain-barre syndrome, humans, immunoglobulin g, immunoglobulins, intravenous, immunologic factors, male, middle aged, prognosis, time factors, treatment outcome
Published
2020

10. Regional variation of Guillain-Barré syndrome

Author

Doets, Alex Y., Verboon, Christine, Van Den Berg, Bianca, Harbo, Thomas, Cornblath, David R., Willison, Hugh J., Islam, Zhahirul, Attarian, Shahram, Barroso, Fabio A., Bateman, Kathleen, Benedetti, Luana, Van Den Bergh, Peter, Casasnovas, Carlos, Cavaletti, Guido, Chavada, Govindsinh, Claeys, Kristl G., Dardiotis, Efthimios, Davidson, Amy, Van Doorn, Pieter A., Feasby, Tom E., Galassi, Giuliana, Gorson, Kenneth C., Hartung, Hans-Peter, Hsieh, Sung-Tsang, Hughes, Richard A. C., Illa, Isabel, Islam, Badrul, Kusunoki, Susumu, Kuwabara, Satoshi, Lehmann, Helmar C., Miller, James A. L., Mohammad, Quazi Deen, Monges, Soledad, Nobile Orazio, Eduardo, Pardo, Julio, Pereon, Yann, Rinaldi, Simon, Querol, Luis, Reddel, Stephen W., Reisin, Ricardo C., Shahrizaila, Nortina, Sindrup, Soren H., Waqar, Waheed, Jacobs, Bart C., Jacobs, Bc, Hughes, Rac, Cornblath, Dr, Gorson, Kc, Hartung, Hp, Kusunoki, S, van Doorn PA, Willison, Hj, van Woerkom, M, van den Berg, B, Verboon, C, Doets, Ay, Roodbol, J, Reisin, Rc, Reddel, Sw, Islam, Z, Islam, B, Mohammad, Qd, van den Bergh, P, Feasby, Te, Harbo, T, Péréon, Y, Lehmann, Hc, Dardiotis, E, Nobile-Orazio, E, Shahrizaila, N, Bateman, K, Illa, I, Querol, L, Hsieh, St, Chavada, G, Davidson, A, Addington, Jm, Ajroud-Driss, S, Andersen, H, Antonini, G, Ariatti, A, Attarian, S, Badrising, Ua, Barroso, Fa, Benedetti, L, Beronio, A, Bianco, M, Binda, D, Briani, C, Bunschoten, C, Bürmann, J, Bella, Ir, Bertorini, Te, Bhavaraju-Sanka, R, Brannagan, Th, Busby, M, Butterworth, S, Casasnovas, C, Cavaletti, G, Chao, Cc, Chetty, S, Claeys, Kg, Conti, Me, Cosgrove, Js, Dalakas, Mc, Derejko, Ma, Dimachkie, Mm, Doppler, K, Dornonville de la Cour, C, Echaniz-Laguna, A, Eftimov, F, Faber, Cg, Fazio, R, Fujioka, T, Fulgenzi, Ea, Galassi, G, Garcia-Sobrino, T, Garnero, M, Garssen, Mpj, Gijsbers, Cj, Gilchrist, Jm, Goldstein, Jm, Granit, V, Grapperon, A, Gutiérrez, G, Hadden, Rdm, Holbech, Jv, Holt, Jkl, Homedes Pedret, C, Htut, M, Jericó Pascual, I, Kaida, K, Karafiath, S, Katzberg, Hd, Kiers, L, Kieseier, Bc, Kimpinski, K, Kleyweg, Rp, Kokubun, N, Kolb, Na, Kuitwaard, K, Kuwabara, S, Kwan, Jy, Ladha, Ss, Landschoff Lassen, L, Lawson, V, Ledingham, D, Léon Cejas, L, Lucy, St, Lunn, Mpt, Magot, A, Manji, H, Marchesoni, C, Marfia, Ga, Márquez Infante, C, Martinez Hernandez, E, Mataluni, G, Mcdermott, Cj, Meekins, Gd, Miller, Jal, Monges, Ms, Montero, Mcj, Morís de la Tassa, G, Mozzoni, J, Nascimbene, C, Nowak, Rj, Orizaloa Balaguer, P, Osei-Bonsu, M, Lee Pan EB, Pardo, J, Pasnoor, M, Rajabally, Ya, Rinaldi, S, Ritter, C, Roberts, Rc, Rojas-Marcos, I, Rudnicki, Sa, Ruiz, M, Sachs, Gm, Samijn, Jpa, Santoro, L, Schenone, A, Schwindling, L, Sedano Tous MJ, Sekiguchi, Y, Sheikh, Ka, Silvestri, Nj, Sindrup, Sh, Sommer, Cl, Stein, B, Stino, Am, Spyropoulos, A, Srinivasan, J, Suzuki, H, Tankisi, H, Tigner, D, Twydell, Pt, van Damme, P, van der Kooi AJ, van Dijk GW, van der Ree, T, van Koningsveld, R, Varrato, Jd, Vermeij, Fh, Visser, Lh, Vytopil, Mv, Waheed, W, Wilken, M, Wilkerson, C, Wirtz, Pw, Yamagishi, Y, Zhou, L, Zivkovic, S., Doets, A, Verboon, C, van den Berg, B, Harbo, T, Cornblath, D, Willison, H, Islam, Z, Attarian, S, Barroso, F, Bateman, K, Benedetti, L, van den Bergh, P, Casasnovas, C, Cavaletti, G, Chavada, G, Claeys, K, Dardiotis, E, Davidson, A, van Doorn, P, Feasby, T, Galassi, G, Gorson, K, Hartung, H, Hsieh, S, Hughes, R, Illa, I, Islam, B, Kusunoki, S, Kuwabara, S, Lehmann, H, Miller, J, Mohammad, Q, Monges, S, Nobile Orazio, E, Pardo, J, Pereon, Y, Rinaldi, S, Querol, L, Reddel, S, Reisin, R, Shahrizaila, N, Sindrup, S, Waqar, W, Jacobs, B, Neurology, AII - Infectious diseases, AII - Inflammatory diseases, ANS - Neuroinfection & -inflammation, Immunology, UCL - SSS/IONS/NEUR - Clinical Neuroscience, and UCL - (SLuc) Service de neurologie

Subjects
Adult, Male, medicine.medical_specialty, Adolescent, clinical course, Guillain-Barre Syndrome, 03 medical and health sciences, Young Adult, 0302 clinical medicine, axonal degeneration, demyelination, outcome, polyradiculoneuropathy, Internal medicine, Severity of illness, medicine, Humans, 030212 general & internal medicine, Young adult, Child, Geographic difference, Aged, Aged, 80 and over, Guillain-Barre syndrome, Polyradiculoneuropathy, Overlap syndrome, Middle Aged, medicine.disease, Regional variation, Child, Preschool, neurology, Settore MED/26 - Neurologia, Female, Neurology (clinical), 030217 neurology & neurosurgery, Cohort study, polyradiculoneuropathy, demyelination, axonal degeneration, clinical course, outcome
Abstract

Guillain-Barré syndrome is a heterogeneous disorder regarding the clinical presentation, electrophysiological subtype and outcome. Previous single country reports indicate that Guillain-Barré syndrome may differ among regions, but no systematic comparative studies have been conducted. Comparative studies are required to identify factors determining disease susceptibility, variation and prognosis, and to improve diagnostic criteria. The International Guillain-Barré Syndrome Outcome Study is a prospective, observational cohort study including all patients within the diagnostic spectrum, aiming to describe the heterogeneity of Guillain-Barré syndrome worldwide. The current study was based on the first 1000 inclusions with a follow-up of at least 1 year and confirmed the variation in clinical presentation, course and outcome between patients. The full clinical spectrum of Guillain-Barré syndrome was observed in patients from all countries participating in the International Guillain-Barré Syndrome Outcome Study, but the frequency of variants differed between regions. We compared three regions based on geography, income and previous reports of Guillain-Barré syndrome subtypes: 'Europe/Americas', 'Asia' (without Bangladesh), and 'Bangladesh'. We excluded 75 (8%) patients because of alternative diagnoses, protocol violations, or missing data. The predominant clinical variant was sensorimotor in Europe/Americas (n = 387/562, 69%) and Asia (n = 27/63, 43%), and pure motor in Bangladesh (n = 74/107, 69%). Miller Fisher syndrome and Miller Fisher-Guillain-Barré overlap syndrome were more common in Asia (n = 14/63, 22%) than in the other two regions (Europe/Americas: n = 64/562, 11%; Bangladesh: n = 1/107, 1%) (P < 0.001). The predominant electrophysiological subtype was demyelinating in all regions (Europe/Americas: n = 312/573, 55%; Asia: n = 29/65, 45%; Bangladesh: n = 38/94, 40%). The axonal subtype occurred more often in Bangladesh (n = 34/94, 36%) than in Europe/Americas (n = 33/573, 6%) and other Asian countries (n = 4/65, 6%) (P < 0.001). In all regions, patients with the axonal subtype were younger, had fewer sensory deficits, and showed a trend towards poorer recovery compared to patients with the demyelinating subtype. The proportion of patients able to walk unaided after 1 year varied between Asia (n = 31/34, 91%), Europe/Americas (n = 334/404, 83%) and Bangladesh (n = 67/97, 69%) (P = 0.003). A similar variation was seen for mortality, being higher in Bangladesh (n = 19/114, 17%) than in Europe/Americas (n = 23/486, 5%) and Asia (n = 1/45, 2%) (P < 0.001). This study showed that factors related to geography have a major influence on clinical phenotype, disease severity, electrophysiological subtype, and outcome of Guillain-Barré syndrome.

Published
2018
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12. International Guillain-Barré Syndrome Outcome Study: protocol of a prospective observational cohort study on clinical and biological predictors of disease course and outcome in Guillain-Barré syndrome

Author

Jacobs, B.C. (Bart C.), Berg, B. (Bianca) van den, Verboon, C. (Christine), Chavada, G. (Govindsinh), Cornblath, D.R. (David), Gorson, K.C. (Kenneth), Harbo, T. (Thomas), Hartung, H.P., Hughes, R.A.C. (Richard A. C.), Kusunoki, S. (Susumu), Doorn, P.A. (Pieter) van, Willison, H.J. (Hugh J.), Jacobs, B.C. (Bart), Hughes, R.A.C. (Richard), Cornblath, D.R., Gorson, K.C., Kusunoki, S., Willison, H.J. (Hugh), van Woerkom, M., van den Berg, B., Verboon, C., Roodbol, J. (J.), Reisin, R. (R.), Reddel, S.W., Islam, Z. (Zhahirul), Islam, B., Mohammad, Q.D. (Quazi), Bergh, P.Y.K. (Paul) van den, Feasby, T.E., Wang, Y.Z., Harbo, T., Péréon, Y., Lehmann, H.C., Dardiotis, E., Nobile-Orazio, E. (Eduarde), Shahrizaila, N., Jacobs, B.C., Bateman, K., Illa, I. (Isabel), Querol, L. (Luis), Hsieh, S.T., Willison, H.J., Chavada, G., Davidson, A., Addington, J.M., Ajroud-Driss, S., Andersen, H., Antonini, G., Attarian, S., Badrising, U.A. (Umesh), Barroso, F.A., Benedetti, L., Beronio, A., Bianco, M., Binda, D., Briani, C., Bürmann, J., Bella, I.R., Bertorini, T.E., Bhavaraju-Sanka, R., Brannagan, T.H., Busby, M., Butterworth, S., Campagnolo, M., Casasnovas, C., Cavaletti, G., Chao, C.S., Chen, S., Chetty, S., Claeys, T. (Tine), Cohen, J.A., Conti, M.E., Cosgrove, J.S., Dalakas, M.C. (Marinos), Dimachkie, M.M., Dillmann, U., Domínguez González, C., Doppler, K., Dornonville de la Cour, C., Echaniz-Laguna, A., Eftimov, F. (Filip), Faber, C.G., Fazio, R. (R.), Fokke, M. (Maureen), Fujioka, T., Fulgenzi, E. (E.), Galassi, G., Garcia, T., Garnero, M., Garssen, M.P.J. (Marcel), Gijsbers, C.J., Gilchrist, J.M., Gilhuis, J. (Job), Goldstein, J.M., Goyal, N., Granit, V., Grapperon, A., Gutiérrez Gutiérrez, G., Gutmann, L., Hadden, R.D.M. (Rob), Holbech, J.V., Holt, J.K.L., Homedes Pedret, C., Htut, M., Jellema, K., Jericó Pascual, I., Kaida, K.I. (Ken Ichi), Karafiath, S., Katzberg, H. (Hans), Kiers, H.A.L. (Henk), Kieseier, B.C. (Bernd), Kimpinski, K., Kleyweg, R.P., Kokubun, N., Kolb, N.A., Kuitwaard, K. (Krista), Kuwabara, S., Kwan, J.Y., Ladha, S.S., Landschoff Lassen, L., Lawson, V., Ledingham, D., Léon Cejas, L., Luciano, C.A., Lucy, S.T., Lunn, M.P.T. (Michael P. T.), Magot, A., Manji, H., Marchesoni, A., Marfia, G.A.M., Márquez Infante, C., Martinez Hernandez, E., Mataluni, G., Mattiazi, M., McDermott, C.J., Meekins, G.D., Miller, J., Monges, M.S., Montero, M.C.J., Morís de la Tassa, G., Nascimbene, C., Neumann, C., Nowak, R.J., Orizaola Balaguer, P., Osei-Bonsu, M., Pan, E.B.L., Pardo Fernandez, J., Pasnoor, M., Pulley, M.T., Rajabally, Y.A., Rinaldi, S. (Sabina), Ritter, C., Roberts, R.C., Rojas-Marcos, I., Rudnicki, S.A., Sachs, G.M., Samijn, J.P. (Johnny), Santoro, L., Saperstein, D.S., Savransky, A., Schneider, H., Schenone, A. (Andrea), Sedano Tous, M.J., Sekiguchi, Y., Sheikh, K.A., Silvestri, N.J., Sindrup, S.H., Sommer, C., Stein, B., Stino, A.M., Spyropoulos, A., Srinivasan, J., Suzuki, H., Taylor, S.W., Tankisi, H., Tigner, D., Twydell, P.T., Valzania, F., van Damme, P., Kooj, A.J. (Anneke), Dijk, G.W. (Gert) van, van der Ree, T., Koningsveld, R. (Rinske) van, Varrato, J.D., Vermeij, F.H. (Frederique), Verschuuren, J.J. (Jan), Visser, L.H. (Leendert), Vytopil, M.V., Waheed, W., Wilken, M., Wilkerson, C., Wirtz, P.W., Yamagishi, Y., Yiu, E.M., Zhou, L., Zivkovic, S.A. (Sasa), Jacobs, B.C. (Bart C.), Berg, B. (Bianca) van den, Verboon, C. (Christine), Chavada, G. (Govindsinh), Cornblath, D.R. (David), Gorson, K.C. (Kenneth), Harbo, T. (Thomas), Hartung, H.P., Hughes, R.A.C. (Richard A. C.), Kusunoki, S. (Susumu), Doorn, P.A. (Pieter) van, Willison, H.J. (Hugh J.), Jacobs, B.C. (Bart), Hughes, R.A.C. (Richard), Cornblath, D.R., Gorson, K.C., Kusunoki, S., Willison, H.J. (Hugh), van Woerkom, M., van den Berg, B., Verboon, C., Roodbol, J. (J.), Reisin, R. (R.), Reddel, S.W., Islam, Z. (Zhahirul), Islam, B., Mohammad, Q.D. (Quazi), Bergh, P.Y.K. (Paul) van den, Feasby, T.E., Wang, Y.Z., Harbo, T., Péréon, Y., Lehmann, H.C., Dardiotis, E., Nobile-Orazio, E. (Eduarde), Shahrizaila, N., Jacobs, B.C., Bateman, K., Illa, I. (Isabel), Querol, L. (Luis), Hsieh, S.T., Willison, H.J., Chavada, G., Davidson, A., Addington, J.M., Ajroud-Driss, S., Andersen, H., Antonini, G., Attarian, S., Badrising, U.A. (Umesh), Barroso, F.A., Benedetti, L., Beronio, A., Bianco, M., Binda, D., Briani, C., Bürmann, J., Bella, I.R., Bertorini, T.E., Bhavaraju-Sanka, R., Brannagan, T.H., Busby, M., Butterworth, S., Campagnolo, M., Casasnovas, C., Cavaletti, G., Chao, C.S., Chen, S., Chetty, S., Claeys, T. (Tine), Cohen, J.A., Conti, M.E., Cosgrove, J.S., Dalakas, M.C. (Marinos), Dimachkie, M.M., Dillmann, U., Domínguez González, C., Doppler, K., Dornonville de la Cour, C., Echaniz-Laguna, A., Eftimov, F. (Filip), Faber, C.G., Fazio, R. (R.), Fokke, M. (Maureen), Fujioka, T., Fulgenzi, E. (E.), Galassi, G., Garcia, T., Garnero, M., Garssen, M.P.J. (Marcel), Gijsbers, C.J., Gilchrist, J.M., Gilhuis, J. (Job), Goldstein, J.M., Goyal, N., Granit, V., Grapperon, A., Gutiérrez Gutiérrez, G., Gutmann, L., Hadden, R.D.M. (Rob), Holbech, J.V., Holt, J.K.L., Homedes Pedret, C., Htut, M., Jellema, K., Jericó Pascual, I., Kaida, K.I. (Ken Ichi), Karafiath, S., Katzberg, H. (Hans), Kiers, H.A.L. (Henk), Kieseier, B.C. (Bernd), Kimpinski, K., Kleyweg, R.P., Kokubun, N., Kolb, N.A., Kuitwaard, K. (Krista), Kuwabara, S., Kwan, J.Y., Ladha, S.S., Landschoff Lassen, L., Lawson, V., Ledingham, D., Léon Cejas, L., Luciano, C.A., Lucy, S.T., Lunn, M.P.T. (Michael P. T.), Magot, A., Manji, H., Marchesoni, A., Marfia, G.A.M., Márquez Infante, C., Martinez Hernandez, E., Mataluni, G., Mattiazi, M., McDermott, C.J., Meekins, G.D., Miller, J., Monges, M.S., Montero, M.C.J., Morís de la Tassa, G., Nascimbene, C., Neumann, C., Nowak, R.J., Orizaola Balaguer, P., Osei-Bonsu, M., Pan, E.B.L., Pardo Fernandez, J., Pasnoor, M., Pulley, M.T., Rajabally, Y.A., Rinaldi, S. (Sabina), Ritter, C., Roberts, R.C., Rojas-Marcos, I., Rudnicki, S.A., Sachs, G.M., Samijn, J.P. (Johnny), Santoro, L., Saperstein, D.S., Savransky, A., Schneider, H., Schenone, A. (Andrea), Sedano Tous, M.J., Sekiguchi, Y., Sheikh, K.A., Silvestri, N.J., Sindrup, S.H., Sommer, C., Stein, B., Stino, A.M., Spyropoulos, A., Srinivasan, J., Suzuki, H., Taylor, S.W., Tankisi, H., Tigner, D., Twydell, P.T., Valzania, F., van Damme, P., Kooj, A.J. (Anneke), Dijk, G.W. (Gert) van, van der Ree, T., Koningsveld, R. (Rinske) van, Varrato, J.D., Vermeij, F.H. (Frederique), Verschuuren, J.J. (Jan), Visser, L.H. (Leendert), Vytopil, M.V., Waheed, W., Wilken, M., Wilkerson, C., Wirtz, P.W., Yamagishi, Y., Yiu, E.M., Zhou, L., and Zivkovic, S.A. (Sasa)

Abstract

Guillain-Barré syndrome (GBS) is an acute polyradiculoneuropathy with a highly variable clinical presentation, course, and outcome. The factors that determine the clinical variation of GBS are poorly understood which complicates the care and treatment of individual patients. The protocol of the ongoing International GBS Outcome Study (IGOS), a prospective, observational, multicenter cohort study that aims to identify the clinical and biological determinants and predictors of disease onset, subtype, course and outcome of GBS is presented here. Patients fulfilling the diagnostic criteria for GBS, regardless of age, disease severity, variant forms, or treatment, can participate if included within 2 weeks after onset of weakness. Information about demography, preceding infections, clinical features, diagnostic findings, treatment, course, and outcome is collected. In addition, cerebrospinal fluid and serial blood samples for serum and DNA is collected at standard time points. The original aim was to include at least 1,000 patients with a follow-up of 1–3 years. Data are collected via a web-based data entry system and stored anonymously. IGOS started in May 2012 and by January 2017 included more than 1,400 participants from 143 active centers in 19 countries across 5 continents. The IGOS data/biobank is available for research projects conducted by expertise groups focusing on specific topics including epidemiology, diagnostic criteria, clinimetrics, electrophysiology, antecedent events, antibodies, genetics, prognostic modeling, treatment effects, and long-term outcome of GBS. The IGOS will help to standardize the international collection of data and biosamples for future research of GBS.

Published
2017
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14. Facial emotion recognition in Parkinson’s disease: Association with age and olfaction.

Author

Kalampokini, S., Lyros, E., Luley, M., Schöpe, J., Spiegel, J., Bürmann, J., Dillmann, U., Fassbender, K., and Unger, M. M

Subjects
PARKINSON'S disease, FACE perception, EMOTION recognition, PSYCHOLOGICAL aspects of aging, SMELL disorders, NEUROPSYCHOLOGICAL tests
Abstract

Objective: The ability to recognize facial emotion expressions has been reported to be impaired in Parkinson’s disease (PD), yet previous studies showed inconsistent findings. The aim of this study was to further investigate facial emotion recognition (FER) in PD patients and its association with demographic and clinical parameters (including motor and nonmotor symptoms).Method: Thirty-four nondemented PD patients and 24 age- and sex-matched healthy controls (HC) underwent clinical neurological and neuropsychological assessment, standardized olfactory testing with Sniffin’ Sticks, and the Ekman 60 Faces Emotion Recognition Test.Results: PD patients had a significantly lower score on the total FER task than HC (p = .006), even after controlling for the potential confounding factors depression and apathy. The PD group had a specific impairment in the recognition of surprise (p = .007). The recognition of anger approached statistical significance (p = .07). Increasing chronological age and age at disease onset were associated with worse performance on the FER task in PD patients. Olfactory function along with PD diagnosis predicted worse FER performance within all study participants.Conclusion: Facial emotion recognition and especially the recognition of surprise are significantly impaired in PD patients compared with age- and sex-matched HC. The association of FER with age and olfactory function is endorsed by common structures that undergo neurodegeneration in PD. The relevance of FER in social interaction stresses the clinical relevance and the need for further investigation in this field. Future studies should also determine whether impaired FER is already present in premotor stages of PD. [ABSTRACT FROM AUTHOR]

Published
2018
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18. Effects of S906T polymorphism on the severity of a novel borderline mutation I692M in Na v1.4 cause periodic paralysis.

Author

Fan, C., Mao, N., Lehmann‐Horn, F., Bürmann, J., and Jurkat‐Rott, K.

Subjects
HYPERKALEMIC periodic paralysis, GENETIC mutation, ELECTROPHYSIOLOGY, GENETIC polymorphisms, SODIUM channels
Abstract

Hyperkalemic periodic paralysis ( HyperPP) is a dominantly inherited muscle disease caused by mutations in SCN4A gene encoding skeletal muscle voltage gated Na v1.4 channels. We identified a novel Na v1.4 mutation I692M in 14 families out of the 104 genetically identified HyperPP families in the Neuromuscular Centre Ulm and is therefore as frequent as I693T (13 families out of 14 HyperPP families) in Germany. Surprisingly, in 13 families, a known polymorphism S906T was also present. It was on the affected allele in at least 10 families compatible with a possible founder effect in central Europe. All affected members suffered from episodic weakness; myotonia was also common. Compared with I692M patients, I692M-S906T patients had longer weakness episodes, more affected muscles, CK elevation and presence of permanent weakness. Electrophysiological investigation showed that both mutants had incomplete slow inactivation and a hyperpolarizing shift of activation which contribute to membrane depolarization and weakness. Additionally, I692M-S906T significantly enhanced close-state fast inactivation compared with I692M alone, suggesting a higher proportion of inactivated I692M-S906T channels upon membrane depolarization which may facilitate the initiation of weakness episodes and therefore clinical manifestation. Our results suggest that polymorphism S906T has effects on the clinical phenotypic and electrophysiological severity of a novel borderline Na v1.4 mutation I692M, making the borderline mutation fully penetrant. [ABSTRACT FROM AUTHOR]

Published
2017
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19. A.P.3

Author

Semmler, A.L., primary, Sacconi, S., additional, Bach, J.E., additional, Liebe, C., additional, Bürmann, J., additional, Kley, R.A., additional, Ferbert, A., additional, Anderheiden, R., additional, Van den Bergh, P., additional, Martin, J.J., additional, Jonghe, P. De, additional, Neuen-Jacob, E., additional, Müller, O., additional, Deschauer, M., additional, Bergmann, M., additional, Schröder, J.M., additional, Vorgerd, M., additional, Schulz, J.B., additional, Weis, J., additional, Kress, W., additional, and Claeys, K.G., additional

Published
2014
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25. Atypischer Verlauf einer Myositis

Author

Bürmann, J., primary, Zimmer, V., additional, Walter, S., additional, Dillmann, U., additional, Rentz, K., additional, Schneider, G., additional, Schmitt, K., additional, Feiden, S., additional, and Fassbender, K., additional

Published
2011
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34. Predicting Outcome in Guillain-Barre Syndrome International Validation of the Modified Erasmus GBS Outcome Score

Author

Doets, A.Y., Lingsma, H.F., Walgaard, C., Islam, B., Papri, N., Davidson, A., Yamagishi, Y., Kusunoki, S., Dimachkie, M.M., Waheed, W., Kolb, N., Islam, Z., Mohammad, Q.D., Harbo, T., Sindrup, S.H., Chavada, G., Willison, H.J., Casasnovas, C., Bateman, K., Miller, J.A.L., Berg, B. van den, Verboon, C., Roodbol, J., Leonhard, S.E., Benedetti, L., Kuwabara, S., Bergh, P. van den, Monges, S., Marfia, G.A., Shahrizaila, N., Galassi, G., Pereon, Y., Burmann, J., Kuitwaard, K., Kleyweg, R.P., Marchesoni, C., Tous, M.J.S., Querol, L., Illa, I., Wang, Y.Z., Nobile-Orazio, E., Rinaldi, S., Schenone, A., Pardo, J., Vermeij, F.H., Lehmann, H.C., Granit, V., Cavaletti, G., Gutierrez-Gutierrez, G., Barroso, F.A., Visser, L.H., Katzberg, H.D., Dardiotis, E., Attarian, S., Kooi, A.J. van der, Eftimov, F., Wirtz, P.W., Samijn, J.P.A., Gilhuis, H.J., Hadden, R.D.M., Holt, J.K.L., Sheikh, K.A., Karafiath, S., Vytopil, M., Antonini, G., Feasby, T.E., Faber, C.G., Gijsbers, C.J., Busby, M., Roberts, R.C., Silvestri, N.J., Fazio, R., Dijk, G.W. van, Garssen, M.P.J., Straathof, C.S.M., Gorson, K.C., Jacobs, B.C., IGOS Consortium, Neurology, ANS - Neuroinfection & -inflammation, EURO-NMD, Klinische Neurowetenschappen, MUMC+: MA Med Staf Spec Neurologie (9), RS: MHeNs - R1 - Cognitive Neuropsychiatry and Clinical Neuroscience, Doets, A, Lingsma, H, Walgaard, C, Islam, B, Papri, N, Davidson, A, Yamagishi, Y, Kusunoki, S, Dimachkie, M, Waheed, W, Kolb, N, Islam, Z, Mohammad, Q, Harbo, T, Sindrup, S, Chavada, G, Willison, H, Casasnovas, C, Bateman, K, Miller, J, van den Berg, B, Verboon, C, Roodbol, J, Leonhard, S, Benedetti, L, Kuwabara, S, Van den Bergh, P, Monges, S, Marfia, G, Shahrizaila, N, Galassi, G, Péréon, Y, Bürmann, J, Kuitwaard, K, Kleyweg, R, Marchesoni, C, Sedano Tous, M, Querol, L, Illa, I, Wang, Y, Nobile-Orazio, E, Rinaldi, S, Schenone, A, Pardo, J, Vermeij, F, Lehmann, H, Granit, V, Cavaletti, G, Gutiérrez-Gutiérrez, G, Barroso, F, Visser, L, Katzberg, H, Dardiotis, E, Attarian, S, van der Kooi, A, Eftimov, F, Wirtz, P, Samijn, J, Gilhuis, H, Hadden, R, Holt, J, Sheikh, K, Karafiath, S, Vytopil, M, Antonini, G, Feasby, T, Faber, C, Gijsbers, C, Busby, M, Roberts, R, Silvestri, N, Fazio, R, van Dijk, G, Garssen, M, Straathof, C, Gorson, K, Jacobs, B, Public Health, and Immunology

Subjects
Guillain-Barrè, predicting, outcome, IGOS, MODELS, Guillain-Barre Syndrome, Prognosis, Settore MED/26, Cohort Studies, POOR-PROGNOSIS, Outcome Assessment, Health Care, Humans, INTRAVENOUS IMMUNOGLOBULIN, Neurology (clinical), Prospective Studies, Child, Research Article
Abstract

Background and ObjectivesThe clinical course and outcome of the Guillain-Barré syndrome (GBS) are diverse and vary among regions. The modified Erasmus GBS Outcome Score (mEGOS), developed with data from Dutch patients, is a clinical model that predicts the risk of walking inability in patients with GBS. The study objective was to validate the mEGOS in the International GBS Outcome Study (IGOS) cohort and to improve its performance and region specificity.MethodsWe used prospective data from the first 1,500 patients included in IGOS, aged ≥6 years and unable to walk independently. We evaluated whether the mEGOS at entry and week 1 could predict the inability to walk unaided at 4 and 26 weeks in the full cohort and in regional subgroups, using 2 measures for model performance: (1) discrimination: area under the receiver operating characteristic curve (AUC) and (2) calibration: observed vs predicted probability of being unable to walk independently. To improve the model predictions, we recalibrated the model containing the overall mEGOS score, without changing the individual predictive factors. Finally, we assessed the predictive ability of the individual factors.ResultsFor validation of mEGOS at entry, 809 patients were eligible (Europe/North America [n = 677], Asia [n = 76], other [n = 56]), and 671 for validation of mEGOS at week 1 (Europe/North America [n = 563], Asia [n = 65], other [n = 43]). AUC values were >0.7 in all regional subgroups. In the Europe/North America subgroup, observed outcomes were worse than predicted; in Asia, observed outcomes were better than predicted. Recalibration improved model accuracy and enabled the development of a region-specific version for Europe/North America (mEGOS-Eu/NA). Similar to the original mEGOS, severe limb weakness and higher age were the predominant predictors of poor outcome in the IGOS cohort.DiscussionmEGOS is a validated tool to predict the inability to walk unaided at 4 and 26 weeks in patients with GBS, also in countries outside the Netherlands. We developed a region-specific version of mEGOS for patients from Europe/North America.Classification of EvidenceThis study provides Class II evidence that the mEGOS accurately predicts the inability to walk unaided at 4 and 26 weeks in patients with GBS.Trial Registration InformationNCT01582763.

Published
2022
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35. CSF Findings in Relation to Clinical Characteristics, Subtype, and Disease Course in Patients With Guillain-Barré Syndrome.

Author

Al-Hakem H, Doets AY, Stino AM, Zivkovic SA, Andersen H, Willison HJ, Cornblath DR, Gorson KC, Islam Z, Mohammad QD, Sindrup SH, Kusunoki S, Davidson A, Casasnovas C, Bateman K, Miller JAL, van den Berg B, Verboon C, Roodbol J, Leonhard SE, Arends S, Luijten LWG, Benedetti L, Kuwabara S, Van den Bergh P, Monges S, Marfia GA, Shahrizaila N, Galassi G, Pereon Y, Bürmann J, Kuitwaard K, Kleyweg RP, Marchesoni C, Sedano Tous MJ, Querol L, Martín-Aguilar L, Wang Y, Nobile-Orazio E, Rinaldi S, Schenone A, Pardo J, Vermeij FH, Waheed W, Lehmann HC, Granit V, Stein B, Cavaletti G, Gutiérrez-Gutiérrez G, Barroso FA, Visser LH, Katzberg HD, Dardiotis E, Attarian S, van der Kooi AJ, Eftimov F, Wirtz PW, Samijn JPA, Gilhuis HJ, Hadden RDM, Holt JKL, Sheikh KA, Kolb N, Karafiath S, Vytopil M, Antonini G, Feasby TE, Faber C, Kramers H, Busby M, Roberts RC, Silvestri NJ, Fazio R, van Dijk GW, Garssen MPJ, Verschuuren J, Harbo T, and Jacobs BC

Subjects
Adult, Female, Humans, Male, Middle Aged, Cell Count, Cerebrospinal Fluid cytology, Cohort Studies, Disease Progression, Internationality, Miller Fisher Syndrome cerebrospinal fluid, Miller Fisher Syndrome diagnosis, Miller Fisher Syndrome pathology, Miller Fisher Syndrome physiopathology, Prognosis, Treatment Outcome, Guillain-Barre Syndrome cerebrospinal fluid, Guillain-Barre Syndrome diagnosis, Guillain-Barre Syndrome pathology, Guillain-Barre Syndrome physiopathology
Abstract

Background and Objectives: To investigate CSF findings in relation to clinical and electrodiagnostic subtypes, severity, and outcome of Guillain-Barré syndrome (GBS) based on 1,500 patients in the International GBS Outcome Study., Methods: Albuminocytologic dissociation (ACD) was defined as an increased protein level (>0.45 g/L) in the absence of elevated white cell count (<50 cells/μL). We excluded 124 (8%) patients because of other diagnoses, protocol violation, or insufficient data. The CSF was examined in 1,231 patients (89%)., Results: In 846 (70%) patients, CSF examination showed ACD, which increased with time from weakness onset: ≤4 days 57%, >4 days 84%. High CSF protein levels were associated with a demyelinating subtype, proximal or global muscle weakness, and a reduced likelihood of being able to run at week 2 (odds ratio [OR] 0.42, 95% CI 0.25-0.70; p = 0.001) and week 4 (OR 0.44, 95% CI 0.27-0.72; p = 0.001). Patients with the Miller Fisher syndrome, distal predominant weakness, and normal or equivocal nerve conduction studies were more likely to have lower CSF protein levels. CSF cell count was <5 cells/μL in 1,005 patients (83%), 5-49 cells/μL in 200 patients (16%), and ≥50 cells/μL in 13 patients (1%)., Discussion: ACD is a common finding in GBS, but normal protein levels do not exclude this diagnosis. High CSF protein level is associated with an early severe disease course and a demyelinating subtype. Elevated CSF cell count, rarely ≥50 cells/μL, is compatible with GBS after a thorough exclusion of alternative diagnoses., Classification of Evidence: This study provides Class IV evidence that CSF ACD (defined by the Brighton Collaboration) is common in patients with GBS., (© 2023 American Academy of Neurology.)

Published
2023
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36. An International Perspective on Preceding Infections in Guillain-Barré Syndrome: The IGOS-1000 Cohort.

Author

Leonhard SE, van der Eijk AA, Andersen H, Antonini G, Arends S, Attarian S, Barroso FA, Bateman KJ, Batstra MR, Benedetti L, van den Berg B, Van den Bergh P, Bürmann J, Busby M, Casasnovas C, Cornblath DR, Davidson A, Doets AY, van Doorn PA, Dornonville de la Cour C, Feasby TE, Fehmi J, Garcia-Sobrino T, Goldstein JM, Gorson KC, Granit V, Hadden RDM, Harbo T, Hartung HP, Hasan I, Holbech JV, Holt JKL, Jahan I, Islam Z, Karafiath S, Katzberg HD, Kleyweg RP, Kolb N, Kuitwaard K, Kuwahara M, Kusunoki S, Luijten LWG, Kuwabara S, Lee Pan E, Lehmann HC, Maas M, Martín-Aguilar L, Miller JAL, Mohammad QD, Monges S, Nedkova-Hristova V, Nobile-Orazio E, Pardo J, Pereon Y, Querol L, Reisin R, Van Rijs W, Rinaldi S, Roberts RC, Roodbol J, Shahrizaila N, Sindrup SH, Stein B, Cheng-Yin T, Tankisi H, Tio-Gillen AP, Sedano Tous MJ, Verboon C, Vermeij FH, Visser LH, Huizinga R, Willison HJ, and Jacobs BC

Subjects
Herpesvirus 4, Human, Humans, Internationality, Campylobacter Infections complications, Campylobacter Infections epidemiology, Epstein-Barr Virus Infections complications, Guillain-Barre Syndrome diagnosis
Abstract

Background and Objectives: Infections play a key role in the development of Guillain-Barré syndrome (GBS) and have been associated with specific clinical features and disease severity. The clinical variation of GBS across geographical regions has been suggested to be related to differences in the distribution of preceding infections, but this has not been studied on a large scale., Methods: We analyzed the first 1,000 patients included in the International GBS Outcome Study with available biosamples (n = 768) for the presence of a recent infection with Campylobacter jejuni , hepatitis E virus, Mycoplasma pneumoniae , cytomegalovirus, and Epstein-Barr virus., Results: Serologic evidence of a recent infection with C. jejuni was found in 228 (30%), M. pneumoniae in 77 (10%), hepatitis E virus in 23 (3%), cytomegalovirus in 30 (4%), and Epstein-Barr virus in 7 (1%) patients. Evidence of more than 1 recent infection was found in 49 (6%) of these patients. Symptoms of antecedent infections were reported in 556 patients (72%), and this proportion did not significantly differ between those testing positive or negative for a recent infection. The proportions of infections were similar across continents. The sensorimotor variant and the demyelinating electrophysiologic subtype were most frequent across all infection groups, although proportions were significantly higher in patients with a cytomegalovirus and significantly lower in those with a C. jejuni infection. C. jejuni -positive patients were more severely affected, indicated by a lower Medical Research Council sum score at nadir ( p = 0.004) and a longer time to regain the ability to walk independently ( p = 0.005). The pure motor variant and axonal electrophysiologic subtype were more frequent in Asian compared with American or European C. jejuni -positive patients ( p < 0.001, resp. p = 0.001). Time to nadir was longer in the cytomegalovirus-positive patients ( p = 0.004)., Discussion: Across geographical regions, the distribution of infections was similar, but the association between infection and clinical phenotype differed. A mismatch between symptom reporting and serologic results and the high frequency of coinfections demonstrate the importance of broad serologic testing in identifying the most likely infectious trigger. The association between infections and outcome indicates their value for future prognostic models., (© 2022 American Academy of Neurology.)

Published
2022
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37. Consecutive Eyeball Pressure Tests Reflect Clinically Relevant Vagal Dysfunction and Recovery in a Patient With Guillain-Barré-Syndrome With Tenacious Cardiac Dysautonomia.

Author

Becker A, Behnke S, Walter S, Fousse M, Buob A, Bürmann J, Faßbender K, and Unger MM

Abstract

Cardiac dysautonomia is a potentially life-threatening complication of Guillain-Barré syndrome (GBS). Proper and prompt recognition of patients at risk and subsequent intensive care unit (ICU) monitoring are mandatory to prevent fatal outcome. Eyeball pressure testing (EP) has been suggested as an easy applicable bedside test for vagal overreactivity in GBS and thus identifying patients at risk. Yet, there is only sparse follow-up data concerning the course of EP findings in GBS. We report a 25 years-old male patient with GBS who underwent consecutive EP ( n = 11) during his ICU stay over a period of 11 weeks. The series of tests performed in this patient (and corresponding clinical events) show that EP data might represent an approximation of vagal dysfunction and vagal recovery in GBS. Interestingly, we observed a much longer duration of pathological EP compared to a previous report. The tenacious cardiac dysautonomia in this patient necessitated long-term application of a transvenous temporary pacemaker., (Copyright © 2020 Becker, Behnke, Walter, Fousse, Buob, Bürmann, Faßbender and Unger.)

Published
2020
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38. Gastric Motility in Parkinson's Disease is Altered Depending on the Digestive Phase and Does Not Correlate with Patient-Reported Motor Fluctuations.

Author

Ruck L, Unger MM, Spiegel J, Bürmann J, Dillmann U, Faßbender K, Reith W, Backens M, Mühl-Benninghaus R, and Yilmaz U

Subjects
Adult, Aged, Female, Humans, Magnetic Resonance Imaging, Male, Middle Aged, Parkinson Disease complications, Stomach Diseases etiology, Diagnostic Self Evaluation, Gastrointestinal Motility physiology, Parkinson Disease physiopathology, Stomach Diseases diagnostic imaging, Stomach Diseases physiopathology
Abstract

Background: Altered gastric motility is a frequent non-motor symptom of Parkinson's disease (PD). It has been hypothesized that disturbed gastric motility contributes to motor fluctuations in PD due to an erratic gastro-duodenal transport and an unpredictable absorption of drugs., Objective: We investigated whether patient-reported fluctuations are associated with parameters of gastric motility visualized by real-time magnetic resonance imaging (MRI) of the stomach., Methods: We analyzed real-time MRI-scans of the stomach after an overnight fasting period in 16 PD patients and 20 controls. MRI was performed 1) in the fasting state, 2) directly after a test meal, and 3) 4 hours postprandially. Gastric motility indices were calculated and compared between groups., Results: MRI showed an attenuated gastric motility in PD patients compared to controls. The difference was most obvious in the early postprandial phase. Gastric motility was not associated with patient-reported motor fluctuations. Using an iron-containing capsule we were able to retrace retention of drugs in the stomach., Conclusion: The results of this study stress the importance of considering the phase of digestion when investigating gastric motility in PD. Despite theoretical considerations, we did not find robust evidence for an association between MRI parameters of gastric motility and patient-reported motor fluctuations. For future studies that aim to investigate gastric motility in PD by MRI, we suggest multiple short-time MRIs to better track the whole gastro-duodenal phase in PD. Such an approach would also allow to retrace the retention of drugs in the stomach as shown by our approach using an iron-containing capsule.

Published
2020
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39. Third ventricular width assessed by transcranial ultrasound correlates with cognitive performance in Parkinson's disease.

Author

Behnke S, Pilotto A, Liepelt-Scarfone I, Yilmaz R, Pausch C, Dieterich S, Bürmann J, Spiegel J, Dillmann U, Unger M, Posner I, and Berg D

Subjects
Aged, Cognitive Dysfunction etiology, Cross-Sectional Studies, Dementia etiology, Female, Humans, Male, Middle Aged, Parkinson Disease diagnostic imaging, Ultrasonography, Doppler, Transcranial, Cognitive Dysfunction diagnostic imaging, Dementia diagnostic imaging, Parkinson Disease complications, Third Ventricle diagnostic imaging
Abstract

Introduction: Cognitive impairment and dementia are common in PD; however, no stable marker of cognitive dysfunction is available. Transcranial sonography can evaluate global and focal brain atrophy and has been widely used in the differential diagnosis of parkinsonism., Methods: 225 consecutive PD patients were recruited in a two-center cross sectional study and underwent a standardized sonographic protocol assessing the third ventricle's width and substantia nigra hyperechogenicity. All subjects were evaluated with an extensive motor and cognitive battery., Results: 222 PD patients were included and classified as PD with normal cognition (PDNC; n = 130), mild cognitive impairment (PD-MCI; n = 61) and dementia (PDD; n = 31). Ventricular width correlated strongly with cognitive performance in all cognitive domains (p < 0.001) while SN size did not. PDD patients had significantly wider ventricles than PD patients without dementia (p < 0.001) while differences between PD-MCI and PDNC or PDD were less strong (p < 0.05). There were no group differences in SN size. ROC analyses resulted in age-related cut-offs of third ventricular diameter for the prediction of PDD (6.0 and 7.5 mm for subjects < and ≥70 years of age, respectively). These cut-offs significantly differentiated PDD from PDNC (p < 0.001) and from all patients without dementia (PDNC + PD-MCI; p < 0.001)., Conclusions: The third ventricular diameter correlated with cognitive performance in all domains and was able to differentiate PDD patients from those without dementia. Longitudinal studies are warranted to evaluate whether transcranial sonography could identify PD patients at risk for a rapid cognitive decline., (Copyright © 2019 Elsevier Ltd. All rights reserved.)

Published
2019
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40. Fecal markers of intestinal inflammation and intestinal permeability are elevated in Parkinson's disease.

Author

Schwiertz A, Spiegel J, Dillmann U, Grundmann D, Bürmann J, Faßbender K, Schäfer KH, and Unger MM

Subjects
Adult, Aged, Biomarkers metabolism, Case-Control Studies, Female, Haptoglobins, Humans, Inflammatory Bowel Diseases diagnosis, Inflammatory Bowel Diseases etiology, Male, Middle Aged, Parkinson Disease complications, Parkinson Disease diagnosis, Permeability, Protein Precursors, Severity of Illness Index, Cholera Toxin metabolism, Feces chemistry, Inflammatory Bowel Diseases metabolism, Intestinal Mucosa metabolism, Lactoferrin metabolism, Leukocyte L1 Antigen Complex metabolism, Parkinson Disease metabolism, alpha 1-Antitrypsin metabolism
Abstract

Background/objective: Intestinal inflammation and increased intestinal permeability (both possibly fueled by dysbiosis) have been suggested to be implicated in the multifactorial pathogenesis of Parkinson's disease (PD). The objective of the current study was to investigate whether fecal markers of inflammation and impaired intestinal barrier function corroborate this pathogenic aspect of PD., Methods: In a case-control study, we quantitatively analyzed established fecal markers of intestinal inflammation (calprotectin and lactoferrin) and fecal markers of intestinal permeability (alpha-1-antitrypsin and zonulin) in PD patients (n = 34) and controls (n = 28, group-matched for age) by enzyme-linked immunosorbent assay. The study design controlled for potential confounding factors., Results: Calprotectin, a fecal marker of intestinal inflammation, and two fecal markers of increased intestinal permeability (alpha-1-antitrypsin and zonulin) were significantly elevated in PD patients compared to age-matched controls. Lactoferrin, as a second fecal marker of intestinal inflammation, showed a non-significant trend towards elevated concentrations in PD patients. None of the four fecal markers correlated with disease severity, PD subtype, dopaminergic therapy, or presence of constipation., Conclusions: Fecal markers reflecting intestinal inflammation and increased intestinal permeability have been primarily investigated in inflammatory bowel disease so far. Our data indicate that calprotectin, alpha-1-antitrypsin and zonulin could be useful non-invasive markers in PD as well. Even though these markers are not disease-specific, they corroborate the hypothesis of an intestinal inflammation as contributing factor in the pathogenesis of PD. Further investigations are needed to determine whether calprotectin, alpha-1-antitrypsin and zonulin can be used to define PD subgroups and to monitor the effect of interventions in PD., (Copyright © 2018 Elsevier Ltd. All rights reserved.)

Published
2018
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41. Short chain fatty acids and gut microbiota differ between patients with Parkinson's disease and age-matched controls.

Author

Unger MM, Spiegel J, Dillmann KU, Grundmann D, Philippeit H, Bürmann J, Faßbender K, Schwiertz A, and Schäfer KH

Subjects
Adult, Age Factors, Aged, Case-Control Studies, Chromatography, Gas, Feces microbiology, Female, Humans, Male, Middle Aged, Young Adult, Fatty Acids, Volatile metabolism, Gastrointestinal Microbiome genetics, Gastrointestinal Tract metabolism, Parkinson Disease metabolism, Parkinson Disease pathology
Abstract

Background: Patients with Parkinson's disease (PD) frequently have gastrointestinal symptoms (e.g. constipation) and exhibit the PD-typical pathohistology in the enteric nervous system (ENS). Both, clinical symptoms and pathohistological changes in the ENS occur at early stages and can precede the motor manifestations of PD. Two recent studies reported an association between changes in gut microbiota composition and PD. We hypothesized that alterations in gut microbiota might be accompanied by altered concentrations of short chain fatty acids (SCFA), one main metabolic product of gut bacteria., Methods: We quantitatively analyzed SCFA concentrations (using gas chromatography) and microbiota composition (using quantitative PCR) in fecal samples of 34 PD patients and 34 age-matched controls., Results: Fecal SCFA concentrations were significantly reduced in PD patients compared to controls. The bacterial phylum Bacteroidetes and the bacterial family Prevotellaceae were reduced, Enterobacteriaceae were more abundant in fecal samples from PD patients compared to matched controls., Conclusions: Our study confirms the recently reported association between PD and the abundance of certain gut microbiota and shows a reduction in fecal SCFA concentrations (one main metabolic product of certain gut bacteria). The reduction in SCFA might, theoretically, induce alterations in the ENS and contribute to gastrointestinal dysmotility in PD. Prospective longitudinal studies in subjects at risk for PD are required to further elucidate the causal role of gut microbiota and microbial products in the development of PD and PD-associated dysmotility., (Copyright © 2016 Elsevier Ltd. All rights reserved.)

Published
2016
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42. Unusual multisystemic involvement and a novel BAG3 mutation revealed by NGS screening in a large cohort of myofibrillar myopathies.

Author

Semmler AL, Sacconi S, Bach JE, Liebe C, Bürmann J, Kley RA, Ferbert A, Anderheiden R, Van den Bergh P, Martin JJ, De Jonghe P, Neuen-Jacob E, Müller O, Deschauer M, Bergmann M, Schröder JM, Vorgerd M, Schulz JB, Weis J, Kress W, and Claeys KG

Subjects
Adolescent, Adult, Aged, Female, Humans, Male, Middle Aged, Muscle, Skeletal pathology, Myopathies, Structural, Congenital complications, Myopathies, Structural, Congenital genetics, Pedigree, Phenotype, Young Adult, Adaptor Proteins, Signal Transducing genetics, Apoptosis Regulatory Proteins genetics, High-Throughput Nucleotide Sequencing methods, Muscle, Skeletal metabolism, Mutation
Abstract

Background: Myofibrillar myopathies (MFM) are a group of phenotypically and genetically heterogeneous neuromuscular disorders, which are characterized by protein aggregations in muscle fibres and can be associated with multisystemic involvement., Methods: We screened a large cohort of 38 index patients with MFM for mutations in the nine thus far known causative genes using Sanger and next generation sequencing (NGS). We studied the clinical and histopathological characteristics in 38 index patients and five additional relatives (n = 43) and particularly focused on the associated multisystemic symptoms., Results: We identified 14 heterozygous mutations (diagnostic yield of 37%), among them the novel p.Pro209Gln mutation in the BAG3 gene, which was associated with onset in adulthood, a mild phenotype and an axonal sensorimotor polyneuropathy, in the absence of giant axons at the nerve biopsy. We revealed several novel clinical phenotypes and unusual multisystemic presentations with previously described mutations: hearing impairment with a FLNC mutation, dysphonia with a mutation in DES and the first patient with a FLNC mutation presenting respiratory insufficiency as the initial symptom. Moreover, we described for the first time respiratory insufficiency occurring in a patient with the p.Gly154Ser mutation in CRYAB. Interestingly, we detected a polyneuropathy in 28% of the MFM patients, including a BAG3 and a MYOT case, and hearing impairment in 13%, including one patient with a FLNC mutation and two with mutations in the DES gene. In four index patients with a mutation in one of the MFM genes, typical histological findings were only identified at the ultrastructural level (29%)., Conclusions: We conclude that extraskeletal symptoms frequently occur in MFM, particularly cardiac and respiratory involvement, polyneuropathy and/or deafness. BAG3 mutations should be considered even in cases with a mild phenotype or an adult onset. We identified a genetic defect in one of the known genes in less than half of the MFM patients, indicating that more causative genes are still to be found. Next generation sequencing techniques should be helpful in achieving this aim.

Published
2014
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43. Principal Component Analysis of gait in Parkinson's disease: relevance of gait velocity.

Author

Dillmann U, Holzhoffer C, Johann Y, Bechtel S, Gräber S, Massing C, Spiegel J, Behnke S, Bürmann J, and Louis AK

Subjects
Acceleration, Adult, Aged, Biomechanical Phenomena physiology, Case-Control Studies, Exercise Test, Female, Humans, Male, Middle Aged, Research Design, Walking physiology, Gait Disorders, Neurologic physiopathology, Parkinson Disease physiopathology, Principal Component Analysis
Abstract

Principal Component Analysis (PCA) is a method to estimate the relation between data points. We used PCA to analyse movements of the upper and lower extremities during treadmill walking in healthy subjects and two groups of Parkinsonian patients. Healthy subjects (n=35) showed a typical pattern with high values of PC1 and low values in a descending order of PC2-PC4. Increase of speed resulted in a significant increase of PC1 and a significant decrease of the following PC's. In more severely affected patients (n=19, UPDRS>20), PC1 was significantly decreased and PC2-PC4 were significantly increased compared to healthy subjects. Speed could be increased only within a small range without corresponding changes of the PC's. In less severely affected patients (n=17), significant differences of the PC's were only found with fast pace. Separate analysis of arms and legs revealed that these changes are only due to altered movements of the arm. Analysis of the pattern of PC's in response to changes of gait velocities reveal alterations even in less severely affected Parkinsonian patients. The changes of the PC's with higher gait velocities in healthy subjects are suggestive of an increase of intersegmental coordination. This is impaired even in less severely affected Parkinsonian patients., (Copyright © 2013 Elsevier B.V. All rights reserved.)

Published
2014
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44. Evaluation of transcranial sonographic findings and MIBG cardiac scintigraphy in the diagnosis of idiopathic Parkinson's disease.

Author

Behnke S, Hellwig D, Bürmann J, Runkel A, Farmakis G, Kirsch CM, Fassbender K, Becker G, Dillmann U, and Spiegel J

Subjects
Adult, Aged, Cohort Studies, Female, Follow-Up Studies, Humans, Male, Middle Aged, Retrospective Studies, Myocardial Perfusion Imaging standards, Parkinson Disease diagnostic imaging, Ultrasonography, Doppler, Transcranial standards
Abstract

The diagnosis of idiopathic Parkinson's disease (IPD) is based on clinical criteria. In the last two decades several neuroimaging methods using transcranial sonography (TCS) or radiolabelled tracers such as the myocardial MIBG scintigraphy were applied to support diagnosis of IPD. They have been used independently of each other and their interrelation is not yet clear. In the present study we analyzed the relation between findings of TCS, MIBG scintigraphy, and clinical presentation in 42 patients with IPD who were clinically diagnosed and underwent clinical follow-up over ≥3 years in order to confirm IPD diagnosis throughout the clinical course. The extent of substantia nigra hyperechogenicity (SN+) contralateral to the clinically more affected body side (SN(contra)) was compared to myocardial (123)I-MIBG uptake. SN(contra) did not correlate with the myocardial MIBG uptake (r = -0.10; p = 0.52). Both myocardial MIBG uptake and TCS did not correlate significantly with Hoehn and Yahr stage (r = -0.03; p = 0.87 and r = -0.10; p = 0.54, respectively). Sensitivity of TCS in the diagnosis of IPD was 79%, of MIBG scintigraphy 81%. The combination of both measurements reached a sensitivity of 95%. TCS and MIBG scintigraphy may disclose complementary aspects of IPD. The combined use of both neuroimaging methods might improve the diagnostic sensitivity regarding IPD., (Copyright © 2013 Elsevier Ltd. All rights reserved.)

Published
2013
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45. Pulmonary aspergillosis: therapeutic management and prognostic factors from 16 years of monocenter experience.

Author

Pabst S, Krüger M, Skowasch D, Zhou H, Bürmann J, and Kaminski M

Subjects
Adolescent, Adult, Aged, Cohort Studies, Female, Follow-Up Studies, Humans, Male, Middle Aged, Prognosis, Pulmonary Aspergillosis mortality, Antifungal Agents therapeutic use, Pulmonary Aspergillosis therapy
Abstract

Twenty three patients of the University Hospital Bonn were reviewed following surgical procedures for pulmonary aspergilloma, including the choice of antifungal therapy, diagnostic findings, decision-making in treatment, and treatment outcomes of the past 16 years. We used pathological records to identify aspergilloma patients. A review of patients' records and follow-up phone calls to patients, families, or general practitioners were done. Data collected from 1995 to 2011 included patients with aspergilloma (n = 15), multiple aspergillomas (n = 2) and chronic necrotizing pulmonary aspergillosis (n = 6). Classification and diagnosis were based on pathological records. The decision to use systemic antimycotic therapy was based on perioperative findings suspecting parenchymal involvement of the fungal infection. Seventeen patients received systemic antimycotic chemotherapy. Compared with the use of Amphotericin B, newer drugs such as voriconazol, caspofungin, or posaconazol showed no better result in the morbidity and mortality of the patients. Postoperative complications requiring extended therapy and/or prolonged ICU stay (>48 h) were seen in 12 (52.2%) patients. During follow-up there were ten deaths; one death (4.4%) from aspergillus-associated sepsis, nine deaths from patients' underlying diseases (n = 4 within <3 months, n = 6 within >3 months of follow-up). In conclusion, in our cohort, immunocompromised patients with no documented preexisting lung-cavities were most likely to develop pulmonary aspergilloma. Postoperative morbidity (52.2%) was high, but related mainly to patient co-morbidity; postoperative mortality was reasonably low. Patients showing classical symptoms or immunocompromised patients should be considered for surgery. Encapsulated Aspergilloma without invasion of surrounding parenchyma requires no antifungal chemotherapy.

Published
2013
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46. [Neurological manifestations of AGel amyloidosis (Meretoja's syndrome) in a German family].

Author

Bürmann J, Fassbender K, Henn W, Lohse P, Holzhoffer C, Fassbender K, and Dillmann U

Subjects
Aged, Amyloidosis complications, Amyloidosis physiopathology, Amyloidosis, Familial complications, Chromosomes, Human, Pair 9 genetics, Corneal Dystrophies, Hereditary complications, Corneal Dystrophies, Hereditary etiology, Corneal Dystrophies, Hereditary physiopathology, Cutis Laxa etiology, Electrodiagnosis, Exons genetics, Facial Paralysis etiology, Facial Paralysis physiopathology, Family, Female, Finland, Humans, Male, Middle Aged, Movement Disorders etiology, Mutation genetics, Nervous System Diseases etiology, Amyloidosis, Familial physiopathology, Gelsolin genetics, Nervous System Diseases physiopathology
Abstract

AGel amyloidosis is an autosomal dominantly inherited systemic amyloidosis which is most commonly observed in Finland. The clinical manifestation is characterised by lattice corneal dystrophy, bilateral facial palsy with myokymias, and cutis laxa. We report on a German family with an AGel amyloidosis due to a gelsolin p.Asp214Asn/D187N mutation encoded by exon 4 of the GSN gene on chromosome 9q34., (© Georg Thieme Verlag KG Stuttgart · New York.)

Published
2011
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