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51. IP 853. AVXS-101 Phase-1-Gene Therapy Clinical Trial in SMA Type 1: Event-Free Survival and Achievement of Developmental Milestones

Author: Kathrin Meyer, Arthur H.M. Burghes, James L’Italien, Linda Lowes, Kathleen Church, Samiah Al-Zaidy, Richard Shell, Thomas W. Prior, Courtney Wells, William Arnold, Brian K. Kaspar, Sukumar Nagendran, Louise R. Rodino-Klapac, Jerry R. Mendell, Foust Kevin, Shibi Likhite, John T. Kissel, K. Berry, Lindsay N. Alfano, and Douglas M. Sproule
Subjects: Clinical trial, Oncology, medicine.medical_specialty, business.industry, Internal medicine, Genetic enhancement, Event free survival, Developmental Milestone, medicine, SMA, business
Published: 2018
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52. Patient Reported Impact of Symptoms in Spinal Muscular Atrophy (PRISM-SMA)

Author: Michael P. McDermott, Chad Heatwole, Connie Garland, Nuran Dilek, Elizabeth Luebbe, Phillip Mongiovi, John T. Kissel, Michael Hunter, and Nicholas Johnson
Subjects: Adult, Employment, Male, 0301 basic medicine, medicine.medical_specialty, Activities of daily living, Adolescent, Cross-sectional study, Population, Walking, 030105 genetics & heredity, Affect (psychology), Article, Muscular Atrophy, Spinal, Disability Evaluation, Young Adult, 03 medical and health sciences, 0302 clinical medicine, Rare Diseases, Activities of Daily Living, Prevalence, medicine, Humans, Patient Reported Outcome Measures, Young adult, education, Aged, Aged, 80 and over, education.field_of_study, business.industry, Spinal muscular atrophy, Middle Aged, Respiration Disorders, Self-Help Devices, medicine.disease, SMA, Cross-Sectional Studies, Communication Disorders, Physical therapy, Female, Neurology (clinical), Deglutition Disorders, Choking, business, 030217 neurology & neurosurgery
Abstract: ObjectiveTo determine the frequency and relative importance of symptoms experienced by adults with spinal muscular atrophy (SMA) and to identify factors that are associated with a higher burden of disease in this population.MethodsWe conducted a cross-sectional study of 359 adults with SMA using the International SMA Patient Registry. Participants provided input regarding 20 symptomatic themes and 207 symptoms that potentially affect adults with SMA. Participants were asked about the relative importance of each symptom, and analysis was conducted to determine how age, sex, SMA type, education, mobility, and employment status relate to symptom prevalence.ResultsLimitations with mobility or walking (98.6%) and the inability to do activities (98.6%) were the 2 themes with the highest prevalence in the study sample. Limitation with mobility or walking was the theme that was identified as having the greatest effect on the lives of adults with SMA. Employment status was associated with the prevalence of 4 of 20 themes and a reliance on an assistive device was associated with 7 of 20 themes. The prevalence of breathing difficulties, choking or swallowing difficulties, and communication difficulties differed among those with different SMA types.ConclusionsThere are many symptomatic themes that affect the lives of adults with SMA. These themes vary in prevalence and relative importance in the adult SMA population.
Published: 2018

53. Health outcomes in spinal muscular atrophy type 1 following AVXS-101 gene replacement therapy

Author: Kavitha Kotha, Richard Shell, O. Dabbous, Douglas M. Sproule, Kathleen Church, Linda Lowes, W. David Arnold, Grace R. Paul, Benit Maru, Samiah Al-Zaidy, Kelly J. Lehman, K. Berry, Lindsay N. Alfano, John T. Kissel, Jerry R. Mendell, and A. Simon Pickard
Subjects: Pulmonary and Respiratory Medicine, medicine.medical_specialty, Neuromuscular disease, Psychological intervention, SMN1, SMA1, Spinal Muscular Atrophies of Childhood, Sitting, Muscular Atrophy, Spinal, 03 medical and health sciences, 0302 clinical medicine, Quality of life, 030225 pediatrics, Internal medicine, Medicine, health outcomes, Humans, AVXS‐101, Original Article: Pcd, Pig, Nehi, Child, and Rare Diseases, spinal muscular atrophy, business.industry, PCD, PIG, NEHI, ChiLD, and Rare Diseases, Infant, Newborn, Infant, gene replacement, Caregiver burden, Spinal muscular atrophy, Original Articles, Genetic Therapy, medicine.disease, gene therapy, Survival of Motor Neuron 1 Protein, Natural history, Treatment Outcome, 030228 respiratory system, quality of life, Child, Preschool, Pediatrics, Perinatology and Child Health, Mutation, business
Abstract: Background Spinal Muscular Atrophy type 1 (SMA1) is a rare genetic neuromuscular disease where 75% of SMA1 patients die/require permanent-ventilation by 13.6 months. This study assessed the health outcomes of SMA1 infants treated with AVXS-101 gene replacement therapy. Methods Twelve genetically confirmed SMA1 infants with homozygous deletions of the SMN1 gene and two SMN2 gene copies received a one-time intravenous proposed therapeutic dose of AVXS-101 in an open label study conducted between December 2014 and 2017. Patients were followed for 2-years post-treatment for outcomes including (1) pulmonary interventions; (2) nutritional interventions; (3) swallow function; (4) hospitalization rates; and (5) motor function. Results All 12 patients completed the study. Seven infants did not require noninvasive ventilation (NIV) by study completion. Eleven patients had stable or improved swallow function, demonstrated by the ability to feed orally; 11 patients were able to speak. The mean proportion of time hospitalized was 4.4%; the mean unadjusted annualized hospitalization rate was 2.1 (range = 0, 7.6), with a mean length of stay/hospitalization of 6.7 (range = 3, 12.1) days. Eleven patients achieved full head control and sitting unassisted and two patients were walking independently. Conclusions AVXS-101 treatment in SMA1 was associated with reduced pulmonary and nutritional support requirements, improved motor function, and decreased hospitalization rate over the follow-up period. This contrasts with the natural history of progressive respiratory failure and reduced survival. The reduced healthcare utilization could potentially alleviate patient and caregiver burden, suggesting an overall improved quality of life following gene replacement therapy. Trial registration ClinicalTrials.gov number, NCT02122952.
Published: 2018

54. Safety, tolerability, and preliminary efficacy of an IGF-1 mimetic in patients with spinal and bulbar muscular atrophy: a randomised, placebo-controlled trial

Author: Christopher Grunseich, Ram Miller, Therese Swan, David J Glass, Mohamed El Mouelhi, Mara Fornaro, Olivier Petricoul, Igor Vostiar, Ronenn Roubenoff, Matthew N Meriggioli, Angela Kokkinis, Robert D Guber, Maher S Budron, John Vissing, Gianni Soraru, Tahseen Mozaffar, Albert Ludolph, John T Kissel, Kenneth H Fischbeck, Julia Dahlqvist, Nanna Witting, Ilaria Martinelli, Giorgia Querin, Namita A Goyal, Tiyonnoh M Cash, Brian Minton, Angela Rosenbohm, Ulrike Weiland, Patrick Weydt, Sharon Chelnick, Stanley Iyadurai, and Wendy King
Subjects: 0301 basic medicine, Adult, Male, medicine.medical_specialty, Neuromuscular disease, International Cooperation, Placebo-controlled study, Bulbo-Spinal Atrophy, X-Linked, Placebo, law.invention, Cohort Studies, 03 medical and health sciences, 0302 clinical medicine, Randomized controlled trial, Double-Blind Method, law, Biomimetics, Internal medicine, Medicine, Humans, Insulin-Like Growth Factor I, Myopathy, Adverse effect, Aged, Dose-Response Relationship, Drug, business.industry, Middle Aged, medicine.disease, Magnetic Resonance Imaging, Spinal and bulbar muscular atrophy, Muscular Atrophy, 030104 developmental biology, Treatment Outcome, Tolerability, Female, Neurology (clinical), medicine.symptom, business, 030217 neurology & neurosurgery
Abstract: Summary Background Spinal and bulbar muscular atrophy is an X-linked neuromuscular disease caused by CAG repeat expansion in the androgen receptor gene. Patients with this disease have low concentrations of insulin-like growth factor-1 (IGF-1), and studies of overexpression and administration of IGF-1 showed benefit in a transgenic model; thus the IGF-1 pathway presents as a potential treatment target. We assessed safety, tolerability, and preliminary efficacy of BVS857, an IGF-1 mimetic, in patients with spinal and bulbar muscular atrophy. Methods In this randomised, double-blind, placebo-controlled trial, we recruited patients from neuromuscular centres in Denmark (Copenhagen), Germany (Ulm), Italy (Padova), and three sites within the USA (Bethesda, MD; Irvine, CA; and Columbus, OH). Eligible patients were 18 years or older with a confirmed genetic diagnosis of spinal and bulbar muscular atrophy, were ambulatory, had symptomatic weakness, and had serum IGF-1 concentrations of 170 ng/mL or lower. Patients were randomly assigned (2:1) to study drug or placebo by a number scheme. Patients, investigators, and study personnel were masked to treatment assignment. After a safety and tolerability assessment with eight patients, BVS857 was administered once a week (0·06 mg/kg intravenously) for 12 weeks. Primary outcome measures were safety, tolerability, and the effects of BVS857 on thigh muscle volume (TMV) measured by MRI. The ratio of TMV at day 85 to baseline was analysed with ANCOVA per protocol. Secondary outcomes of muscle strength and function were measured with the Adult Myopathy Assessment Tool, lean body mass through dual energy x-ray absorptiometry, and BVS857 pharmacokinetics. This trial was registered with ClinicalTrials.gov , NCT02024932 . Findings 31 patients were assessed for eligibility, 27 of whom were randomly assigned to either BVS857 treatment (n=18) or placebo (n=9), and 24 were included in the preliminary efficacy analysis (BVS857 group, n=15; placebo group, n=9). BVS857 was generally safe with no serious adverse events. No significant differences were found in adverse events between the BVS857 and placebo groups. Immunogenicity was detected in 13 (72%) of 18 patients in the BVS857 group, including crossreacting antibodies with neutralising capacity to endogenous IGF-1 in five patients. TMV decreased from baseline to day 85 in the placebo group (–3·4% [–110 cm3]) but not in the BVS857 group (0% [2 cm3]). A significant difference in change in TMV was observed in the BVS857 group versus the placebo group (geometric-mean ratio 1·04 [90% CI 1·01–1·07]; p=0·02). There were no differences between groups in measures of muscle strength and function. Interpretation TMV remained stable in patients with spinal and bulbar muscular atrophy after being given BVS857 for 12 weeks. The intervention was associated with high incidence of immunogenicity and did not improve muscle strength or function. Additional studies might be needed to assess the efficacy of activating the IGF-1 pathway in this disease. Funding Novartis Pharmaceuticals and the US National Institutes of Health.
Published: 2018

55. Open-label trial of ranolazine for the treatment of paramyotonia congenita

Author: Samantha, Lorusso, David, Kline, Amy, Bartlett, Miriam, Freimer, Julie, Agriesti, Ahmed A, Hawash, Mark M, Rich, John T, Kissel, and W, David Arnold
Subjects: musculoskeletal diseases, Adult, Male, Muscle Weakness, Hand Strength, Electromyography, Pain, Stiff-Person Syndrome, Middle Aged, Severity of Illness Index, Article, Ranolazine, Humans, Female, Myotonic Disorders, Sodium Channel Blockers
Abstract: INTRODUCTION: Paramyotonia congenita (PMC) is a non-dystrophic myotonic disorder that is believed to be caused by a defect in Na(v)1.4 sodium channel inactivation. Ranolazine, which acts by enhancing slow inactivation of sodium channels, has been proposed as a therapeutic option, but in vivo studies are lacking. METHODS: We conducted an open-label, single-center trial of ranolazine to evaluate efficacy and tolerability in patients with PMC. Subjective symptoms of stiffness, weakness, and pain, as well as clinical and electrical myotonia, were evaluated. Baseline measures were compared with those after 4 weeks on ranolazine. RESULTS: Ranolazine was tolerated well without any serious adverse events. Both subjective symptoms and clinical myotonia were significantly improved. EMG myotonia duration was reduced, but this change was not statistically significant in all muscles tested. DISCUSSION: Our findings support the use of ranolazine as a treatment for myotonia in PMC and suggest that a randomized, placebo-controlled trial is warranted.
Published: 2018

56. An overview of the Cure SMA membership database: Highlights of key demographic and clinical characteristics of SMA members

Author: Suzanne F. Cook, Jill Jarecki, Mary K. Schroth, Thomas O. Crawford, Lisa Belter, Kenneth Hobby, Cynthia C. Jones, and John T. Kissel
Subjects: 0301 basic medicine, First contact, Adult, Male, Research Report, Adolescent, Databases, Factual, Age at diagnosis, 030105 genetics & heredity, Spinal Muscular Atrophies of Childhood, computer.software_genre, survival, 03 medical and health sciences, Young Adult, 0302 clinical medicine, Age Distribution, patient reported data, Medicine, Humans, Registries, Age of Onset, Sex Distribution, Child, Database, business.industry, Incidence (epidemiology), Incidence, nusinersen, Infant, patient registries, Middle Aged, Spinal muscular atrophy, SMA, Therapeutic modalities, United States, Geographic distribution, Survival Rate, Neurology, Child, Preschool, Nusinersen, Female, Neurology (clinical), Self Report, birth prevalence, business, computer, 030217 neurology & neurosurgery
Abstract: Background The Cure SMA database is one of the largest patient reported databases for people affected with SMA. Objective The purpose of this study was to examine a subset of affected SMA persons with types I, II, and III from a patient reported database. Methods Individuals with SMA were selected from the database using a date of first contact to Cure SMA between 2010 and 2016. Data analyzed included age at diagnosis, number of weeks from SMA diagnosis to contacting Cure SMA, and geographic distribution of individuals. Results A total of 1,966 individuals with SMA were included in the analysis. Of these individuals, 51.9% had type I, 32.3% had type II, and 15.8% had type III. The average age of diagnosis for type I patients was 5.2 months, 22.1 months for type II, and 97.8 months for type III. From published incidence, about 59.0% of affected individuals in the US are registered in the Cure SMA database. Conclusions The Cure SMA database is a unique and robust source of patient reported data that informs on the burden of illness and supports the development of new therapeutic modalities.
Published: 2018

57. Facioscapulohumeral muscular dystrophy functional composite outcome measure

Author: Katy, Eichinger, Chad, Heatwole, Stanley, Iyadurai, Wendy, King, Lindsay, Baker, Susanne, Heininger, Amy, Bartlett, Nuran, Dilek, William B, Martens, Michael, Mcdermott, John T, Kissel, Rabi, Tawil, and Jeffrey M, Statland
Abstract: We developed an evaluator-administered functional facioscapulohumeral muscular dystrophy composite outcome measure (FSHD-COM) comprising patient-identified areas of functional burden for future clinical trials.We performed a prospective observational study of 41 patients with FSHD at 2 sites. The FSHD-COM includes functional assessment of the legs, shoulders and arms, trunk, hands, and balance/mobility. We determined the test-retest reliability and convergent validity compared to established FSHD disease metrics.The FSHD-COM demonstrated excellent test-retest reliability (intraclass correlation coefficient [ICC] 0.96; subscale ICC range, 0.90-0.94). Cross-sectional associations between the FSHD-COM and disease duration, clinical severity, and strength were moderate to strong (Pearson correlation coefficient range |0.51-0.92|).The FSHD-COM is a disease-relevant, functional composite outcome measure suitable for future FSHD clinical trials that shows excellent test-retest reliability and cross-sectional associations to disease measures. Future directions include determining multisite reliability, sensitivity to change, and the minimal clinically important change in the FSHD-COM. Muscle Nerve, 2018.
Published: 2018

58. First Search for Nontensorial Gravitational Waves from Known Pulsars

Author: F. Frasconi, R. Flaminio, J.-P. Coulon, S. T. Countryman, Andrew Matas, R. Kirchhoff, B. L. Pearlstone, D. M. Macleod, J. Moore, B. L. Swinkels, J. M. Gonzalez Castro, G. Bergmann, D. Passuello, J. Daw, B. D. Cheeseboro, G. Cerretani, A. Cirone, C. Ferreira, V. Tiwari, Yann Bouffanais, T. Huynh-Dinh, S. R. Morriss, D. Barta, H. Cao, D. J. Vine, L. Willis, J. Calderón Bustillo, Edward K. Porter, John T. Kissel, Marc Favata, M. Perri, Roger Jones, V. J. Roma, A. P. Spencer, Anthony A. Amato, N. van Bakel, V. Kringel, Jacob Broida, F. Garufi, Lucas Guillemot, C. Messenger, D. Bersanetti, Piotr Jaranowski, Tyson Littenberg, Leopoldo Milano, V. Fafone, A. Masserot, J. Owen, Kendall Ackley, R. K. Nayak, K. Kawabe, S. N. Tiwari, S. M. Aston, K. Ueno, A. Strain, Michael W. Coughlin, P. Singer, Odylio D. Aguiar, Bala R. Iyer, Surabhi Sachdev, Christopher J. Moore, M. Scott, S. McCormick, P. Spencer, V. V. Frolov, M. M. Reid, A. Singhal, A. Bizouard, N. Leroy, J. Camp, P. Coulon, Chunnong Zhao, Badri Krishnan, A. Sonnenberg, D. Fiorucci, A. R. Wade, G. Kuehn, F. Magaña-Sandoval, L. Byer, Benoit Sassolas, V. Kondrashov, Stanislav Babak, Arunava Mukherjee, Y. Minenkov, K. Lanza, H. Wittel, S. G. Schwalbe, M. Phelps, R. G. Ormiston, I. Khan, I. Torrie, T. D. Canton, B. Day, C. Aulbert, W. D. Vousden, L. Matone, Haocun Yu, B. Agarwal, B. Bécsy, M. Kasprzack, C. M. Mow-Lowry, Sergey P. Vyatchanin, E. Schreiber, P. J. Sutton, G. Thomas, J. H. Romie, F. J. Raab, M. H. Wimmer, C. Krämer, C. C. Buchanan, P. Popolizio, Koji Arai, E. J. Sanchez, M. Shoemaker, M. Gosselin, E. E. Cowan, Sarah Williams, S. Gaudio, M. Constancio, S. Karki, T. J. Cullen, R. Douglas, N. Mukund, A. K. W. Chung, S. Mastrogiovanni, R. K. Lanza, Sumit Kumar, B. F. Whiting, P. Abbott, Kin Fai Ellick Wong, J. Casanueva Diaz, P. Schale, V. Germain, S. Gomes, A. Huerta, C. Lazzaro, Patricia Schmidt, A. Avila-Alvarez, V. Brisson, K. S. Karvinen, L. R. Cominsky, R. Gustafson, P. Thomas, John A. Clark, Ben Farr, Christophe Collette, C. J. Perez, N. Gehrels, Marek Szczepanczyk, P. Oppermann, K. Gill, Frédérique Marion, Charalampos Markakis, Michael Pürrer, Walter Winkler, A. S. Markosyan, Harald Lück, M. Boer, L. E. Wade, G. Kang, A. Pal-Singh, R. L. Savage, A. S. Bell, J. L. Willis, M. Laxen, C. Van Den Broeck, Sylvia J. Zhu, D. Verkindt, S. Buchner, P. T.H. Pang, R. Tso, Patrick M. Koch, J. A. Taylor, Michele Vallisneri, P. Berry, Ik Siong Heng, M. Fays, J. Page, P. Astone, Larne Pekowsky, W. K. Wong, Serena Vinciguerra, R. Pedurand, Benno Willke, K. W. Tsang, Samuel Deléglise, A. Fernandez-Galiana, Miftar Ganija, D. Huet, J. King, J. Shaffer, S. H. Huttner, J. D. Jones, G. Wu, S. Raja, S. E. Strigin, Roy Williams, Anthony G. A. Brown, Mairi Sakellariadou, C. Vander-Hyde, G. Pillant, Tenglin Li, M. Guidi, I. Kowalska, Marie-Anne Bizouard, C. Cahillane, J. Hennig, A. Khazanov, V. Gayathri, S. Walsh, Miriam Cabero, A. Muniz, A. Di Lieto, M. Saleem, M. Cho, C. Pankow, J. A. Sonnenberg, A. L. Stuver, P. M. Meyers, Jing Wang, Jiayi Qin, A. Singer, László Á. Gergely, M. Harry, S. Banagiri, A. Pele, M. Rakhmanov, E. Mejuto-Villa, T. Etzel, Patrick Weltevrede, B. D. Lackey, I. Magaña Hernandez, Kipp Cannon, M. Steinke, R. Mittleman, Nelson Christensen, Barry C. Barish, Nergis Mavalvala, Jerome Degallaix, A. Hannuksela, C. Casentini, Sebastian Khan, B. C. Stephens, Paul J. Groot, M. Zevin, B. W. Schulte, F. Y. Khalili, S. J. Chamberlin, M. Vasúth, Howard Pan, Aaron Buikema, C. C. Wipf, E. J. King, C. S. Unnikrishnan, G. Gaur, S. C. McGuire, J. F. Read, S. Di Pace, Tomasz Bulik, Richard J. Oram, M. C. Heintze, Andrew Melatos, M. Lorenzini, M. Thomas, M. J. Yap, Alessandra Buonanno, R. Metzdorff, C.-J. Haster, Gabrielle Allen, J.-M. Isac, J. B. Kanner, H. Fong, G. Greco, François Bondu, J. Zweizig, Samuele Cortese, John Veitch, Vladimir B. Braginsky, J. Oram, J. Lehmann, C. Palomba, H. Vahlbruch, K. Riles, Jonathan Cripe, H. Middleton, C. Beer, J. C. Barayoga, Lloyd Paul Aiello, B. C. Pant, N. Indik, W. W. Johnson, D. Aguiar, A. Giazotto, N. Arnaud, Maggie Tse, M. S. Shahriar, M. Bejger, D. B. Tanner, E. L. Merilh, M. J. Cowart, K. E. Ramirez, P. Downes, M. Afrough, F. Jiménez-Forteza, Sourav Ghosh, Imre Bartos, H. Fehrmann, M. Factourovich, S. Cho, C. R. Billman, F. Cleva, S. G. Crowder, N. Kijbunchoo, K. Wessel, F. Carbognani, Sebastian Steinlechner, Vijay Varma, Soumi De, M. Weinert, H. A. G. Gabbard, M. MacInnis, F. Fidecaro, G. M. Guidi, Sibilla Di Pace, P. Ross, E. A. Houston, P. Shawhan, I. Ferrante, J. McIver, P. Puppo, A. W. Muir, P. Charlton, Kejia Lee, I. Maksimovic, S. Mitra, D. V. Voss, R. L. Ward, Otto A. Hannuksela, Lu Zhang, Rana X. Adhikari, M. Korobko, B. U. Gadre, Sebastien Biscans, G. Hemming, G. McIntyre, T. B. Edo, M. Pichot, Maximiliano Isi, Leo Singer, N. Letendre, P. Drever, Abhirup Ghosh, M. Aston, H. Ogin, H. N. Isa, M. Nery, B. Machenschalk, F. Donovan, S. A. Usman, Roman Schnabel, J. E. Brau, Karsten Danzmann, A. A. van Veggel, Javier Sánchez, Hua Wang, B. Tanner, P. Rapagnani, Andreas Freise, Vincenzo Pierro, Paul D. Lasky, Matthew Pitkin, R. K.L. Lo, E. A. Huerta, M. Granata, Ettore Majorana, R. Goetz, Tarun Souradeep, M. Fries, C. L. Romel, E. Katsavounidis, V. Quetschke, M. Was, S. M. Koehlenbeck, H. Vocca, Eugeniy E. Mikhailov, Bangalore Suryanarayana Sathyaprakash, L. Rolland, Fabrizio Barone, M. Mohan, N. Man, K. Haughian, A. Quintero, Martin M. Fejer, J. R. Smith, R. Bork, S. Ghonge, K. AultONeal, M. Punturo, J. Betzwieser, Q. Chu, Slawomir Gras, John Miller, Matthew Ross, Lionel Martellini, M. E. N. Normandin, H. Shoemaker, S. Areeda, Madeline Wade, P. Leaci, A. Colla, L. Mansell, Y. Khalili, D. Nolting, Ryan Magee, J. W. W. Pratt, Gregory M. Harry, M. Ast, R. Kennedy, Efim A. Khazanov, G. Ballardin, K. Porter, Antoine Heidmann, Geoffrey Lovelace, H. Lai, P. A. Altin, Alvin J. K. Chua, D. Barker, Denis Martynov, Marco Bazzan, K. H. Lai, A. A. Shah, Minchuan Zhou, J. Haster, D. J. McManus, Vuk Mandic, Peter Fritschel, M. Masso-Reid, D. Töyrä, H. Radkins, H. Overmier, A. Bozzi, C. Baune, D. Sellers, Alessandro Ridolfi, M. Hu, C. F. Da Silva Costa, M. Neri, D. Lumaca, J. A. Giaime, J. Meidam, L. Pinard, Aaron Viets, Sung-Po Chao, R. De Rosa, M. C. Tringali, Peter Weßels, Zifan Zhou, I. A. Bilenko, David J. Ottaway, A. Paoli, M. Gaebel, D. Talukder, S. Rabeling, David A. Williams, D. C. Vander-Hyde, I. W. Harry, H. Qi, L. Magaña Zertuche, I. Nardecchia, Carlos Cepeda, M. Branchesi, J. C. Batch, A. Gennai, Rahul Kumar, Harald P. Pfeiffer, M. Farr, K. Mason, J. Mcmanus, J. Devenson, D. Hall, A. Chiummo, H.-B. Eggenstein, Luca Gammaitoni, J. Zhu, P. T. Baker, R. Robie, P. Ehrens, Paul M. Ricker, M. Brinkmann, Anders Nielsen, S. Kaufer, Rainer Weiss, Ashutosh Kumar Singh, F. Ricci, Alessandro Corongiu, Y. M. Kim, Hsiao-Wen Chen, Federico Ferrini, Lijing Shao, G. Vajente, S. M. Gaebel, T. Prestegard, K. K.Y. Ng, Riccardo Sturani, Robert J. McCarthy, Linqing Wen, A. Sheperd, E. C. Ferreira, Sanjeev Dhurandhar, M. Sampson, Ryan Shannon, Z. Tornasi, I. Di Palma, M. Rizzo, V. Predoi, I. W. Martin, David E. McClelland, S. Appert, P. B. Covas, Edward Seidel, F. Clara, Tristan Briant, O. E. S. Sauter, J. Feicht, B. Sandeen, M. C. Edwards, L. Naticchioni, Salvatore Vitale, S. Sathyaprakash, Joey Shapiro Key, Yu Zhang, S. Ascenzi, Kip S. Thorne, J. R. Sanders, Gang Wang, Alessandro Bertolini, J. C. Driggers, R. W. P. Drever, David Coward, E. Schmidt, Sheon Chua, B. Braginsky, R. Bonnand, J. Woehler, A. K. Zadrożny, T. Derosa, M. van Beuzekom, B. Rei, David A. Nichols, J. Raab, E. M. Fries, Britton D. Smith, A. L. Urban, A. Usman, A. Giaime, L. Sun, A. C. Green, S. Chung, L. Danilishin, Evan Ochsner, W. Z. Korth, D. Hoak, Stefan L. Danilishin, D. Sentenac, A. J. Weinstein, Patrick Brady, J. S. Areeda, L. Trozzo, Priscilla Canizares, L. Swinkels, T. Sadecki, Laleh Sadeghian, R. C. Walet, V. P. Mitrofanov, M. Coward, H. J. Bulten, L. Glover, Fausto Acernese, Albert Lazzarini, M. Bitossi, T. Di Girolamo, M. C. Araya, A. G. Clark, V. Boschi, S. Penn, D. Schuette, A. Ananyeva, M. Landry, M. K. M. Bader, Mi Zhang, C. Gray, G. H. Ogin, T. J. Shaffer, O. J. Piccinni, K. Wette, John J. Oh, Timothy Evans, L. Di Fiore, Xavier Siemens, Jochen Schmidt, S. Grunewald, C. Celestino Silva, W. Del Pozzo, P. F. Cohadon, H. Heitmann, A. Bilenko, C. Affeldt, M. Bawaj, M. Mantovani, P. Mohapatra, R. C. Devine, Christopher M. Biwer, M. Newport, Samaya Nissanke, R. Taylor, S. Frasca, G. L. Mansell, A. Houston, George Hobbs, M. Barsuglia, Enrico Calloni, G. Traylor, V. Dattilo, Edwin J. Son, P. Aufmuth, Thomas Corbitt, M. Lee, Olivier Minazzoli, Chandra Kant Mishra, S. Koley, Amanda J. Page, David Blair, Laura Sampson, J. Perez, R. Bhandare, M. Razzano, Lee McCuller, N. Mazumder, R. T. DeRosa, A. Grant, David Jones, L. Salconi, C. A. Costa, Marco Cavaglia, A. Viceré, Stefan Hild, D. Pascucci, Tiantian Zhang, Y. Ma, A. Possenti, Riccardo Ciolfi, Yi Chen, Athol J. Kemball, Roger Smith, James G. Bartlett, Kazuhiro Agatsuma, Adam A. Libson, Robinjeet Singh, A. Brillet, J. Roma, L. Conti, J. Slagmolen, F. Martelli, Karan Jani, C. Bradaschia, M. Gonzalez Castro, A. Thorne, F. Mezzani, L. Savage, Frank Ohme, M. Tonelli, Ismaël Cognard, Paulo C. C. Freire, Sau Lan Wu, James Healy, L. Pearlstone, S. Bae, B. Mours, P. Mitrofanov, C. Adams, R. M. Blair, D. Sigg, M. Vardaro, A. Post, M. Leonardi, Alessandro Costa, F. Robinet, S. Márka, M. Yvert, T. D. Abbott, O. Puncken, Zoheyr Doctor, Stephen Fairhurst, Carl Blair, E. Coccia, M. E. Zucker, C. Graef, B. A. Weaver, Laura Cadonati, L. Rei, J. G. Rollins, L.-W. Wei, Gijs Nelemans, E. D. Hall, Jolien D. E. Creighton, A. W. Heptonstall, Vivien Raymond, Peter R. Saulson, Archana Pai, P. Brockill, F. Paoletti, G. Vedovato, William Yam, L. Wallace, D. B. Kozak, S. J. Kimbrell, L. Kleybolte, J. Ottaway, P. Ruggi, L. Cerboni Baiardi, M. Kim, Terry G. McRae, S. S. Forsyth, A. Mullavey, T. J. N. Nelson, Kenneth A. Strain, Jimin George, M. Sieniawska, S. W. Ballmer, Gregory Ashton, K. Holt, Chunglee Kim, V. Sandberg, A. Perreca, Fabio Marchesoni, C. Vorvick, Daniel R. George, Kris Ryan, E. A. Quintero, Andrew Lundgren, Susan M. Scott, Y. Wang, A. Królak, R. Frey, Duncan Meacher, M. Macleod, Xiaohui Fan, W. S. Kim, Richard O'Shaughnessy, B. Barr, E. A. Muñiz, T. Denker, Christopher P. L. Berry, A. D. Silva, S. Brunett, Michelle E. Walker, B. Shapiro, Debarati Chatterjee, J. K. Nelson, C. E. Cirelli, Daniele Trifirò, Chad Hanna, T. A. Callister, N. M. Brown, D. S. Rabeling, M. Di Giovanni, K. E. Gushwa, Reinhard Prix, M. Haney, J. Oberling, Rocco Romano, John D. Scott, A. Boom, B. O'Reilly, P. Gruning, Jade Powell, V. Mangano, H-P Cheng, Eric Oelker, R. A. Mercer, J. Jonker, Jinsook Kim, G. Moreno, C. Pant, David H. Reitze, D. N. Brown, Yi-Ming Hu, A. Bisht, A. Staley, F. Nocera, A. Moggi, J. Ming, Michael L. Gorodetsky, T. Westphal, Ryan Lynch, C. Cannon, C. Coyne, G. Stratta, C. C. Yancey, A. Ain, Alicia M. Sintes, W. Tsang, Swetha Bhagwat, Thibaut Jacqmin, Jesper Munch, J. Vine, D. Buskulic, B. Pang, Achamveedu Gopakumar, A. Callister, S. Jawahar, M. De Laurentis, W. G. Anderson, G. Cella, Dwayne D. Giardina, C. I. Torrie, A. K. Lenon, D. C. Coyne, G. Arun, D. Rosińska, Patrice Hello, C-H. Lee, Matthew Evans, Z. Korth, Giacomo Ciani, Richard J. Abbott, K. Izumi, Hartmut Grote, T. Hardwick, D. Steinmeyer, A. F. Brooks, D. R. Ingram, M. Oliver, Douglas Davis, H. Fair, G. Losurdo, B. P. Abbott, M. Mow-Lowry, E. K. Gustafson, Andrea Taracchini, J. V. van Heijningen, G. Cagnoli, O. Bock, Neil J. Cornish, Eric Thrane, T. D. Creighton, P. Lundgren, S. Vass, S. Privitera, F. Travasso, C. Michel, M. Koehlenbeck, Lionel London, Sarah Caudill, R. Inta, S. Karvinen, R. Coyne, V. Loriette, Fabrice Matichard, S. Klimenko, R. Quitzow-James, V. B. Adya, Francesco Salemi, A. Prodi, A. Effler, A. K. Y. Li, G. Gemme, M. Drago, V. Dolique, I. Dorrington, J. Duncan, Steven Reyes, E. K. Wessel, S. D'Antonio, D. Ugolini, Collin D. Capano, P. Pfeiffer, Guenakh Mitselmakher, B. Adya, B. A. Boom, A. M. Sergeev, E. J. Fauchon-Jones, M. Lormand, J. Massinger, M. Prijatelj, J. Warner, S. B. Coughlin, Jessica Steinlechner, H. Rew, R. Passaquieti, Alexander H. Nitz, C. Rajan, A. Neunzert, J. Bulten, Debnandini Mukherjee, T. Chmiel, M. Heurs, J-Y. Vinet, Reed Essick, G. A. Prodi, R. DeSalvo, S. Kandhasamy, B. Sorazu, D Shoemaker, O. V. Palashov, Sean T. McWilliams, F. Piergiovanni, S. Doravari, L. Lo, J. Cullen, A. Kutynia, T. T. Nguyen, Andrea Chincarini, T. Z. Summerscales, Innocenzo M. Pinto, M. Davier, P. G. Murray, B. Kozak, B. K. Berger, Fabien Kéfélian, J. H. Hough, P. W. F. Forsyth, J. R. Palamos, Michele Zanolin, T. J. Massinger, T. Vo, V. Kalogera, G. D. Hammond, L. Sammut, L. Kuo, H. Yamamoto, E. Capocasa, A. Schönbeck, J. Prasad, Steven Bloemen, Jonathan R. Gair, L. M. Perri, N. A. Lockerbie, Blake Moore, Carlos O. Lousto, Kishora Nayak, Thomas Dent, P. Corban, Vladimir Dergachev, C. Barish, James Whelan, P. Ajith, Andrew Lyne, M. Gabel, Zhihui Du, S. S. Eikenberry, Rosa Poggiani, V. Frey, S. Farinon, P. Raffai, J. Hanks, J. D. Lough, Soma Mukherjee, A. Mercer, H. R. Paris, A. Eisenstein, P. Kumar, B. R. Hall, A. Shaddock, R. Cavalieri, A. K. Srivastava, A. E. Pace, E. G. Thomas, A. Basti, Ryan N. Lang, Jens Birch, Z. Frei, V. Sequino, S. Caride, J.-D. Fournier, Philip F. Hopkins, I. Fiori, J. P. Henry, P. Vyatchanin, M. F. Carney, John Worden, P. Couvares, Archisman Ghosh, Jan Harms, A. S. Sengupta, Satyanarayan Ray Pitambar Mohapatra, Sascha Husa, Matthew Kerr, G. Venugopalan, Meng Wang, D.B. DeBra, Evan Goetz, Aniello Grado, J. M. Newport, T. Theeg, E. Cuoco, A. Gupta, S. Meshkov, Seog Oh, K. G. Arun, X. Guo, K. Siellez, A. Vo, P. Bacon, Daniel E. Holz, P. J. Veitch, B. Patricelli, D. S. Wu, Margaret Millhouse, S. G. Gaonkar, P. Cheng, Haixing Miao, G. Bogaert, L. Wright, K. L. Dooley, Lisa Barsotti, Anirban Dasgupta, K. Venkateswara, P. Zendri, Yuri Levin, Robert Stone, R. J. G. Jonker, M. Isac, A. R. Williamson, A. Cumming, F. Di Renzo, Albrecht Rüdiger, Xing-Jiang Zhu, E. Genin, R. A. Eisenstein, B. J. J. Slagmolen, Hee-Suk Cho, Benjamin Stappers, G. D. Meadors, T. Zelenova, Riccardo Bassiri, Magnus Manske, S. Qiu, E. Maros, A. Lockerbie, F. Baldaccini, L. F. Ortega, M. J. Hart, J. K. Blackburn, A. Sawadsky, E. Chassande-Mottin, Sheila Rowan, S. Kwang, Todd Adams, Felice Sorrentino, D. Moraru, Giuseppe Intini, A. Allocca, F. Vetrano, S. Antier, M. Dovale Álvarez, H. Reitze, S. E. Dwyer, David Keitel, S. J. Cooper, A. Lartaux-Vollard, Suvadeep Bose, R. Gouaty, Z. Márka, Andrew Robertson, B. Lantz, L. Romel, W. Katzman, L. van der Schaaf, S. A. Pai, Cody Messick, C. Whittle, Milan Gupta, C. Kent, G. Mendell, J. Trinastic, M. Ducrot, M. Merzougui, Rebecca Fisher, J. Eichholz, G. P. Newton, A. Bohe, M. Fyffe, Gabriela Gonzalez, K. R. Corley, L. Ward, A.M. Taylor, J. Junker, I. Belahcene, Tania Regimbau, M. M. Hanke, W. Parker, S. B. Anderson, C. Devine, Zachariah B. Etienne, Jennifer Watchi, J. Son, C. Buy, C. Essick, T. P. Downes, P. H. Fisher, M. Pedraza, E. Cesarini, M. Chan, Maria Alessandra Papa, F. Cavalier, N. Bode, Ian P. Jones, J. L. Wright, Alessandra Corsi, J. E. Lord, E. J. Daw, Maurizio Canepa, Paolo Addesso, K. D. Giardina, J. K. Wofford, M. A. Page, Francesco Pannarale, J. S. Lange, A. Rocchi, N. A. Robertson, C. Cocchieri, R. Birney, R. M. S. Schofield, Márton Tápai, David Jonathan Hofman, S. Kissel, Liam Cunningham, A. Noack, Jonathan Blackman, Benjamin J. Owen, G.A. Blair, J. F. J. van den Brand, K. Toland, D. Tuyenbayev, S. Sunil, M. Tacca, Martin Hendry, M. C. Díaz, J. H. Howell, K. V. Tokmakov, Maria Ilaria Del Principe, M. Agathos, C. Horst, Antonios Kontos, Alberto Vecchio, S. Kim, L. Prokhorov, Will M. Farr, Junwei Cao, M. Montani, Nancy Aggarwal, Zahoor Ali Khan, A. Papa, C. Stephens, S. Thorne, L. Dooley, I. Dave, H. Lee, Graham Woan, Robert L. Byer, M. Fletcher, B. Hughey, Stuart Reid, G. Valdes, A. Samajdar, S. Rieger, S. Unnikrishnan, Jacob Scheuer, J. Piccinni, Phil D. C. King, M. Pinto, J.-P. Zendri, Bernard F. Schutz, S. E. Gossan, L. Merilh, Li Ju, Daniel A. Shaddock, C. V. Kalaghatgi, J. Hanson, K. Napier, Guido Mueller, A. Miller, Hang Yu, Michael J. I. Brown, P. Fulda, S. E. Barclay, Ofek Birnholtz, K. Gustafson, Eric Howell, S. Leavey, M. Katolik, L. K. Nuttall, G. Billingsley, S. Macfoy, B. B. Miller, Z. Summerscales, Jong H. Chow, J. Liu, A. Pasqualetti, LIGO, Ecole Superieure de Physique et de Chimie Industrielles de la Ville de Paris (ESPCI Paris), Université Paris sciences et lettres (PSL), Department of Physics [Toronto], University of Toronto, Laboratoire d'Annecy de Physique des Particules (LAPP), Institut National de Physique Nucléaire et de Physique des Particules du CNRS (IN2P3)-Université Savoie Mont Blanc (USMB [Université de Savoie] [Université de Chambéry])-Centre National de la Recherche Scientifique (CNRS), Jet Propulsion Laboratory (JPL), NASA-California Institute of Technology (CALTECH), Paul Scherrer Institute (PSI), Laboratoire de l'Accélérateur Linéaire (LAL), Centre National de la Recherche Scientifique (CNRS)-Institut National de Physique Nucléaire et de Physique des Particules du CNRS (IN2P3)-Université Paris-Sud - Paris 11 (UP11), Max Planck Institute for Gravitational Physics (Albert Einstein Institute) (AEI), Max-Planck-Gesellschaft, AstroParticule et Cosmologie (APC (UMR_7164)), Observatoire de Paris, Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université Paris Diderot - Paris 7 (UPD7)-Centre National de la Recherche Scientifique (CNRS)-Institut National de Physique Nucléaire et de Physique des Particules du CNRS (IN2P3), Department of Physics, Columbia University [New York], Dipartimento di Physica E. Firmi, University of Pisa - Università di Pisa, Max-Planck-Institut für Gravitationsphysik ( Albert-Einstein-Institut ) (AEI), Copernicus Astronomical Center of the Polish Academy of Sciences (CAMK), Polish Academy of Sciences (PAN), Association de Coordination Technique Agricole (ACTA), Instituut voor Sterrenkunde [Leuven], Catholic University of Leuven - Katholieke Universiteit Leuven (KU Leuven), LAboratoire de REcherche en Géodésie [Paris] (LAREG), Laboratoire des Sciences et Technologies de l'Information Géographique (LaSTIG), École nationale des sciences géographiques (ENSG), Institut National de l'Information Géographique et Forestière [IGN] (IGN)-Institut National de l'Information Géographique et Forestière [IGN] (IGN)-École nationale des sciences géographiques (ENSG), Institut National de l'Information Géographique et Forestière [IGN] (IGN)-Institut National de l'Information Géographique et Forestière [IGN] (IGN), Astrophysique Relativiste Théories Expériences Métrologie Instrumentation Signaux (ARTEMIS), Centre National de la Recherche Scientifique (CNRS)-Observatoire de la Côte d'Azur, Université Côte d'Azur (UCA)-COMUE Université Côte d'Azur (2015-2019) (COMUE UCA)-Université Côte d'Azur (UCA)-COMUE Université Côte d'Azur (2015-2019) (COMUE UCA)-Institut national des sciences de l'Univers (INSU - 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Paris (ENS Paris), Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Centre National de la Recherche Scientifique (CNRS), Laboratoire de Physique Nucléaire et de Hautes Énergies (LPNHE (UMR_7585)), Institut National de Physique Nucléaire et de Physique des Particules du CNRS (IN2P3)-Université Paris Diderot - Paris 7 (UPD7)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Met Office Hadley Centre for Climate Change (MOHC), United Kingdom Met Office [Exeter], Unité Scientifique de la Station de Nançay (USN), Centre National de la Recherche Scientifique (CNRS)-Observatoire de Paris, Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Institut national des sciences de l'Univers (INSU - CNRS)-Observatoire des Sciences de l'Univers en région Centre (OSUC), Institut national des sciences de l'Univers (INSU - CNRS)-Observatoire de Paris, Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Université d'Orléans (UO)-Centre National de la Recherche Scientifique (CNRS)-Institut national des sciences de l'Univers (INSU - CNRS)-Observatoire de Paris, Université Paris sciences et lettres (PSL)-Université d'Orléans (UO)-Centre National de la Recherche Scientifique (CNRS)-Université d'Orléans (UO), Science and Engineering Research Board, Royal Society, Australian Research Council, Narodowe Centrum Nauki, Scottish Universities Physics Alliance, Centre National de la Recherche Scientifique, National Science Foundation, Ministry of Science and Technology of the People's Republic of China, Russian Foundation for Basic Research, Conselleria d’Economia i Competitivitat and Conselleria d’Educació, Cultura i Universitats of the Govern de les Illes Balears, Natural Sciences and Engineering Research Council of Canada, Lyon Institute of Origins, Ministry of Human Resource Development, Kavli Foundation, Research Corporation for Science Advancement, European Commission, Instituto Nazionale di Fisica Nucleare, National Research Foundation of Korea, Nederlandse Organisatie voor Wetenschappelijk Onderzoek, Ministério da Ciência, Tecnologia e Inovação, Canadian Institute for Advanced Research, Science and Technology Facilities Council, Leverhulme Trust, Ontario Ministry of Economic Development and Innovation, Ministerio de Economía y Competitividad, Scottish Funding Council, Fundação de Amparo à Pesquisa do Estado de São Paulo, Országos Tudományos Kutatási Alapprogramok, Université Paris-Sud - Paris 11 (UP11)-Institut National de Physique Nucléaire et de Physique des Particules du CNRS (IN2P3)-Centre National de la Recherche Scientifique (CNRS), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Institut National de Physique Nucléaire et de Physique des Particules du CNRS (IN2P3)-Observatoire de Paris, Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Université Paris Diderot - Paris 7 (UPD7)-Centre National de la Recherche Scientifique (CNRS), Les instituts techniques agricoles (Acta), Université Nice Sophia Antipolis (1965 - 2019) (UNS), COMUE Université Côte d'Azur (2015-2019) (COMUE UCA)-COMUE Université Côte d'Azur (2015-2019) (COMUE UCA)-Institut national des sciences de l'Univers (INSU - CNRS)-Observatoire de la Côte d'Azur, COMUE Université Côte d'Azur (2015-2019) (COMUE UCA)-Université Côte d'Azur (UCA)-Université Côte d'Azur (UCA)-Centre National de la Recherche Scientifique (CNRS), Université de Rennes (UR)-Centre National de la Recherche Scientifique (CNRS), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut National de Physique Nucléaire et de Physique des Particules du CNRS (IN2P3)-Centre National de la Recherche Scientifique (CNRS), Fédération de recherche du Département de physique de l'Ecole Normale Supérieure - ENS Paris (FRDPENS), École normale supérieure - Paris (ENS-PSL), Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Centre National de la Recherche Scientifique (CNRS)-École normale supérieure - Paris (ENS-PSL), Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Centre National de la Recherche Scientifique (CNRS)-Université Pierre et Marie Curie - Paris 6 (UPMC)-Centre National de la Recherche Scientifique (CNRS), Observatoire des Sciences de l'Univers en région Centre (OSUC), Université Paris sciences et lettres (PSL)-Université d'Orléans (UO)-Centre National de la Recherche Scientifique (CNRS), Ecole Supérieure de Physique et de Chimie Industrielles (ESPCI), Mairie de Paris, Laboratoire d'Annecy de Physique des Particules (LAPP/Laboratoire d'Annecy-le-Vieux de Physique des Particules), Albert Einstein Institute, Institut National de Physique Nucléaire et de Physique des Particules du CNRS (IN2P3)-Centre National de la Recherche Scientifique (CNRS)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Observatoire de Paris, PSL Research University (PSL)-PSL Research University (PSL)-Université Paris Diderot - Paris 7 (UPD7), APC - Cosmologie, PSL Research University (PSL)-PSL Research University (PSL)-Université Paris Diderot - Paris 7 (UPD7)-Institut National de Physique Nucléaire et de Physique des Particules du CNRS (IN2P3)-Centre National de la Recherche Scientifique (CNRS)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Observatoire de Paris, PSL Research University (PSL)-PSL Research University (PSL)-Université Paris Diderot - Paris 7 (UPD7)-Physique Corpusculaire et Cosmologie - Collège de France (PCC), Collège de France (CdF)-Institut National de Physique Nucléaire et de Physique des Particules du CNRS (IN2P3)-Centre National de la Recherche Scientifique (CNRS)-Collège de France (CdF)-Centre National de la Recherche Scientifique (CNRS), Université Nice Sophia Antipolis (... - 2019) (UNS), Université Côte d'Azur (UCA)-Université Côte d'Azur (UCA)-Institut national des sciences de l'Univers (INSU - CNRS)-Observatoire de la Côte d'Azur, Université Côte d'Azur (UCA)-Centre National de la Recherche Scientifique (CNRS), Université de Lyon-Université de Lyon-Institut National de Physique Nucléaire et de Physique des Particules du CNRS (IN2P3)-Centre National de la Recherche Scientifique (CNRS)-Centre National de la Recherche Scientifique (CNRS), Centre National de la Recherche Scientifique (CNRS)-École normale supérieure - Paris (ENS Paris)-Centre National de la Recherche Scientifique (CNRS)-École normale supérieure - Paris (ENS Paris)-Université Pierre et Marie Curie - Paris 6 (UPMC)-Centre National de la Recherche Scientifique (CNRS), APC - THEORIE, Institut für theoretische Physik, Universität Hamburg (UHH)-Universität Hamburg (UHH)-AstroParticule et Cosmologie (APC (UMR_7164)), Met Office Hadley Centre (MOHC), Abbott, B. P., Abbott, R., Abbott, T. D., Acernese, F., Ackley, K., Adams, C., Adams, T., Addesso, P., Adhikari, R. X., Adya, V. B., Affeldt, C., Afrough, M., Agarwal, B., Agathos, M., Agatsuma, K., Aggarwal, N., Aguiar, O. D., Aiello, L., Ain, A., Ajith, P., Allen, G., Allocca, A., Altin, P. A., Amato, A., Ananyeva, A., Anderson, S. B., Anderson, W. G., Antier, S., Appert, S., Arai, K., Araya, M. C., Areeda, J. S., Arnaud, N., Arun, K. G., Ascenzi, S., Ashton, G., Ast, M., Aston, S. M., Astone, P., Aufmuth, P., Aulbert, C., Aultoneal, K., Avila-Alvarez, A., Babak, S., Bacon, P., Bader, M. K. M., Bae, S., Baker, P. T., Baldaccini, F., Ballardin, G., Ballmer, S. W., Banagiri, S., Barayoga, J. C., Barclay, S. E., Barish, B. C., Barker, D., Barone, F., Barr, B., Barsotti, L., Barsuglia, M., Barta, D., Bartlett, J., Bartos, I., Bassiri, R., Basti, A., Batch, J. C., Baune, C., Bawaj, M., Bazzan, M., Bécsy, B., Beer, C., Bejger, M., Belahcene, I., Bell, A. S., Berger, B. K., Bergmann, G., Berry, C. P. L., Bersanetti, D., Bertolini, A., Betzwieser, J., Bhagwat, S., Bhandare, R., Bilenko, I. A., Billingsley, G., Billman, C. R., Birch, J., Birney, R., Birnholtz, O., Biscans, S., Bisht, A., Bitossi, M., Biwer, C., Bizouard, M. A., Blackburn, J. K., Blackman, J., Blair, C. D., Blair, D. G., Blair, R. M., Bloemen, S., Bock, O., Bode, N., Boer, M., Bogaert, G., Bohe, A., Bondu, F., Bonnand, R., Boom, B. A., Bork, R., Boschi, V., Bose, S., Bouffanais, Y., Bozzi, A., Bradaschia, C., Brady, P. R., Braginsky, V. B., Branchesi, M., Brau, J. E., Briant, T., Brillet, A., Brinkmann, M., Brisson, V., Brockill, P., Broida, J. E., Brooks, A. F., Brown, D. A., Brown, D. D., Brown, N. M., Brunett, S., Buchanan, C. C., Buikema, A., Bulik, T., Bulten, H. J., Buonanno, A., Buskulic, D., Buy, C., Byer, R. L., Cabero, M., Cadonati, L., Cagnoli, G., Cahillane, C., Calderón Bustillo, J., Callister, T. A., Calloni, E., Camp, J. B., Canepa, M., Canizares, P., Cannon, K. C., Cao, H., Cao, J., Capano, C. D., Capocasa, E., Carbognani, F., Caride, S., Carney, M. F., Casanueva Diaz, J., Casentini, C., Caudill, S., Cavaglià, M., Cavalier, F., Cavalieri, R., Cella, G., Cepeda, C. B., Cerboni Baiardi, L., Cerretani, G., Cesarini, E., Chamberlin, S. J., Chan, M., Chao, S., Charlton, P., Chassande-Mottin, E., Chatterjee, D., Cheeseboro, B. D., Chen, H. Y., Chen, Y., Cheng, H. -P., Chincarini, A., Chiummo, A., Chmiel, T., Cho, H. S., Cho, M., Chow, J. H., Christensen, N., Chu, Q., Chua, A. J. K., Chua, S., Chung, A. K. W., Chung, S., Ciani, G., Ciolfi, R., Cirelli, C. E., Cirone, A., Clara, F., Clark, J. A., Cleva, F., Cocchieri, C., Coccia, E., Cohadon, P. -F., Colla, A., Collette, C. G., Cominsky, L. R., Constancio, M., Conti, L., Cooper, S. J., Corban, P., Corbitt, T. R., Corley, K. R., Cornish, N., Corsi, A., Cortese, S., Costa, C. A., Coughlin, M. W., Coughlin, S. B., Coulon, J. -P., Countryman, S. T., Couvares, P., Covas, P. B., Cowan, E. E., Coward, D. M., Cowart, M. J., Coyne, D. C., Coyne, R., Creighton, J. D. E., Creighton, T. D., Cripe, J., Crowder, S. G., Cullen, T. J., Cumming, A., Cunningham, L., Cuoco, E., Canton, T. Dal, Danilishin, S. L., D'Antonio, S., Danzmann, K., Dasgupta, A., Da Silva Costa, C. F., Dattilo, V., Dave, I., Davier, M., Davis, D., Daw, E. J., Day, B., De, S., Debra, D., Degallaix, J., De Laurentis, M., Deléglise, S., Del Pozzo, W., Denker, T., Dent, T., Dergachev, V., De Rosa, Rosario., Derosa, R. T., Desalvo, R., Devenson, J., Devine, R. C., Dhurandhar, S., Díaz, M. C., Di Fiore, L., Di Giovanni, M., Di Girolamo, T., Di Lieto, A., Di Pace, S., Di Palma, I., Di Renzo, F., Doctor, Z., Dolique, V., Donovan, F., Dooley, K. L., Doravari, S., Dorrington, I., Douglas, R., Dovale Álvarez, M., Downes, T. P., Drago, M., Drever, R. W. P., Driggers, J. C., Du, Z., Ducrot, M., Duncan, J., Dwyer, S. E., Edo, T. B., Edwards, M. C., Effler, A., Eggenstein, H. -B., Ehrens, P., Eichholz, J., Eikenberry, S. S., Eisenstein, R. A., Essick, R. C., Etienne, Z. B., Etzel, T., Evans, M., Evans, T. M., Factourovich, M., Fafone, V., Fair, H., Fairhurst, S., Fan, X., Farinon, S., Farr, B., Farr, W. M., Fauchon-Jones, E. J., Favata, M., Fays, M., Fehrmann, H., Feicht, J., Fejer, M. M., Fernandez-Galiana, A., Ferrante, I., Ferreira, E. C., Ferrini, F., Fidecaro, F., Fiori, I., Fiorucci, D., Fisher, R. P., Flaminio, R., Fletcher, M., Fong, H., Forsyth, P. W. F., Forsyth, S. S., Fournier, J. -D., Frasca, S., Frasconi, F., Frei, Z., Freise, A., Frey, R., Frey, V., Fries, E. M., Fritschel, P., Frolov, V. V., Fulda, P., Fyffe, M., Gabbard, H., Gabel, M., Gadre, B. U., Gaebel, S. M., Gair, J. R., Gammaitoni, L., Ganija, M. R., Gaonkar, S. G., Garufi, F., Gaudio, S., Gaur, G., Gayathri, V., Gehrels, N., Gemme, G., Genin, E., Gennai, A., George, D., George, J., Gergely, L., Germain, V., Ghonge, S., Ghosh, Abhirup, Ghosh, Archisman, Ghosh, S., Giaime, J. A., Giardina, K. 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P., Montani, M., Moore, B. C., Moore, C. J., Moraru, D., Moreno, G., Morriss, S. R., Mours, B., Mow-Lowry, C. M., Mueller, G., Muir, A. W., Mukherjee, Arunava, Mukherjee, D., Mukherjee, S., Mukund, N., Mullavey, A., Munch, J., Muniz, E. A. M., Murray, P. G., Napier, K., Nardecchia, I., Naticchioni, L., Nayak, R. K., Nelemans, G., Nelson, T. J. N., Neri, M., Nery, M., Neunzert, A., Newport, J. M., Newton, G., Ng, K. K. Y., Nguyen, T. T., Nichols, D., Nielsen, A. B., Nissanke, S., Nitz, A., Noack, A., Nocera, F., Nolting, D., Normandin, M. E. N., Nuttall, L. K., Oberling, J., Ochsner, E., Oelker, E., Ogin, G. H., Oh, J. J., Oh, S. H., Ohme, F., Oliver, M., Oppermann, P., Oram, Richard J., O'Reilly, B., Ormiston, R., Ortega, L. F., O'Shaughnessy, R., Ottaway, D. J., Overmier, H., Owen, B. J., Pace, A. E., Page, J., Page, M. A., Pai, A., Pai, S. A., Palamos, J. R., Palashov, O., Palomba, C., Pal-Singh, A., Pan, H., Pang, B., Pang, P. T. H., Pankow, C., Pannarale, F., Pant, B. C., Paoletti, F., Paoli, A., Papa, M. A., Paris, H. R., Parker, W., Pascucci, D., Pasqualetti, A., Passaquieti, R., Passuello, D., Patricelli, B., Pearlstone, B. L., Pedraza, M., Pedurand, R., Pekowsky, L., Pele, A., Penn, S., Perez, C. J., Perreca, A., Perri, L. M., Pfeiffer, H. P., Phelps, M., Piccinni, O. J., Pichot, M., Piergiovanni, F., Pierro, V., Pillant, G., Pinard, L., Pinto, I. M., Pitkin, M., Poggiani, R., Popolizio, P., Porter, E. K., Post, A., Powell, J., Prasad, J., Pratt, J. W. W., Predoi, V., Prestegard, T., Prijatelj, M., Principe, M., Privitera, S., Prix, R., Prodi, G. A., Prokhorov, L. G., Puncken, O., Punturo, M., Puppo, P., Pürrer, M., Qi, H., Qin, J., Qiu, S., Quetschke, V., Quintero, E. A., Quitzow-James, R., Raab, F. J., Rabeling, D. S., Radkins, H., Raffai, P., Raja, S., Rajan, C., Rakhmanov, M., Ramirez, K. E., Rapagnani, P., Raymond, V., Razzano, M., Read, J., Regimbau, T., Rei, L., Reid, S., Reitze, D. H., Rew, H., Reyes, S. D., Ricci, F., Ricker, P. M., Rieger, S., Riles, K., Rizzo, M., Robertson, N. A., Robie, R., Robinet, F., Rocchi, A., Rolland, L., Rollins, J. G., Roma, V. J., Romano, R., Romel, C. L., Romie, J. H., Rosińska, D., Ross, M. P., Rowan, S., Rüdiger, A., Ruggi, P., Ryan, K., Sachdev, S., Sadecki, T., Sadeghian, L., Sakellariadou, M., Salconi, L., Saleem, M., Salemi, F., Samajdar, A., Sammut, L., Sampson, L. M., Sanchez, E. J., Sandberg, V., Sandeen, B., Sanders, J. R., Sassolas, B., Sathyaprakash, B. S., Saulson, P. R., Sauter, O., Savage, R. L., Sawadsky, A., Schale, P., Scheuer, J., Schmidt, E., Schmidt, J., Schmidt, P., Schnabel, R., Schofield, R. M. S., Schönbeck, A., Schreiber, E., Schuette, D., Schulte, B. W., Schutz, B. F., Schwalbe, S. G., Scott, J., Scott, S. M., Seidel, E., Sellers, D., Sengupta, A. S., Sentenac, D., Sequino, V., Sergeev, A., Shaddock, D. A., Shaffer, T. J., Shah, A. A., Shahriar, M. S., Shao, L., Shapiro, B., Shawhan, P., Sheperd, A., Shoemaker, D. H., Shoemaker, D. M., Siellez, K., Siemens, X., Sieniawska, M., Sigg, D., Silva, A. D., Singer, A., Singer, L. P., Singh, A., Singh, R., Singhal, A., Sintes, A. M., Slagmolen, B. J. J., Smith, B., Smith, J. R., Smith, R. J. E., Son, E. J., Sonnenberg, J. A., Sorazu, B., Sorrentino, F., Souradeep, T., Spencer, A. P., Srivastava, A. K., Staley, A., Steinke, M., Steinlechner, J., Steinlechner, S., Steinmeyer, D., Stephens, B. C., Stone, R., Strain, K. A., Stratta, G., Strigin, S. E., Sturani, R., Stuver, A. L., Summerscales, T. Z., Sun, L., Sunil, S., Sutton, P. J., Swinkels, B. L., Szczepańczyk, M. J., Tacca, M., Talukder, D., Tanner, D. B., Tápai, M., Taracchini, A., Taylor, J. A., Taylor, R., Theeg, T., Thomas, E. G., Thomas, M., Thomas, P., Thorne, K. A., Thorne, K. S., Thrane, E., Tiwari, S., Tiwari, V., Tokmakov, K. V., Toland, K., Tonelli, M., Tornasi, Z., Torrie, C. I., Töyrä, D., Travasso, F., Traylor, G., Trifirò, D., Trinastic, J., Tringali, M. C., Trozzo, L., Tsang, K. W., Tse, M., Tso, R., Tuyenbayev, D., Ueno, K., Ugolini, D., Unnikrishnan, C. S., Urban, A. L., Usman, S. A., Vahlbruch, H., Vajente, G., Valdes, G., Vallisneri, M., Van Bakel, N., Van Beuzekom, M., Van Den Brand, J. F. J., Van Den Broeck, C., Vander-Hyde, D. C., Van Der Schaaf, L., Van Heijningen, J. V., Van Veggel, A. A., Vardaro, M., Varma, V., Vass, S., Vasúth, M., Vecchio, A., Vedovato, G., Veitch, J., Veitch, P. J., Venkateswara, K., Venugopalan, G., Verkindt, D., Vetrano, F., Viceré, A., Viets, A. D., Vinciguerra, S., Vine, D. J., Vinet, J. -Y., Vitale, S., Vo, T., Vocca, H., Vorvick, C., Voss, D. V., Vousden, W. D., Vyatchanin, S. P., Wade, A. R., Wade, L. E., Wade, M., Walet, R., Walker, M., Wallace, L., Walsh, S., Wang, G., Wang, H., Wang, J. Z., Wang, M., Wang, Y. -F., Wang, Y., Ward, R. L., Warner, J., Was, M., Watchi, J., Weaver, B., Wei, L. -W., Weinert, M., Weinstein, A. J., Weiss, R., Wen, L., Wessel, E. K., Weßels, P., Westphal, T., Wette, K., Whelan, J. T., Whiting, B. F., Whittle, C., Williams, D., Williams, R. D., Williamson, A. R., Willis, J. L., Willke, B., Wimmer, M. H., Winkler, W., Wipf, C. C., Wittel, H., Woan, G., Woehler, J., Wofford, J., Wong, K. W. K., Worden, J., Wright, J. L., Wu, D. S., Wu, G., Yam, W., Yamamoto, H., Yancey, C. C., Yap, M. J., Yu, Hang, Yu, Haocun, Yvert, M., Zadrożny, A., Zanolin, M., Zelenova, T., Zendri, J. -P., Zevin, M., Zhang, L., Zhang, M., Zhang, T., Zhang, Y. -H., Zhao, C., Zhou, M., Zhou, Z., Zhu, S. J., Zhu, X. J., Zucker, M. E., Zweizig, J., Buchner, S., Cognard, I., Corongiu, A., Freire, P. C. C., Guillemot, L., Hobbs, G. B., Kerr, M., Lyne, A. G., Possenti, A., Ridolfi, A., Shannon, R. M., Stappers, B. W., Weltevrede, P., The LIGO Scientific Collaboration, The Virgo Collaboration, and (Astro)-Particles Physics
Subjects: Gravitational-wave observatory, Astronomy, Speed of gravity, General Physics and Astronomy, Tensors, stochastic gravitational-wave, 01 natural sciences, General Relativity and Quantum Cosmology, Strain, Gravitational field, gravitational waves, LIGO, Linearized gravity, Directed searches, TOOL, Theory of gravity, QC, QB, Physics, [PHYS]Physics [physics], non-tensorial, Gravitational effects, article, Rotational frequency, Upper limits, Classical mechanics, Gravitational redshift, General Relativity, General relativity, Gravitational waves, pulsars, non-tensorial, FOS: Physical sciences, General Relativity and Quantum Cosmology (gr-qc), Gravity waves, Gravitational waves, Relativity, Physics and Astronomy (all), 0103 physical sciences, ddc:530, Tensor polarization, 010306 general physics, Pulsars, polarization, 010308 nuclear & particles physics, Gravitational wave, 530 Physik, Nonsymmetric gravitational theory, gravity, Physics and Astronomy, [SDU]Sciences of the Universe [physics], Dewey Decimal Classification::500 | Naturwissenschaften::530 | Physik, [PHYS.ASTR]Physics [physics]/Astrophysics [astro-ph]
Abstract: We present results from the first directed search for nontensorial gravitational waves. While general relativity allows for tensorial (plus and cross) modes only, a generic metric theory may, in principle, predict waves with up to six different polarizations. This analysis is sensitive to continuous signals of scalar, vector or tensor polarizations, and does not rely on any specific theory of gravity. After searching data from the first observation run of the advanced LIGO detectors for signals at twice the rotational frequency of 200 known pulsars, we find no evidence of gravitational waves of any polarization. We report the first upper limits for scalar and vector strains, finding values comparable in magnitude to previously-published limits for tensor strain. Our results may be translated into constraints on specific alternative theories of gravity., Comment: journal version
Published: 2018
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59. Foot measures in patients with pes cavus with and without charcot-marie-tooth disease: A pilot study

Author: Amro M, Stino, Said, Atway, Michael, Anthony, David, Kline, and John T, Kissel
Subjects: Adult, Cohort Studies, Male, Young Adult, Adolescent, Charcot-Marie-Tooth Disease, Foot, Talipes Cavus, Humans, Female, Pilot Projects, Toes, Myelin Proteins
Abstract: Pes cavus often signals the presence of Charcot-Marie-Tooth (CMT) in adult patients, although its prevalence in the general population makes it a finding of unclear significance.We undertook a pilot double cohort study to investigate the feasibility of comparing preselected bedside and radiographic foot measures in pes cavus patients with and without CMT.A total of 16 CMT and 11 non-CMT patients were recruited. Although no findings consistently met statistical significance, recruitment was highly limiting.Formalized foot measurement comparisons of CMT and non-CMT pes cavus are feasible. Larger studies will be necessary to determine if there are differences in foot structure based on the presence of a hereditary neuropathy. Muscle Nerve 59:122-125, 2019.
Published: 2018

60. Subcutaneous immunoglobulin for maintenance treatment in chronic inflammatory demyelinating polyneuropathy (PATH) : a randomised, double-blind, placebo-controlled, phase 3 trial

Author: Michael Schroeter, Mazen M. Dimachkie, J. Zschuentssch, Takuya Ohkubo, Kenichi Kaida, M. Bednar, M. Tomiyama, J. Sussova, D. Mueller, E. Chi-Ho Lai, Nicolette C. Notermans, Toomas Toomsoo, C. D'Amour, J. Haas, B. Murinson, Masahiro Mori, Richard A. Lewis, Masayuki Baba, Anne D. Sperfeld, Vivian E. Drory, Hans-Peter Hartung, J. Demeestere, Satoshi Kuwabara, Leslie Roberts, S. Mumfrey, David Gosal, Katrin Gross-Paju, M. Zibetti, Martin Vališ, Filip Eftimov, David Yarnitsky, D. Aufauvre, G. Le Masson, Takashi Kanda, Lisa D. Hobson-Webb, I. Melamed, Alexander Shtilbans, Inna Rubanovits, P. MacDonald, Janneke G. J. Hoeijmakers, Vera Bril, Ericka Simpson, Orell Mielke, Michaela Praus, Martin Stangel, Masahiro Iijima, Richard J. Barohn, Robert D. Henderson, P. Baum, Mari Auranen, David Walk, Said R. Beydoun, A. Jaspert-Grehl, Alessandro Testori, Giovanni Antonini, Ingemar S. J. Merkies, Sabrina Matà, A. Di Muzio, Ivo N. van Schaik, T. Kalous, Josep Gamez, Juliane Klehmet, Dario Cocito, Angelo Schenone, R. Carne, P. Kunc, Dale J. Lange, Miriam Freimer, S. Muley, Norman Latov, T. Rao, Jens Ejbye Schmidt, Jasper M. Morrow, Ari Breiner, C. Marquez Infante, C. G. Faber, U. Chyrchel-Paszkiewicz, Anne-Cécile Wielanek-Bachelet, Russell L. Chin, John-Philip Lawo, I. N. van Schaik, C. Goerlitz, M. Chatzopoulos, Tim Hagenacker, Claudia Sommer, H. Johl, D. Kramer, Stefania Morino, R. Yoon, Daniela M. Menichella, M. Alberti Aguiló, K. Nishiyama, Daniele Cazzato, F. Bethke, Helmar C. Lehmann, Konrad Rejdak, T. Lavin, Kazumasa Yokoyama, Olaf Hoffmann, M. Kawai, C. Casanovas Pons, Sandro Sorbi, Takanori Yokota, Nora A. Visser, R. Talab, Eroboghene E. Ubogu, Florian Then Bergh, Stefan Blum, Ginna Gonzalez, J. Oechtering, David R. Cornblath, F. Ciccocioppo, A. Sabet, Fabian Klostermann, Nan van Geloven, K. George, A. Kutschenko, S. Benitez Rivero, Karissa L. Gable, Michael P. Lunn, Senda Ajroud-Driss, Shahram Attarian, Marina Grandis, P. Van Damme, C. Trebst, Jeffrey A. Allen, A. Algom, H. Onoue, D. Liebetanz, Billie L. Durn, Maria Salvado Figueras, Jean Pouget, Emilien Delmont, Khema Sharma, Gen Sobue, K. Ohyama, John T. Kissel, K. Kanai, Tsugio Akutsu, Pierre Clavelou, Andreas Meisel, Giuseppe Lauria, M. Saarela, S. Larue, R. Gold, U. Sorro, Shafeeq Ladha, Claude Desnuelle, P. Berlit, Neurologian yksikkö, Clinicum, HUS Neurocenter, ANS - Neuroinfection & -inflammation, AII - Inflammatory diseases, Other departments, Neurology, AII - Amsterdam institute for Infection and Immunity, Hagenacker, Tim (Beitragende*r), and RS: MHeNs - R1 - Cognitive Neuropsychiatry and Clinical Neuroscience
Subjects: 0301 basic medicine, Male, SATISFACTION, Clinical Trial, Phase III, Medizin, Chronic inflammatory demyelinating polyneuropathy, THERAPY, 3124 Neurology and psychiatry, law.invention, MUSCLE STRENGTH, 0302 clinical medicine, Randomized controlled trial, Quality of life, law, QUALITY-OF-LIFE, Chronic Inflammatory Demyelinating, Subcutaneous, Absolute risk reduction, IGG SELF-INFUSIONS, Middle Aged, Clinical Trial, 3. Good health, Randomized Controlled Trial, POLYRADICULONEUROPATHY, Female, aged, double-blind method, female, humans, immunoglobulins, immunologic factors, injections, subcutaneous, male, middle aged, polyradiculoneuropathy, chronic inflammatory demyelinating, outcome assessment (health care), neurology (clinical), medicine.medical_specialty, Injections, Subcutaneous, Clinical Neurology, Immunoglobulins, CIDP, Placebo, Injections, 03 medical and health sciences, Outcome Assessment (Health Care), Phase III, Double-Blind Method, Internal medicine, medicine, Journal Article, Humans, Immunologic Factors, HOME, Adverse effect, Aged, business.industry, ICE, 3112 Neurosciences, Polyradiculoneuropathy, medicine.disease, Surgery, Clinical trial, 030104 developmental biology, Polyradiculoneuropathy, Chronic Inflammatory Demyelinating, PRIMARY ANTIBODY DEFICIENCIES, Neurology (clinical), business, 030217 neurology & neurosurgery
Abstract: Mika Saarela työryhmän jäsenenä. Background Approximately two-thirds of patients with chronic inflammatory demyelinating polyneuropathy (CIDP) need long-term intravenous immunoglobulin. Subcutaneous immunoglobulin (SCIg) is an alternative option for immunoglobulin delivery, but has not previously been investigated in a large trial of CIDP. The PATH study compared relapse rates in patients given SCIg versus placebo. Methods Between March 12, 2012, and Sept 20, 2016, we studied patients from 69 neuromuscular centres in North America, Europe, Israel, Australia, and Japan. Adults with definite or probable CIDP who responded to intravenous immunoglobulin treatment were eligible. We randomly allocated participants to 0.2 g/kg or 0.4 g/kg of a 20% SCIg solution (IgPro20) weekly versus placebo (2% human albumin solution) for maintenance treatment for 24 weeks. We did randomisation in a 1: 1:1 ratio with an interactive voice and web response system with a block size of six, stratified by region (Japan or non-Japan). The primary outcome was the proportion of patients with a CIDP relapse or who were withdrawn for any other reason during 24 weeks of treatment. Patients, caregivers, and study personnel, including those assessing outcomes, were masked to treatment assignment. Analyses were done in the intention-to-treat and per-protocol sets. This trial is registered with ClinicalTrials. gov, number NCT01545076. Findings In this randomised, double-blind, placebo-controlled trial, we randomly allocated 172 patients: 57 (33%) to the placebo group, 57 (33%) to the low-dose group, and 58 (34%) to the high-dose group. In the intention-to-treat set, 36 (63% [95% CI 50-74]) patients on placebo, 22 (39% [27-52]) on low-dose SCIg, and 19 (33% [22-46]) on high-dose SCIg had a relapse or were withdrawn from the study for other reasons (p=0.0007). Absolute risk reductions were 25% (95% CI 6-41) for low-dose versus placebo (p=0.007), 30% (12-46) for high-dose versus placebo (p=0.001), and 6% (-11 to 23) for high-dose versus low-dose (p=0.32). Causally related adverse events occurred in 47 (27%) patients (ten [18%] in the placebo group, 17 [30%] in the low-dose group, and 20 [34%] in the high-dose group). Six (3%) patients had 11 serious adverse events: one (2%) patient in the placebo group, three (5%) in the low-dose group, and two (3%) in the high-dose group; only one (an acute allergic skin reaction in the low-dose group) was assessed to be causally related. Interpretation This study, which is to our knowledge, the largest trial of CIDP to date and the first to study two administrations of immunoglobulins and two doses, showed that both doses of SCIg IgPro20 were efficacious and well tolerated, suggesting that SCIg can be used as a maintenance treatment for CIDP.
Published: 2018

61. Evidence-based guideline summary: Evaluation, diagnosis, and management of facioscapulohumeral muscular dystrophy

Author: Michael Benatar, Rabi Tawil, Gary S. Gronseth, Shree Pandya, Chad Heatwole, and John T. Kissel
Subjects: musculoskeletal diseases, congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, Neurology, medicine.diagnostic_test, Hearing loss, business.industry, MEDLINE, Disease Management, medicine.disease, Muscular Dystrophy, Facioscapulohumeral, nervous system diseases, Special Article, medicine, Physical therapy, Humans, Facioscapulohumeral muscular dystrophy, Neurology (clinical), Muscular dystrophy, medicine.symptom, Audiometry, Disease management (health), business, Intensive care medicine, Genetic testing
Abstract: Objective: To develop recommendations for the evaluation, diagnosis, prognostication, and treatment of facioscapulohumeral muscular dystrophy (FSHD) from a systematic review and analysis of the evidence. Methods: Relevant articles were analyzed in accordance with the American Academy of Neurology classification of evidence schemes for diagnostic, prognostic, and treatment studies. Recommendations were linked to the strength of the evidence and other factors. Results and recommendations: Available genetic testing for FSHD type 1 is highly sensitive and specific. Although respiratory insufficiency occurs rarely in FSHD, patients with severe FSHD should have routine pulmonary function testing. Routine cardiac screening is not necessary in patients with FSHD without cardiac symptoms. Symptomatic retinal vascular disease is very rare in FSHD. Exudative retinopathy, however, is potentially preventable, and patients with large deletions should be screened through dilated indirect ophthalmoscopy. The prevalence of clinically relevant hearing loss is not clear. In clinical practice, patients with childhood-onset FSHD may have significant hearing loss. Because undetected hearing loss may impair language development, screening through audiometry is recommended for such patients. Musculoskeletal pain is common in FSHD and treating physicians should routinely inquire about pain. There is at present no effective pharmacologic intervention in FSHD. Available studies suggest that scapular fixation is safe and effective. Surgical scapular fixation might be cautiously offered to selected patients. Aerobic exercise in FSHD appears to be safe and potentially beneficial. On the basis of the evidence, patients with FSHD might be encouraged to engage in low-intensity aerobic exercises.
Published: 2015
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62. Laboratory evaluation of suspected motor neuron disease: A survey of physicians

Author: John T. Kissel, John Novak, Stephen J. Kolb, Alan Sanderson, and Steven M. Nash
Subjects: Response rate (survey), medicine.medical_specialty, education.field_of_study, Neurology, Physiology, business.industry, Population, Thyroid, Spinal muscular atrophy, Disease, medicine.disease, Cellular and Molecular Neuroscience, medicine.anatomical_structure, Physiology (medical), Internal medicine, medicine, Physical therapy, Neurology (clinical), Amyotrophic lateral sclerosis, business, education, Prospective cohort study
Abstract: Introduction The clinical diagnosis of amyotrophic lateral sclerosis (ALS) relies on exclusion of mimic syndromes, but there are no specific guidelines regarding the extent of laboratory testing required. Methods A survey was sent to 274 physicians listed in the Neuromuscular Section of the American Academy of Neurology. The survey asked how often they order 21 different laboratory tests in patients suspected of having ALS. Results Ninety-nine responses were received (36% response rate). Greater than 75% ordered serum creatine kinase, chemistry panel, and thyroid functions often or always. Fewer than 25% tested for serum complement, hexosaminidase A, spinal muscular atrophy, Kennedy disease, heavy metals, or human T-cell lymphotrophic virus often or always. Twelve other tests had intermediate responses. Conclusions There is a lack of consensus among respondents regarding the laboratory evaluation of suspected ALS. Prospective studies are needed to define the diagnostic yield and cost-effectiveness of laboratory testing in this population. Muscle Nerve 52: 83–87, 2015
Published: 2015
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63. Defective fast inactivation recovery of Nav1.4 in congenital myasthenic syndrome

Author: W. David Arnold, Liuyuan He, Darine Kassar, John T. Kissel, Christoph Lossin, Daniel H. Feldman, Tara L. Klassen, Sandra Ramirez, Joanna Nguyen, Marian Lara, Ricardo A. Maselli, and Adam Quick
Subjects: medicine.medical_specialty, Sodium channel, Wild type, Skeletal muscle, Hyperpolarization (biology), Biology, Congenital myasthenic syndrome, Muscle disorder, medicine.disease, Cell biology, Endocrinology, medicine.anatomical_structure, Neurology, Paramyotonia congenita, Internal medicine, medicine, Neurology (clinical), Hyperkalemic periodic paralysis
Abstract: Objective To describe the unique phenotype and genetic findings in a 57-year-old female with a rare form of congenital myasthenic syndrome (CMS) associated with longstanding muscle fatigability, and to investigate the underlying pathophysiology. Methods We used whole-cell voltage clamping to compare the biophysical parameters of wild-type and Arg1457His-mutant Nav 1.4. Results Clinical and neurophysiological evaluation revealed features consistent with CMS. Sequencing of candidate genes indicated no abnormalities. However, analysis of SCN4A, the gene encoding the skeletal muscle sodium channel Nav 1.4, revealed a homozygous mutation predicting an arginine-to-histidine substitution at position 1457 (Arg1457His), which maps to the channel's voltage sensor, specifically D4/S4. Whole-cell patch clamp studies revealed that the mutant required longer hyperpolarization to recover from fast inactivation, which produced a profound use-dependent current attenuation not seen in the wild type. The mutant channel also had a marked hyperpolarizing shift in its voltage dependence of inactivation as well as slowed inactivation kinetics. Interpretation We conclude that Arg1457His compromises muscle fiber excitability. The mutant fast-inactivates with significantly less depolarization, and it recovers only after extended hyperpolarization. The resulting enhancement in its use dependence reduces channel availability, which explains the patient's muscle fatigability. Arg1457His offers molecular insight into a rare form of CMS precipitated by sodium channel inactivation defects. Given this channel's involvement in other muscle disorders such as paramyotonia congenita and hyperkalemic periodic paralysis, our study exemplifies how variations within the same gene can give rise to multiple distinct dysfunctions and phenotypes, revealing residues important in basic channel function.
Published: 2015
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64. The clinical spectrum of isolated peripheral motor dysfunction

Author: Bakri Elsheikh, John T. Kissel, W. David Arnold, and Alan Sanderson
Subjects: Pathology, medicine.medical_specialty, Motor dysfunction, Physiology, business.industry, Progressive muscular atrophy, medicine.disease, Lower motor neuron, Peripheral, Cellular and Molecular Neuroscience, medicine.anatomical_structure, Physiology (medical), medicine, Neurology (clinical), Peripheral Nerve Disorders, Amyotrophic lateral sclerosis, Differential diagnosis, business, human activities, Neuroscience, Multifocal motor neuropathy
Abstract: Introduction Isolated peripheral motor dysfunction due to lower motor neuron or peripheral nerve disorders presents an interesting challenge to clinicians because of the diverse differential diagnosis with a broad range of prognoses.
Published: 2015
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65. Spinal Muscular Atrophy Biomarker Measurements from Blood Samples in a Clinical Trial of Valproic Acid in Ambulatory Adults

Author: Mark R. Parthun, Thomas W. Prior, John T. Kissel, Michael A. Freitas, Daniel J. Battle, Bakri Elsheikh, Louise R. Simard, Allison M. Wehr, Hongyang Pi, Stephen J. Kolb, Samantha R. Renusch, Kathryn J. Swoboda, Sean W. Harshman, Eileen Workman, and Xiaobai Li
Subjects: Oncology, Research Report, medicine.medical_specialty, Pathology, survival motor neuron protein, Placebo, Internal medicine, Valproic acid, Medicine, spinal muscular atrophy, Valproic Acid, business.industry, Spinal muscular atrophy, Biomarker, SMA, medicine.disease, Crossover study, 3. Good health, Clinical trial, Neurology, Pharmacodynamics, histone deacetylase, Biomarker (medicine), lipids (amino acids, peptides, and proteins), Neurology (clinical), business, medicine.drug
Abstract: Background: Clinical trials of therapies for spinal muscular atrophy (SMA) that are designed to increase the expression the SMN protein ideally include careful assessment of relevant SMN biomarkers. Objective: In the SMA VALIANT trial, a recent double-blind placebo-controlled crossover study of valproic acid (VPA) in ambulatory adult subjects with SMA, we investigated relevant pharmacodynamic biomarkers in blood samples from SMA subjects by direct longitudinal measurement of histone acetylation and SMN mRNA and protein levels in the presence and absence of VPA treatment. Methods: Thirty-three subjects were randomized to either VPA or placebo for the first 6 months followed by crossover to the opposite arm for an additional 6 months. Outcome measures were compared between the two treatments (VPA and placebo) using a standard crossover analysis. Results: A significant increase in histone H4 acetylation was observed with VPA treatment (p = 0.005). There was insufficient evidence to suggest a treatment effect with either full length or truncated SMN mRNA transcript levels or SMN protein levels. Conclusions: These measures were consistent with the observed lack of change in the primary clinical outcome measure in the VALIANT trial. These results also highlight the added benefit of molecular and pharmacodynamic biomarker measurements in the interpretation of clinical trial outcomes.
Published: 2015

66. ALSUntangled: Introducing The Table of Evidence

Author: Hubert Kwieciński, Dan Moore, Gary L. Pattee, Edor Kabashi, Chafic Karam, James Caress, Ashok Verma, Brett M. Morrison, Mieko Ogino, George Sachs, Orla Hardiman, Bonnie Gerecke, Vivian E. Drory, Hiroshi Mitsumoto, Gleb Levitsky, Josep Gamez, James Heywood, Nazem Atassi, Michael D. Weiss, Jeffrey V. Rosenfeld, Colin Quinn, Kathy Mitchell, Robin Conwit, Steven Novella, Mark B. Bromberg, Lewis P. Rowland, Jerry M. Belsh, Michael J. Strong, Todd Levine, Jonathan D. Glass, Yunxia Wang, Carlayne E. Jackson, Jon Baker, Muddasir Quereshi, Melanie Leitner, David Saperstein, Carmel Armon, Leo McClusky, Jonathan Licht, Terry Heiman-Patterson, Dallas Forshew, Laurie Gutmann, Pamela Kittrell, Jonathan Goldstein, Khema Sharma, Alexander Sherman, Efrat Carmi, Tahseen Mozaffar, James A. Russell, Merit Cudkowicz, Meraida Polak, Lorne Zinman, Michael Benatar, Jim Wymer, Christina Fournier, Noah Lechtzin, Eric Valor, Mazen M. Dimachkie, Steve Kolb, Megan Grosso, Katherine Tindall, Gregory T. Carter, Stacy A. Rudnicki, Lyle Ostrow, Eric J. Sorenson, Jeffrey D. Rothstein, Robert Bowser, Bjorn Oskarsson, Rup Tandan, Catherine Lomen-Hoerth, Daniel MacGowan, Peter M Andersen, Kate Dalton, Daniel M. Pastula, Craig Oster, Paul Wicks, Richard Bedlack, Michael H. Rivner, Nicholas J. Maragakis, John Ravits, Erik P. Pioro, Christen Shoesmith, John T. Kissel, Tulio E. Bertorini, Jeremy M. Shefner, Paul E. Barkhaus, Kevin Boylan, Jeff Dietz, Ginna Gonzalez, Sith Sathornsumetee, Larry Phillips, Steven Nash, Robert G. Miller, Janice Robertson, and Lisa Kinsley
Subjects: PubMed, medicine.medical_specialty, Evidence-Based Medicine, Physical medicine and rehabilitation, Neurology, business.industry, Amyotrophic Lateral Sclerosis, Humans, Medicine, Table (landform), Neurology (clinical), business
Published: 2014
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67. Spinal muscular atrophy: Diagnosis and management in a new therapeutic era

Author: Darine Kassar, W. David Arnold, and John T. Kissel
Subjects: Denervation, Muscle biopsy, medicine.diagnostic_test, Physiology, business.industry, Genetic enhancement, Electromyography, SMN1, Spinal muscular atrophy, Motor neuron, SMA, medicine.disease, nervous system diseases, Cellular and Molecular Neuroscience, medicine.anatomical_structure, nervous system, Physiology (medical), medicine, Neurology (clinical), business, Neuroscience
Abstract: Spinal muscular atrophy (SMA) describes a group of disorders associated with spinal motor neuron loss. In this review we provide an update regarding the most common form of SMA, proximal or 5q-SMA, and discuss the contemporary approach to diagnosis and treatment. Electromyography and muscle biopsy features of denervation were once the basis for diagnosis, but molecular testing for homozygous deletion or mutation of the SMN1 gene allows efficient and specific diagnosis. In combination with loss of SMN1, patients retain variable numbers of copies of a second similar gene, SMN2, which produces reduced levels of the survival motor neuron (SMN) protein that are insufficient for normal motor neuron function. Despite the fact that understanding of how ubiquitous reduction of SMN protein leads to motor neuron loss remains incomplete, several promising therapeutics are now being tested in early-phase clinical trials.
Published: 2014
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68. ALSUntangled No. 35: Hyperbaric Oxygen Therapy*

Author: Lisa Kinsley, Christen Shoesmith, Steven Nash, Peter M Andersen, John T. Kissel, Daniel M. Pastula, Josep Gamez, Nicholas J. Maragakis, Michael H. Rivner, Michael D. Weiss, Jeffrey V. Rosenfeld, James A. Russell, Kathy Mitchell, Steve Kolb, Melanie Leitner, Jim Wymer, Larry Phillips, Jon Baker, Jeffrey D. Rothstein, Erik P. Pioro, Katherine Tindall, Khema Sharma, Stacy A. Rudnicki, Jonathan D. Glass, James Caress, Janice Robertson, Meraida Polak, Tulio E. Bertorini, Paul Wicks, Yunxia Wang, Carlayne E. Jackson, L. P. Rowland, Megan Grosso, Bjorn Oskarsson, Carmel Armon, Leo McClusky, David Saperstein, Lorne Zinman, Laurie Gutmann, Gregory T. Carter, Robert Bowser, Gary L. Pattee, Kristiana Salmon, Brett M. Morrison, Richard Bedlack, Fernando G. Vieira, Orla Hardiman, Edor Kabashi, Sith Sathornsumetee, Vivian E. Drory, Jeremy M. Shefner, Emma Fixsen, Robert G. Miller, Steve Perrin, Michael Benatar, Hiroshi Mitsumoto, Alexander Sherman, Colin Quinn, Todd Levine, Neta Zach, Christina Fournier, Jonathan Goldstein, Lyle Ostrow, Mark Bromberg, Terry Heiman-Patterson, Dallas Forshew, Steven Novella, Mieko Ogino, George Sachs, John Ravits, Dan Moore, James Heywood, Merit Cudkowicz, Noah Lechtzin, Catherine Lomen-Hoerth, Daniel MacGowan, Kate Dalton, Ashok Verma, Yvonne Baker, Muddasir Quereshi, Kevin Boylan, Pamela Kittrell, Gleb Levitsky, Eric J. Sorenson, Robin Conwit, Rob Goldstein, Eric Valor, Rup Tandan, Nazem Atassi, Ahmad Ghavanini, Paul E. Barkhaus, Ginna Gonzalez, Efrat Carmi, Tahseen Mozaffar, Chafic Karam, Mazen M. Dimachkie, Michael J. Strong, Jonathan Licht, and Bonnie Gerecke
Subjects: Complementary Therapies, Male, 0301 basic medicine, Mice, Mice, Neurologic Mutants, 03 medical and health sciences, Clinical Trials, Phase II as Topic, 0302 clinical medicine, Hyperbaric oxygen, Animals, Humans, Medicine, Single-Blind Method, Amyotrophic lateral sclerosis, Hyperbaric Oxygenation, Clinical Trials, Phase I as Topic, business.industry, Amyotrophic Lateral Sclerosis, medicine.disease, Disease Models, Animal, Oxidative Stress, Treatment Outcome, 030104 developmental biology, Neurology, Anesthesia, Neurology (clinical), business, 030217 neurology & neurosurgery
Published: 2016
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69. Correlation of single-breath count test and neck flexor muscle strength with spirometry in myasthenia gravis

Author: W. David Arnold, Shahram Gharibshahi, Jerold Reynolds, Miriam Freimer, John T. Kissel, and Bakri Elsheikh
Subjects: Spirometry, medicine.medical_specialty, Vital capacity, medicine.diagnostic_test, Physiology, Cross-sectional study, business.industry, medicine.medical_treatment, Respiratory therapist, 030208 emergency & critical care medicine, Gold standard (test), medicine.disease, Myasthenia gravis, 03 medical and health sciences, Cellular and Molecular Neuroscience, FEV1/FVC ratio, 0302 clinical medicine, Physiology (medical), Anesthesia, medicine, Physical therapy, Respiratory function, Neurology (clinical), business, 030217 neurology & neurosurgery
Abstract: Introduction: Although formal spirometry is the gold standard for monitoring respiratory function in patients with myasthenia gravis (MG), such testing is often delayed or unavailable. There is a need for a simple bedside test that can accurately measure respiratory function. Methods: We conducted a prospective, cross-sectional, single-blind study in adults with acetylcholine receptor antibody positive MG. Participants performed the single breath count test (SBCT) and underwent manual muscle strength testing, and a respiratory therapist performed spirometry blinded to SBCT and strength results. Results : Thirty-one patients, aged 57 ± 19 years participated. SBCT showed significant correlations with forced vital capacity (FVC), negative inspiratory force, and neck flexor strength (P
Published: 2015
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70. ALSUntangled 41: 'Eric Is Winning'

Author: Paul E. Barkhaus, Yvonne Baker, Carlayne E. Jackson, Martina Wiedau, Fernando G. Vieira, Michael H. Rivner, Larry Phillips, Stephen J. Kolb, Terry Heiman-Patterson, Kristiana Salmon, Paul Wicks, Richard Bedlack, Eric Valor, John T. Kissel, Gleb Levitsky, Lucie Bruijn, Meraida Polak, Gregory Ringkamp, Mark B. Bromberg, Nicholas J. Maragakis, Carmel Armon, Laurie Gutmann, Michael Benatar, Gregory T. Carter, Kathy Mitchell, Sabrina Paganoni, Jonathan D. Glass, Jeff Rothstein, Tulio E. Bertorini, Lyle Ostrow, and James Caress
Subjects: 0301 basic medicine, Aged, 80 and over, Male, medicine.medical_specialty, business.industry, Amyotrophic Lateral Sclerosis, Brain, medicine.disease, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, Physical medicine and rehabilitation, Neurology, Spinal Cord, medicine, Disease Progression, Humans, Neurology (clinical), Amyotrophic lateral sclerosis, Age of Onset, business, 030217 neurology & neurosurgery
Published: 2017

71. Clinical trial of L-Carnitine and valproic acid in spinal muscular atrophy type I

Author: Kristin J, Krosschell, John T, Kissel, Elise L, Townsend, Sarah D, Simeone, Ren Zhe, Zhang, Sandra P, Reyna, Thomas O, Crawford, Mary K, Schroth, Gyula, Acsadi, Priya S, Kishnani, Jürgen-Christoph, Von Kleist-Retzow, Barbara, Hero, Guy, D'Anjou, Edward C, Smith, Bakri, Elsheikh, Louise R, Simard, Thomas W, Prior, Charles B, Scott, Bernard, Lasalle, Ai, Sakonju, Brunhilde, Wirth, and Kathryn J, Swoboda
Subjects: Male, GABA Agents, Valproic Acid, Action Potentials, Infant, Spinal Muscular Atrophies of Childhood, Respiration, Artificial, Survival Analysis, Cohort Studies, Treatment Outcome, Carnitine, Vitamin B Complex, Humans, Drug Therapy, Combination, Female, Negative Results, Retrospective Studies
Abstract: The aim of this study was to determine the safety and therapeutic potential of L-carnitine and valproic acid (VPA) in infants with spinal muscular atrophy (SMA).Our investigation was an open-label phase 2 multicenter trial of L-carnitine and VPA in infants with SMA type I with retrospective comparison to an untreated, matched cohort. Primary outcomes were: safety and adverse events; secondary outcomes were survival, time to death/16 hours/day of ventilator support; motor outcomes; and maximum ulnar compound motor action potential amplitude.A total of 245 AEs were observed in 35 of the 37 treated subjects (95%). Respiratory events accounted for 49% of all adverse events, resulting in 14 deaths. Survival was not significantly different between treated and untreated cohorts.This trial provides evidence that, in infants with SMA type I, L-carnitine/VPA is ineffective at altering survival. The substantial proportion of infants reaching end-points within 6 months of enrollment underscores the urgent need for pre-symptomatic treatment in SMA type I. Muscle Nerve 57: 193-199, 2018.
Published: 2017

72. Pregnancy and delivery in women with spinal muscular atrophy

Author: Sandra P. Reyna, Sharon Chelnick, Stephen J. Kolb, Xiaoli Zhang, Kathryn J. Swoboda, John T. Kissel, and Bakri Elsheikh
Subjects: Adult, medicine.medical_specialty, Weakness, Preterm labor, Muscular Atrophy, Spinal, 03 medical and health sciences, Young Adult, 0302 clinical medicine, Obstetric Labor, Premature, Pregnancy, medicine, Humans, Aged, 030219 obstetrics & reproductive medicine, Obstetrics, business.industry, Cesarean Section, General Neuroscience, General Medicine, Spinal muscular atrophy, Middle Aged, medicine.disease, SMA, Delivery complications, Pregnancy Complications, Cross-Sectional Studies, Cohort, Physical therapy, Female, medicine.symptom, business, 030217 neurology & neurosurgery
Abstract: Objectives: To expand the limited available knowledge about pregnancy and delivery in women with spinal muscular atrophy (SMA) using a cohort of genetically proven SMA patients from USA. Methods: This was a cross-sectional questionnaire-based study. We mailed questionnaires to 58 women with confirmed SMA. Results: Thirty-two women responded, reporting 35 pregnancies, including 19 women with at least one pregnancy. In this cohort, preterm labor and delivery by cesarean section were more common in mothers with SMA particularly SMA type 2. Seventy-four percent of mothers reported increased weakness during pregnancy that persisted after delivery in 42%. SMA mothers generally had a positive experience and good outcomes and elected to have more than one pregnancy. Conclusion: This information regarding pregnancy in women with genetically confirmed 5q SMA will prove useful in guiding future research and in providing counseling to women with SMA.
Published: 2017

73. Contributors

Author: Gregory S. Aaen, Nicholas Scott Abend, Amal Abou-Hamden, Jeffrey C. Allen, Anthony A. Amato, Catherine Amlie-Lefond, Stephen Ashwal, Russell C. Bailey, James F. Bale, Brenda Banwell, Kristin W. Barañano, A. James Barkovich, Richard J. Barohn, Ute K. Bartels, Brenda Bartnik-Olson, Ori Barzilai, Alexander Bassuk, David R. Bearden, Liat Ben-Sira, Timothy J. Bernard, Elizabeth Berry-Kravis, Lauren A. Beslow, Jaclyn A. Biegel, Lori Billinghurst, Angela K. Birnbaum, Joanna S. Blackburn, Nuala Bobowski, Adrienne Boire, Carsten G. Bönnemann, Sonia L. Bonifacio, Daniel J. Bonthius, Breck Borcherding, Brian R. Branchford, John Brandsema, Kathryn M. Brennan, J. Nicholas Brenton, Amy R. Brooks-Kayal, Lawrence W. Brown, Jeffrey Buchalter, Carol S. Camfield, Peter R. Camfield, Cristina Campoy, Jessica L. Carpenter, Taeun Chang, Vann Chau, Susan N. Chi, Claudia A. Chiriboga, Yoon-Jae Cho, Cindy W. Christian, Nicholas Chrestian, Maria Roberta Cilio, Robin D. Clark, Bruce H. Cohen, Ronald D. Cohn, Anne M. Connolly, Todd Constable, Shlomi Constantini, Jeannine M. Conway, David L. Coulter, Tina M. Cowan, Russell C. Dale, Benjamin Darbro, Basil T. Darras, Jahannaz Dastgir, Linda De Meirleir, Darryl C. De Vivo, Linda S. de Vries, Jeremy K. Deisch, Paul Deltenre, Jay Desai, Maria Descartes, Gabrielle deVeber, Sameer C. Dhamne, Jullianne Diaz, Salvatore DiMauro, William B. Dobyns, Dan Doherty, Elizabeth J. Donner, Nico U.F. Dosenbach, James J. Dowling, James M. Drake, Cecile Ejerskov, Andrew G. Engel, Gregory M. Enns, María Victoria Escolano-Margarit, Iris Etzion, S. Ali Fatemi, Darcy L. Fehlings, Michelle Lauren Feinberg, Donna M. Ferriero, Pauline A. Filipek, Richard S. Finkel, Paul G. Fisher, Kevin Flanigan, Nicholas K. Foreman, Israel Franco, Yitzchak Frank, Douglas R. Fredrick, Hudson H. Freeze, Cristina Fuente-Mora, Joseph M. Furman, Renata C. Gallagher, Catherine Garel, Emily Gertsch, Donald L. Gilbert, Elizabeth E. Gilles, Christopher C. Giza, Carol A. Glaser, Hannah C. Glass, Tracy Glauser, Joseph Glykys, Amy Goldstein, Hernan Dario Gonorazky, Rodolfo Gonzalez, Howard P. Goodkin, John M. Graham, Alexander L. Greninger, Gary Gronseth, Andrea L. Gropman, Richard Grundy, Renzo Guerrini, Nalin Gupta, Jin S. Hahn, Milton H. Hamblin, Abeer J. Hani, Sharyu Hanmantgad, Mary J. Harbert, Chellamani Harini, Andrea M. Harriott, Chad Heatwole, Andrew D. Hershey, Deborah G. Hirtz, Gregory L. Holmes, Barbara A. Holshouser, Kathleen A. Hurwitz, Eugene Hwang, Rebecca N. Ichord, Paymaan Jafar-Nejad, Sejal V. Jain, Lori Jordan, Marielle A. Kabbouche, Joanne Kacperski, Peter B. Kang, Matthias A. Kariannis, Horacio Kaufmann, Harper L. Kaye, Robert Keating, Colin R. Kennedy, Yasmin Khakoo, Adam Kirton, John T. Kissel, Kelly G. Knupp, Bruce R. Korf, Eric H. Kossoff, Sanjeev V. Kothare, Oren Kupfer, W. Curt LaFrance, Beatrice Latal, Steven M. Leber, Jean-Pyo Lee, Ilo E. Leppik, Tally Lerman-Sagie, Jason T. Lerner, Richard J. Leventer, Daniel J. Licht, Uta Lichter-Konecki, Zvi Lidar, Djin Gie Liem, Tobias Loddenkemper, Roger K. Long, Quyen N. Luc, Mark Mackay, Annette Majnemer, Naila Makhani, Gustavo Malinger, David E. Mandelbaum, Stephen M. Maricich, Kiran P. Maski, Mudit Mathur, Dennis J. Matthews, Kelly McMahon, Megan B. DeMara-Hoth, Bryce Mendelsohn, Julie A. Mennella, Laura R. Ment, Eugenio Mercuri, David J. Michelson, Mohamad A. Mikati, Fady M. Mikhail, Steven Paul Miller, Jeff M. Milunsky, Jonathan W. Mink, Ghayda M. Mirzaa, Wendy G. Mitchell, Michael A. Mohan, Payam Mohassel, Mahendranath Moharir, Umrao R. Monani, Michelle Monje Deisseroth, Manikum Moodley, Andrew Mower, Richard T. Moxley, Sabine Mueller, Alysson R. Muotri, Sandesh C.S. Nagamani, Mohan J. Narayanan, Vinodh Narayanan, Ruth D. Nass, Jeffrey L. Neul, Yoram Nevo, Bobby G. Ng, Katherine C. Nickels, Graeme A.M. Nimmo, Michael J. Noetzel, Lucy Norcliffe-Kaufmann, Douglas R. Nordli, Ulrike Nowak-Göttl, Hope L. O'Brien, Joyce Oleszek, Maryam Oskoui, Alex R. Paciorkowski, Roger J. Packer, Seymour Packman, Jose-Alberto Palma, Andrea C. Pardo, Julie A. Parsons, John Colin Partridge, Gregory M. Pastores, Marc C. Patterson, William J. Pearce, Phillip L. Pearl, Melanie Penner, Leila Percival, Marcia Pereira, Stefan M. Pfister, John Phillips, Barbara Plecko, Sigita Plioplys, Annapurna Poduri, Sharon Poisson, Scott L. Pomeroy, Andrea Poretti, Scott W. Powers, Michael R. Pranzatelli, Allison Przekop, Malcolm Rabie, Sampathkumar Rangasamy, Gerald V. Raymond, Alyssa T. Reddy, Rebecca L. Rendleman, Jong M. Rho, Lance H. Rodan, Sarah M. Roddy, Elizabeth E. Rogers, Stephen M. Rosenthal, N. Paul Rosman, M. Elizabeth Ross, Alexander Rotenberg, Robert S. Rust, Cheryl P. Sanchez, Pedro Sanchez, Iván Sánchez Fernández, Tristan T. Sands, Terence D. Sanger, Kumar Sannagowdara, Dustin Scheinost, Mark S. Scher, Nina F. Schor, Isabelle Schrauwen, Michael M. Segal, Syndi Seinfeld, Duygu Selcen, Laurie E. Seltzer, Margaret Semrud-Clikeman, Dennis W. Shaw, Bennett A. Shaywitz, Sally E. Shaywitz, Renée A. Shellhaas, Elliott H. Sherr, Rita D. Sheth, Michael I. Shevell, Shlomo Shinnar, Ben Shofty, Stanford K. Shu, Michael E. Shy, Laura Silveira Moriyama, Nicholas J. Silvestri, Katherine B. Sims, Harvey S. Singer, Nilika Shah Singhal, Craig M. Smith, Edward Smith, Stephen A. Smith, Evan Y. Snyder, Janet Soul, Christy L. Spalink, Karen A. Spencer, Carl E. Stafstrom, Robert Steinfeld, Jonathan B. Strober, Joseph Sullivan, Kenneth F. Swaiman, Kathryn J. Swoboda, Elizabeth D. Tate, William O. Tatum, Ingrid Tein, Kristyn Tekulve, Jeffrey R. Tenney, Elizabeth A. Thiele, Robert Thompson-Stone, Laura Tochen, Laura M. Tormoehlen, Lily Tran, Doris A. Trauner, Sinan O. Turnacioglu, Nicole J. Ullrich, David K. Urion, Guy Van Camp, Michèle Van Hirtum-Das, Clara D.M. van Karnebeek, Lionel Van Maldergem, Adeline Vanderver, Nicholas A. Vitanza, Michael von Rhein, Emily von Scheven, Ann Wagner, Mark S. Wainwright, Melissa A. Walker, John T. Walkup, Laurence Walsh, Lauren C. Walters-Sen, Raymond Y. Wang, Thomas T. Warner, Harry T. Whelan, Geoffrey A. Weinberg, Elizabeth M. Wells, James W. Wheless, Elaine C. Wirrell, Jeffrey H. Wisoff, Nicole I. Wolf, Gil I. Wolfe, F. Virginia Wright, Nathaniel D. Wycliffe, Michele L. Yang, Christopher J. Yuskaitis, Huda Y. Zoghbi, and Mary L. Zupanc
Published: 2017
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74. Maximum inspiratory pressure as a clinically meaningful trial endpoint for neuromuscular diseases: a comprehensive review of the literature

Author: John T. Kissel, David Orlikowski, Shyam Madathil, Tarekegn Geberhiwot, Derralynn Hughes, Peter Young, Michael I. Polkey, Harm A.W.M. Tiddens, Mark Roberts, Edward Fong, Benedikt Schoser, and Pediatrics
Subjects: Maximal Respiratory Pressures, Survival, Duchenne muscular dystrophy, Review, Research & Experimental Medicine, Respiratory failure, AMYOTROPHIC-LATERAL-SCLEROSIS, Pulmonary function testing, 0302 clinical medicine, Genetics(clinical), Pharmacology (medical), Genetics (clinical), Genetics & Heredity, Medicine(all), Neuromuscular Diseases, General Medicine, Neuromuscular disease, RESPIRATORY MUSCLE STRENGTH, CHRONIC HEART-FAILURE, Respiratory Function Tests, GUILLAIN-BARRE-SYNDROME, Medicine, Research & Experimental, VITAL CAPACITY, Cardiology, Respiratory Insufficiency, Maximum inspiratory pressure, Life Sciences & Biomedicine, medicine.medical_specialty, OBSTRUCTIVE PULMONARY-DISEASE, DUCHENNE MUSCULAR-DYSTROPHY, NONINVASIVE VENTILATION, 03 medical and health sciences, Internal medicine, medicine, Respiratory muscle, Humans, Science & Technology, Surrogate endpoint, business.industry, Spinal muscular atrophy, 1199 Other Medical And Health Sciences, Endpoint, medicine.disease, 030228 respiratory system, Spirometry, POMPE DISEASE, SNIFF NASAL PRESSURE, business, 030217 neurology & neurosurgery
Abstract: Respiratory muscle strength is a proven predictor of long-term outcome of neuromuscular disease (NMD), including amyotrophic lateral sclerosis, Duchenne muscular dystrophy, and spinal muscular atrophy. Maximal inspiratory pressure (MIP), a sensitive measure of respiratory muscle strength, one of several useful tests of respiratory muscle strength, is gaining interest as a therapeutic clinical trial endpoint for NMD. In this comprehensive review we investigate the use of MIP as a measure of respiratory muscle strength in clinical trials of therapeutics targeting respiratory muscle, examine the correlation of MIP with survival, quality of life, and other measures of pulmonary function, and outline the role of MIP as a clinically significantly meaningful outcome measure. Our analysis supports the utility of MIP for the early evaluation of respiratory muscle strength, especially of the diaphragm, in patients with NMD and as a surrogate endpoint in clinical trials of therapies for NMD.
Published: 2017
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75. The Limb-Girdle Muscular Dystrophies

Author: Matthew Wicklund and John T. Kissel
Subjects: Adult, Male, Weakness, Adolescent, Shoulders, Muscle Proteins, Limb girdle, Dysferlin, Young Adult, Humans, Medicine, Age of Onset, Child, Fukutin-related protein, biology, business.industry, Anatomy, Middle Aged, medicine.disease, Muscle atrophy, Sarcoglycan, Muscular Dystrophies, Limb-Girdle, Mutation, biology.protein, Female, Neurology (clinical), medicine.symptom, business, Limb-girdle muscular dystrophy
Abstract: A collection of more than 30 genetic muscle diseases that share certain key features, limb-girdle muscular dystrophies are characterized by progressive weakness and muscle atrophy of the hips, shoulders, and proximal extremity muscles with postnatal onset. This article discusses clinical, laboratory, and histologic features of the 6 most prevalent limb-girdle dystrophies. In this large group of disorders, certain distinctive features often can guide clinicians to a correct diagnosis.
Published: 2014
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76. Skeletal health in Duchenne dystrophy: Bone-size and subcranial dual-energy X-ray absorptiometry analyses

Author: Prem K. Goel, John T. Kissel, Velimir Matkovic, Diane Visy, and Wendy King
Subjects: musculoskeletal diseases, Bone mineral, medicine.medical_specialty, Duchenne dystrophy, medicine.diagnostic_test, Physiology, business.industry, Duchenne muscular dystrophy, Bone fragility, medicine.disease, Skeleton (computer programming), Cellular and Molecular Neuroscience, Skull, medicine.anatomical_structure, Endocrinology, Physiology (medical), Internal medicine, medicine, Bone mineral content, Neurology (clinical), Nuclear medicine, business, Dual-energy X-ray absorptiometry
Abstract: Introduction We performed subcranial and bone-size-adjusted whole body dual-energy X-ray absorptiometry (DXA) to evaluate skeletal health in Duchenne dystrophy (DMD). Methods Total body bone mineral density (TBBMD)-for-age, subcranial, and size-adjusted DXA analyses were performed on 22 DMD patients (5-17 years) and compared with 267 controls from a database. The skull contribution to total body bone mineral content (TBBMC) and corticosteroid effects were also examined. Results DMD boys had deficits in TBBMD-for-age (Z = -1.2), which increased with age. The skull's contribution to TBBMC decreased from 45% to 15% with growth. Z-scores for subcranial skeleton were significantly lower than TBBMC-for-area and TBBMD-for-age. Conclusions Size-adjusted and subcranial analyses improve evaluation of whole body DXA. DMD boys have low BMD for size not commensurate with total body areal BMD-for-age. Bone fragility fractures in DMD may result from both decreased BMD and smaller bones. This information is vital to determine appropriate intervention. Muscle Nerve 49:512-519, 2014.
Published: 2014
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77. Lambert-Eaton Syndrome, an Unrecognized Treatable Pediatric Neuromuscular Disorder: Three Patients and Literature Review

Author: Jayashri Srinivasan, Jennifer A. Markowitz, H. Royden Jones, Mirna Hajjar, Basil T. Darras, and John T. Kissel
Subjects: Male, Pediatrics, medicine.medical_specialty, Proximal muscle weakness, Lymphoproliferative disorders, Malignancy, Neuromuscular junction, Developmental Neuroscience, Neuroblastoma, medicine, Lambert Eaton syndrome, Humans, Child, Myopathy, Electromyography, business.industry, Neuromuscular Diseases, medicine.disease, Lambert-Eaton Myasthenic Syndrome, medicine.anatomical_structure, Neurology, Pediatrics, Perinatology and Child Health, Physical therapy, Proximal weakness, Female, Neurology (clinical), medicine.symptom, business, Follow-Up Studies
Abstract: Background Lambert-Eaton myasthenic syndrome, a presynaptic neuromuscular junction autoimmune disorder, rarely occurs in children. Patients typically present with proximal lower extremity weakness with areflexia. Methods We report three children presenting between ages 9 and 10 years diagnosed with Lambert-Eaton myasthenic syndrome 2 years, 1 year, and 5 months later, respectively. Their clinical attributes are correlated with nine other pediatric Lambert-Eaton myasthenic syndrome patients found in our literature review. Results These patients were identified as having Lambert-Eaton myasthenic syndrome during their evaluation for proximal weakness. Low-amplitude compound muscle action potentials classically facilitating >100% with voluntary exercise and/or 50 Hz stimulation were essential to diagnosis. Three of the 12 children had associated malignancies, two of them had lymphoproliferative disorders with onset of symptoms more rapid than the rest, and the third had neuroblastoma. The nine nonparaneoplastic Lambert-Eaton myasthenic syndrome patients responded to immunomodulatory therapy with close return to their baseline function. Complete remission no longer necessitating medication was reported in two patients. Follow-up up to 17 years was available on two patients previously reported. Conclusion Lambert-Eaton myasthenic syndrome is a diagnosis that must be considered in children presenting with unidentified proximal muscle weakness. In most children, Lambert-Eaton myasthenic syndrome is a primary autoimmune disorder that is treatable. Nevertheless, a search for malignancy is recommended.
Published: 2014
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78. The Limb-Girdle Muscular Dystrophies and the Dystrophinopathies

Author: John T. Kissel and Stanley Iyadurai
Subjects: Adult, Male, Pathology, medicine.medical_specialty, Muscle biopsy, medicine.diagnostic_test, business.industry, Limb girdle, Genetic Therapy, 030204 cardiovascular system & hematology, Middle Aged, 03 medical and health sciences, 0302 clinical medicine, Muscular Dystrophies, Limb-Girdle, Child, Preschool, medicine, Humans, Female, Neurology (clinical), business, 030217 neurology & neurosurgery, Genetics (clinical), Germ-Line Mutation
Abstract: The classic approach to identifying and accurately diagnosing limb-girdle muscular dystrophies (LGMDs) relied heavily on phenotypic characterization and ancillary studies including muscle biopsy. Because of rapid advances in genetic sequencing methodologies, several additional LGMDs have been molecularly characterized, and the diagnostic approach to these disorders has been simplified. This article summarizes the epidemiology, clinical features, and genetic defects underlying the LGMDs.In recent years, the advent of next-generation sequencing has heralded an era of molecular diagnosis in conjunction with physical characterization. Inadvertently, this process has also led to the "next-generation aftermath," whereby variants of unknown significance are identified in most patients. Similar to the published diagnostic and treatment guidelines for Duchenne muscular dystrophy, diagnostic and treatment guidelines have recently been published for LGMDs. In addition, the first medication (based on the exon-skipping strategy) for treatment of patients with a subset of Duchenne muscular dystrophy has been recently approved by the US Food and Drug Administration (FDA).The LGMDs are a heterogeneous group of hereditary, progressive, and degenerative neuromuscular disorders that present with primary symptoms of shoulder girdle and pelvic girdle weakness. Although a combination of clinical and molecular genetic evaluations may be sufficient for accurate diagnosis of LGMDs in many cases, the contribution of imaging and histopathologic correlations still remains a critical, if not a necessary, component of evaluation in some cases.
Published: 2016

79. Finger extension weakness and downbeat nystagmus motor neuron disease syndrome: A novel motor neuron disorder?

Author: Aline, Delva, Nimish, Thakore, Erik P, Pioro, Koen, Poesen, Rachel, Saunders-Pullman, Inge A, Meijer, Janet C, Rucker, John T, Kissel, and Philip, Van Damme
Subjects: Adult, Male, finger extension, Muscle Weakness, genetic structures, Adolescent, Electrodiagnosis, Short Report, muscle wasting, Nystagmus, Pathologic, Fingers, Young Adult, Short Reports, motor neuron disease, Humans, Female, FEWDON‐MND, downbeat nystagmus, Retrospective Studies
Abstract: ABSTACT Introduction: Disturbances of eye movements are infrequently encountered in motor neuron diseases (MNDs) or motor neuropathies, and there is no known syndrome that combines progressive muscle weakness with downbeat nystagmus. Methods: To describe the core clinical features of a syndrome of MND associated with downbeat nystagmus, clinical features were collected from 6 patients. Results: All patients had slowly progressive muscle weakness and wasting in combination with downbeat nystagmus, which was clinically most obvious in downward and lateral gaze. Onset was in the second to fourth decade with finger extension weakness, progressing to other distal and sometimes more proximal muscles. Visual complaints were not always present. Electrodiagnostic testing showed signs of regional motor axonal loss in all patients. Discussion: The etiology of this syndrome remains elusive. Because finger extension weakness and downbeat nystagmus are the discriminating clinical features of this MND, we propose the name FEWDON‐MND syndrome. Muscle Nerve 56: 1164–1168, 2017
Published: 2016

80. SMA THERAPIES I

Author: Brian K. Kaspar, J. Mendell, Richard Shell, Lindsay N. Alfano, J.L. Italien, Louise R. Rodino-Klapac, K. Church, Samiah Al-Zaidy, John T. Kissel, Douglas M. Sproule, K. Berry, William Arnold, Kevin D. Foust, Linda Lowes, C. Wells, S. Nagendran, Kathrin Meyer, S. Likhite, T. Prior, and A. H. M. Burghes
Subjects: 03 medical and health sciences, 0302 clinical medicine, Neurology, business.industry, 030503 health policy & services, Pediatrics, Perinatology and Child Health, Medicine, 030212 general & internal medicine, Neurology (clinical), 0305 other medical science, business, SMA, Genetics (clinical)
Published: 2018
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81. Electrophysiological biomarkers in spinal muscular atrophy: proof of concept

Author: Sandra I Duque, Xiaobai Li, Arthur H. M. Burghes, Kathrin Meyer, Leah Schmelzer, Brian K. Kaspar, Stephen J. Kolb, Chitra C. Iyer, Vicki L. McGovern, W. David Arnold, John T. Kissel, and Paul Porensky
Subjects: 0303 health sciences, medicine.diagnostic_test, business.industry, General Neuroscience, Electromyography, Spinal muscular atrophy, Motor neuron, SMA, medicine.disease, Compound muscle action potential, Clinical trial, 03 medical and health sciences, Electrophysiology, 0302 clinical medicine, medicine.anatomical_structure, medicine, Motor unit number estimation, Neurology (clinical), business, Neuroscience, 030217 neurology & neurosurgery, 030304 developmental biology
Abstract: Objective Preclinical therapies that restore survival motor neuron (SMN) protein levels can dramatically extend survival in spinal muscular atrophy (SMA) mouse models. Biomarkers are needed to effectively translate these promising therapies to clinical trials. Our objective was to investigate electrophysiological biomarkers of compound muscle action potential (CMAP), motor unit number estimation (MUNE) and electromyography (EMG) using an SMA mouse model.
Published: 2013
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82. ALSUntangled No. 29: MitoQ

Author: Muddasir Quereshi, Bjorn Oskarsson, Peter M Andersen, Pamela Kittrell, Mark B. Bromberg, Gleb Levitsky, Richard Bedlack, Nicholas J. Maragakis, Leo McClusky, Michael J. Strong, Robin Conwit, Lewis P. Rowland, Efrat Carmi, Tahseen Mozaffar, Alexander Sherman, Mazen M. Dimachkie, Yunxia Wang, Megan Grosso, Brett M. Morrison, Carlayne E. Jackson, Eric J. Sorenson, Craig Oster, John Ravits, Meraida Polak, Orla Hardiman, Hubert Kwieciński, Terry Heiman-Patterson, Dallas Forshew, Christina Fournier, Jonathan Licht, Dan Moore, Carmel Armon, Gregory T. Carter, Gary L. Pattee, James Heywood, Katherine Tindall, Stacy A. Rudnicki, Edor Kabashi, Laurie Gutmann, Jonathan D. Glass, David Saperstein, Chafic Karam, Kevin Boylan, Daniel M. Pastula, Lorne Zinman, Lisa Kinsley, Eric Valor, Michael H. Rivner, Kathy Mitchell, Neta Zach, James A. Russell, Vivian E. Drory, Melanie Leitner, James Caress, Khema Sharma, Rup Tandan, Colin Quinn, Steven Novella, Ashok Verma, Larry Phillips, Catherine Lomen-Hoerth, Daniel MacGowan, Jim Wymer, Michael Benatar, Kate Dalton, Steve Kolb, Michael D. Weiss, Jeffrey V. Rosenfeld, Nazem Atassi, Robert Bowser, Jon Baker, Merit Cudkowicz, Noah Lechtzin, Jeffrey D. Rothstein, Paul Wicks, Steven Nash, Christen Shoesmith, John T. Kissel, Josep Gamez, Bonnie Gerecke, Hiroshi Mitsumoto, Janice Robertson, Paul E. Barkhaus, Ginna Gonzalez, Mieko Ogino, George Sachs, Todd Levine, Jonathan Goldstein, Jeremy M. Shefner, Tulio E. Bertorini, Robert G. Miller, Sith Sathornsumetee, Lyle Ostrow, Erik P. Pioro, and Jeff Dietz
Subjects: Pathology, medicine.medical_specialty, Ubiquinone, business.industry, Amyotrophic Lateral Sclerosis, Drug Evaluation, Preclinical, medicine.disease, Antioxidants, Disease Models, Animal, Oxidative Stress, Organophosphorus Compounds, Neurology, Animals, Humans, Medicine, Neurology (clinical), Amyotrophic lateral sclerosis, business
Published: 2015
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83. Rasch analysis of clinical outcome measures in spinal muscular atrophy

Author: Linda S. Hynan, Stefan J. Cano, Michael R. Rose, C. Berard, Leslie Nelson, Cynthia Joyce, Kristin J. Krosschell, Mackensie A. Yore, Reza Sadjadi, Kathryn J. Swoboda, Shree Pandya, Charles P. Scott, Susan T. Iannaccone, Julaine Florence, Christine Payan, Françoise Girardot, Marion Main, Eugenio Mercuri, Birgit F. Steffensen, Allan M. Glanzman, Elena S. Mazzone, Anna Mayhew, Bakri Elsheikh, and John T. Kissel
Subjects: medicine.medical_specialty, Rasch model, Scale (ratio), Psychometrics, Physiology, Separation (statistics), Polytomous Rasch model, SMA, Cellular and Molecular Neuroscience, Physical medicine and rehabilitation, Rating scale, Physiology (medical), Physical therapy, medicine, Neurology (clinical), Psychology, Reliability (statistics)
Abstract: Introduction: Trial design for SMA depends on meaningful rating scales to assess outcomes. In this study Rasch methodology was applied to 9 motor scales in spinal muscular atrophy (SMA). Methods: Data from all 3 SMA types were provided by research groups for 9 commonly used scales. Rasch methodology assessed the ordering of response option thresholds, tests of fit, spread of item locations, residual correlations, and person separation index. Results :E ach scale had good reliability. However, several issues impacting scale validity were identified, including the extent that items defined clinically meaningful constructs and how well each scale measured performance across the SMA spectrum. Conclu- sions: The sensitivity and potential utility of each SMA scale as outcome measures for trials could be improved by estab- lishing clear definitions of what is measured, reconsidering items that misfit and items whose response categories have
Published: 2013
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84. SMA valiant trial: A prospective, double-blind, placebo-controlled trial of valproic acid in ambulatory adults with spinal muscular atrophy

Author: Susan L. Sorenson, Thomas W. Prior, John T. Kissel, Stephen J. Kolb, Kristin J. Krosschell, Charles B. Scott, Sandra P. Reyna, Bernie LaSalle, Mary K. Schroth, Louise R. Simard, Bakri Elsheikh, Gyula Acsadi, Guy D'Anjou, Kathryn J. Swoboda, Wendy King, Thomas O. Crawford, Jo Anne Maczulski, and Miriam Freimer
Subjects: medicine.medical_specialty, Physiology, Placebo-controlled study, Biology, Placebo, SMA, Crossover study, law.invention, Clinical trial, Cellular and Molecular Neuroscience, Randomized controlled trial, law, Physiology (medical), Anesthesia, Ambulatory, Physical therapy, medicine, lipids (amino acids, peptides, and proteins), Neurology (clinical), Prospective cohort study
Abstract: Introduction An open-label trial suggested that valproic acid (VPA) improved strength in adults with spinal muscular atrophy (SMA). We report a 12-month, double-blind, cross-over study of VPA in ambulatory SMA adults. Methods There were 33 subjects, aged 20–55 years, included in this investigation. After baseline assessment, subjects were randomized to receive VPA (10–20 mg/kg/day) or placebo. At 6 months, patients were switched to the other group. Assessments were performed at 3, 6, and 12 months. The primary outcome was the 6-month change in maximum voluntary isometric contraction testing with pulmonary, electrophysiological, and functional secondary outcomes. Results Thirty subjects completed the study. VPA was well tolerated, and compliance was good. There was no change in primary or secondary outcomes at 6 or 12 months. Conclusions VPA did not improve strength or function in SMA adults. The outcomes used are feasible and reliable and can be employed in future trials in SMA adults.
Published: 2013
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85. Ethambutol toxicity exacerbating the phenotype of CMT2A2

Author: John T. Kissel, David S. Raymer, Monica Skordilis, Victoria H. Lawson, Avrom Epstein, Elaine Binkley, Ekokobe Fonkem, and W. David Arnold
Subjects: Genetics, Physiology, MFN2, Neurotoxicity, Biology, Mitochondrion, medicine.disease, Bioinformatics, Fusion gene, Optic neuropathy, Cellular and Molecular Neuroscience, Atrophy, mitochondrial fusion, Physiology (medical), medicine, Neurology (clinical), Ethambutol, medicine.drug
Abstract: Introduction: CMT2A2 is associated with mutations in the mitofusin 2 gene, which encodes a protein involved in mitochondrial fusion. Ethambutol is an antimycobacterial agent associated with toxic optic neuropathies. Ethambutol-induced optic neuropathy occurs in patients with mutations in a related fusion gene, OPA1, which is responsible for autosomal dominant optic atrophy. Methods: We describe a patient with CMT2A2 (MFN2 mutation: T669G, F223L) who developed accelerated weakness, vocal cord paralysis, and optic atrophy after receiving ethambutol. Results: Deterioration began within months of initiating ethambutol therapy. After discontinuation of ethambutol, neurologic deterioration stabilized with subsequent improvement in visual fields. Conclusions: CMT2A2 is part of a group of genetic disorders which share an association with the process of mitochondrial fusion. This case shows that patients with CMT2A2, and possibly other mitochondrial fusion defects, may be uniquely susceptible to ethambutol-induced neurotoxicity. This has implications regarding the underlying pathophysiology of mitochondrial fusion defects. Muscle Nerve, 2013
Published: 2013
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86. The Neuropathies of Vasculitis

Author: Michael P. Collins, William Arnold, and John T. Kissel
Subjects: Vasculitis, Pathology, medicine.medical_specialty, Biopsy, Pain, Connective tissue, Adrenal Cortex Hormones, Peripheral nerve, Humans, Medicine, Sensory symptoms, Peripheral Nerves, Aged, Anti-neutrophil cytoplasmic antibody, Nerve biopsy, Muscle biopsy, medicine.diagnostic_test, business.industry, Electrodiagnosis, Peripheral Nervous System Diseases, medicine.disease, medicine.anatomical_structure, Female, Immunotherapy, Neurology (clinical), business
Abstract: Vasculitic neuropathy can occur as an isolated entity (nonsystemic vasculitic neuropathy) but more commonly evolves in the setting of primary systemic vasculitides or secondary vasculitides related to infections, drugs, or connective tissue disorders. Vasculitic neuropathies are usually but not always painful and tend to produce sensory motor or sensory symptoms. Patients with purely motor or small-fiber dysfunction are unlikely to have vasculitis. Deficits are typically multifocal or asymmetric, but distal symmetric polyneuropathy occurs uncommonly. Evaluation requires laboratory tests, electrodiagnostic studies, and nerve or nerve/muscle biopsy. This article reviews classification, clinical presentation, diagnostic evaluation, and management of peripheral nerve vasculitis.
Published: 2013
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87. ALS Untangled No. 20: The Deanna Protocol

Author: Muddasir Quereshi, Pamela Kittrell, Jonathan D. Glass, Efrat Carmi, David Saperstein, Lisa Kinsley, Mark B. Bromberg, Christina Fournier, James Heywood, Eric Valor, Leo McClusky, Rup Tandan, Lyle Ostrow, Eric J. Sorenson, Jim Wymer, Noah Lechtzin, Megan Grosso, Carmel Armon, Todd Levine, Paul E. Barkhaus, Laurie Gutmann, Nazem Atassi, Ginna Gonzalez, Mazen M. Dimachkie, Daniel M. Pastula, Steven Nash, Tahseen Mozaffar, James A. Russell, Robert G. Miller, Hubert Kwieciński, Dan Moore, Michael H. Rivner, Ashok Verma, Craig Oster, John Ravits, Steve Kolb, Jonathan Goldstein, Robert Bowser, Steven Novella, Gregory T. Carter, Michael Benatar, Tulio E. Bertorini, Larry Phillips, Yunxia Wang, Carlayne E. Jackson, Kathy Mitchell, Orla Hardiman, Janice Robertson, Sith Sathornsumetee, Jeffrey D. Rothstein, Melanie Leitner, Lewis P. Rowland, Vivian E. Drory, James B. Caress, Jeremy M. Shefner, Mieko Ogino, George Sachs, Alexander Sherman, Michael J. Strong, Catherine Lomen-Hoerth, Paul Wicks, Erik P. Pioro, Daniel MacGowan, Terry Heiman-Patterson, Kevin B. Boylan, Bjorn Oskarsson, Dallas Forshew, Jonathan Licht, Josep Gamez, Katherine Tindall, Kate Dalton, Gleb Levitsky, Richard Bedlack, Hiroshi Mitsumoto, Gary L. Pattee, Jeff Dietz, Stacy A. Rudnicki, Bonnie Gerecke, Edor Kabashi, Robin Conwit, Peter M Andersen, Nicholas J. Maragakis, Meraida Polak, Michael D. Weiss, Jeffrey V. Rosenfeld, Jon Baker, Christen Shoesmith, John T. Kissel, and Khema Sharma
Subjects: medicine.medical_specialty, business.industry, Amyotrophic Lateral Sclerosis, medicine.disease, Physical medicine and rehabilitation, Neurology, Dietary Supplements, Coconut Oil, Animals, Humans, Plant Oils, Medicine, Nutrition Therapy, Neurology (clinical), Amyotrophic lateral sclerosis, business, Protocol (object-oriented programming)
Published: 2013
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88. A randomized, double-blind, placebo-controlled phase II study of eculizumab in patients with refractory generalized myasthenia gravis

Author: Michelle Mellion, Jing Jing Wang, James F. Howard, Richard J. Barohn, Miriam Freimer, Suneil S. Malhotra, Michael Benatar, Gary Cutter, Tahseen Mozaffar, Vern C. Juel, Maria Elena Farrugia, and John T. Kissel
Subjects: medicine.medical_specialty, Physiology, business.industry, Neuromuscular transmission, Phases of clinical research, Eculizumab, Placebo, medicine.disease, Crossover study, Gastroenterology, Myasthenia gravis, Surgery, law.invention, Cellular and Molecular Neuroscience, Randomized controlled trial, law, Physiology (medical), Internal medicine, medicine, Clinical endpoint, Neurology (clinical), business, medicine.drug
Abstract: Introduction: Complement activation at the neuromuscular junction is a primary cause of acetylcholine receptor loss and failure of neuromuscular transmission in myasthenia gravis (MG). Eculizumab, a humanized monoclonal antibody, blocks the formation of terminal complement complex by specifically preventing the enzymatic cleavage of complement 5 (C5). Methods: This study was a randomized, double-blind, placebo-controlled, crossover trial involving 14 patients with severe, refractory generalized MG (gMG). Results: Six of 7 patients treated with eculizumab for 16 weeks (86%) achieved the primary endpoint of a 3-point reduction in the quantitative myasthenia gravis (QMG) score. Examining both treatment periods, the overall change in mean QMG total score was significantly different between eculizumab and placebo (P = 0.0144). After assessing data obtained from all visits, the overall change in mean QMG total score from baseline was found to be significantly different between eculizumab and placebo (P
Published: 2013
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89. ALSUntangled 38: L-serine

Author: John Ravits, Jonathan D. Glass, David Saperstein, Ahmad Ghavanini, Erik P. Pioro, Efrat Carmi, Tahseen Mozaffar, Bjorn Oskarsson, Steven Nash, Kristiana Salmon, Richard Bedlack, Christina Fournier, Muddasir Quereshi, Pamela Kittrell, Eric J. Sorenson, Michael Benatar, Todd Levine, Jim Wymer, Carmel Armon, Laurie Gutmann, Jonathan Goldstein, Peter M Andersen, Michael D. Weiss, Lisa Kinsley, Paul Wicks, Jeffrey V. Rosenfeld, Ceri Weber, Ashok Verma, Nazem Atassi, Robert G. Miller, Robert Bowser, Josep Gamez, Bonnie Gerecke, Nicholas J. Maragakis, Brett M. Morrison, Megan Grosso, Gary L. Pattee, Orla Hardiman, Janice Robertson, Jon Baker, Edor Kabashi, Gregory T. Carter, Vivian E. Drory, Neta Zach, Merit Cudkowicz, Noah Lechtzin, Colin Quinn, Catherine Lomen-Hoerth, Daniel MacGowan, Terry Heiman-Patterson, Dallas Forshew, Eric Valour, Kate Dalton, Jeremy M. Shefner, James Heywood, Gleb Levitsky, Alexander Sherman, Robin Conwit, Rob Goldstein, Michael J. Strong, Katherine Tindall, Jeffrey D. Rothstein, Stacy A. Rudnicki, James A. Russell, Steve Kolb, Jonathan Licht, Chafic Karam, Steve Perrin, Hiroshi Mitsumoto, Lyle Ostrow, Leo McClusky, Yunxia Wang, Carlayne E. Jackson, Daniel M. Pastula, Michael H. Rivner, Larry Phillips, Rup Tandan, Paul E. Barkhaus, Ginna Gonzalez, Tulio E. Bertorini, L. P. Rowland, Yvonne Baker, Sith Sathornsumetee, Kevin Boylan, Mark Bromberg, Dan Moore, Fernando G. Vieira, Kathy Mitchell, Melanie Leitner, Mazen M. Dimachkie, James Caress, Meraida Polak, Lorne Zinman, Veronica Peschansky, Christen Shoesmith, John T. Kissel, Khema Sharma, Steven Novella, Emma Fixen, Keeli Hope Denson, Mieko Ogino, and George Sachs
Subjects: 0301 basic medicine, Risk, Clinical Trials as Topic, Amyotrophic Lateral Sclerosis, L serine, Biology, medicine.disease, Molecular biology, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, Treatment Outcome, Neurology, medicine, Serine, Humans, Neurology (clinical), Amyotrophic lateral sclerosis, 030217 neurology & neurosurgery
Published: 2016

90. Variable phenotypic expression and onset in MYH14 distal hereditary motor neuropathy phenotype in a large, multigenerational North American family

Author: Stanley, Iyadurai, W David, Arnold, John T, Kissel, Corey, Ruhno, Vicki L, Mcgovern, Pamela J, Snyder, Thomas W, Prior, Jennifer, Roggenbuck, Arthur H, Burghes, and Stephen J, Kolb
Subjects: Adult, Family Health, Male, Myosin Type II, Genotype, Myosin Heavy Chains, Genetic Linkage, Action Potentials, Middle Aged, Article, Phenotype, North America, Humans, Female, Hereditary Sensory and Motor Neuropathy, Muscle, Skeletal
Abstract: Distal hereditary motor neuropathy (dHMN) causes distal-predominant weakness without prominent sensory loss. Myosin heavy chain disorders most commonly result in distal myopathy and cardiomyopathy with or without hearing loss, but a complex phenotype with dHMN, myopathy, hoarseness, and hearing loss was reported in a Korean family with a c.2822GT mutation in MYH14. In this study we report phenotypic features in a North American family with the c.2822GT in MYH14.Clinical and molecular characterization was performed in a large, 6-generation, Caucasian family with MYH14 dHMN.A total of 11 affected and 7 unaffected individuals were evaluated and showed varying age of onset and severity of weakness. Genotypic concordance was confirmed with molecular analysis. Electrophysiological studies demonstrated distal motor axonal degeneration without myopathy in all affected subjects tested.Mutation of MYH14 can result in a range of neuromuscular phenotypes that includes a dHMN and hearing loss phenotype with variable age of onset. Muscle Nerve 56: 341-345, 2017.
Published: 2016

91. QMG and MG-ADL correlations: Study of eculizumab treatment of myasthenia gravis

Author: James F, Howard, Miriam, Freimer, Fanny, O'Brien, Jing Jing, Wang, Stephen R, Collins, and John T, Kissel
Subjects: Male, Cross-Over Studies, Treatment Outcome, Activities of Daily Living, Myasthenia Gravis, Humans, Female, Antibodies, Monoclonal, Humanized, Severity of Illness Index, Follow-Up Studies
Abstract: A phase 2 study of eculizumab for treating myasthenia gravis (MG) used the quantitative myasthenia gravis score (QMG) and myasthenia gravis activities of daily living profile (MG-ADL) to evaluate baseline disease severity and treatment response. Correlations were then analyzed between these assessments.Patients were given eculizumab or placebo during the first 16-week treatment period of the crossover study, with treatment assignments reversed for the second treatment period following a 5-week washout. QMG and MG-ADL scores at baseline and endpoint of each treatment period generated correlation coefficients for baseline status and treatment response during eculizumab therapy.Correlation strength between QMG and MG-ADL scores was higher for treatment response (R = 0.726; 95% confidence interval, 0.264-0.907; P = 0.0036) than for assessing baseline disease status (R = 0.552; 95% confidence interval, -0.022-0.839; P = 0.0495).MG-ADL may be more sensitive for assessing treatment response than point-in-time disease status. Muscle Nerve 56: 328-330, 2017.
Published: 2016

92. Understanding Small Fiber Neuropathy: The Long and Short of It

Author: John T. Kissel and A. Gordon Smith
Subjects: Axonal neuropathy, Pathology, medicine.medical_specialty, Diabetic neuropathy, business.industry, Small Fiber Neuropathy, Disease progression, Peripheral Nervous System Diseases, 030209 endocrinology & metabolism, medicine.disease, 03 medical and health sciences, 0302 clinical medicine, Peripheral neuropathy, Nerve Fibers, medicine, Humans, Neurology (clinical), business, 030217 neurology & neurosurgery
Published: 2016

93. ALSUntangled No. 34: GM604

Author: Yvonne Baker, Alexander Sherman, Gary L. Pattee, Kevin Boylan, Edor Kabashi, Yunxia Wang, Craig Oster, John Ravits, Muddasir Quereshi, Carlayne E. Jackson, Christen Shoesmith, John T. Kissel, Pamela Kittrell, James Heywood, Mieko Ogino, Gleb Levitsky, Bonnie Gerecke, Bjorn Oskarsson, George Sachs, Eric Valor, Kristiana Salmon, Richard Bedlack, Neta Zach, Robin Conwit, Rob Goldstein, Ahmad Ghavanini, Rup Tandan, Fernando G. Vieira, Efrat Carmi, Janice Robertson, Katherine Tindall, James Caress, Megan Grosso, Eric J. Sorenson, Daniel M. Pastula, Michael H. Rivner, Jeffrey D. Rothstein, Stacy A. Rudnicki, Erik P. Pioro, Terry Heiman-Patterson, Dallas Forshew, Lisa Kinsley, Ashok Verma, Paul E. Barkhaus, Ginna Gonzalez, Larry Phillips, Leo McClusky, Jonathan D. Glass, Brett M. Morrison, David Saperstein, Jim Wymer, Jeff Dietz, Catherine Lomen-Hoerth, Tahseen Mozaffar, Gregory T. Carter, Orla Hardiman, Josep Gamez, Vivian E. Drory, Daniel MacGowan, Dan Moore, Colin Quinn, Chafic Karam, Kate Dalton, Tulio E. Bertorini, Nazem Atassi, Robert G. Miller, Peter M Andersen, Robert Bowser, Michael D. Weiss, L. P. Rowland, Michael J. Strong, Jeffrey V. Rosenfeld, Steven Novella, Nicholas J. Maragakis, Michael Benatar, Jeremy M. Shefner, Jon Baker, Jonathan Licht, Kathy Mitchell, Christina Fournier, Mark Bromberg, Mazen M. Dimachkie, Steven Nash, James A. Russell, Paul Wicks, Meraida Polak, Melanie Leitner, Lorne Zinman, Steve Kolb, Noah Lechtzin, Sith Sathornsumetee, Lyle Ostrow, Todd Levine, Jonathan Goldstein, Khema Sharma, Carmel Armon, Laurie Gutmann, and Steve Perrin
Subjects: 0301 basic medicine, Compassionate Use Trials, Pathology, medicine.medical_specialty, Drug Evaluation, Preclinical, Pilot Projects, Drug Costs, 03 medical and health sciences, Mice, Mice, Neurologic Mutants, 0302 clinical medicine, Double-Blind Method, Medicine, Animals, Humans, Nerve Growth Factors, Amyotrophic lateral sclerosis, Randomized Controlled Trials as Topic, business.industry, Amyotrophic Lateral Sclerosis, medicine.disease, Peptide Fragments, Rats, Disease Models, Animal, 030104 developmental biology, Treatment Outcome, Neurology, Neurology (clinical), business, Oligopeptides, 030217 neurology & neurosurgery
Published: 2016

94. Prospective exploratory muscle biopsy, imaging, and functional assessment in patients with late-onset Pompe disease treated with alglucosidase alfa: The EMBASSY Study

Author: Matthias Boentert, Volker Straub, Loren D.M. Pena, Peter Young, Beth L. Thurberg, Ans T. van der Ploeg, Robert Carlier, Alan Pestronk, Stephan Wenninger, Richard J. Barohn, Ozlem Goker-Alpan, Stephan C.A. Wens, Benedikt Schoser, Zachary Simmons, Carl Bjartmar, Michela Guglieri, Mazen M. Dimachkie, Raheel Shafi, John T. Kissel, Pierre Yves Baudin, Pierre G. Carlier, Tahseen Mozaffar, Pediatrics, and Neurology
Subjects: 0301 basic medicine, Muscle tissue, Adult, Male, medicine.medical_specialty, Pathology, Endocrinology, Diabetes and Metabolism, Biopsy, Population, Urology, Biochemistry, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, Endocrinology, medicine, Genetics, Humans, Respiratory function, Enzyme Replacement Therapy, Age of Onset, education, Muscle, Skeletal, Alglucosidase alfa, Molecular Biology, Physical Therapy Modalities, Aged, education.field_of_study, Muscle biopsy, medicine.diagnostic_test, Glycogen, business.industry, Glycogen Storage Disease Type II, Skeletal muscle, alpha-Glucosidases, Enzyme replacement therapy, Middle Aged, Magnetic Resonance Imaging, 030104 developmental biology, medicine.anatomical_structure, Treatment Outcome, chemistry, Female, business, 030217 neurology & neurosurgery, medicine.drug
Abstract: Background Late-onset Pompe disease is characterized by progressive skeletal myopathy followed by respiratory muscle weakness, typically leading to loss of ambulation and respiratory failure. In this population, enzyme replacement therapy (ERT) with alglucosidase alfa has been shown to stabilize respiratory function and improve mobility and muscle strength. Muscle pathology and glycogen clearance from skeletal muscle in treatmen t -naive adults after ERT have not been extensively examined. Methods This exploratory, open-label, multicenter study evaluated glycogen clearance in muscle tissue samples collected pre- and post- alglucosidase alfa treatment in treatment-naive adults with late-onset Pompe disease. The primary endpoint was the quantitative reduction in percent tissue area occupied by glycogen in muscle biopsies from baseline to 6months. Secondary endpoints included qualitative histologic assessment of tissue glycogen distribution, secondary pathology changes, assessment of magnetic resonance images (MRIs) for intact muscle and fatty replacement, and functional assessments. Results Sixteen patients completed the study. After 6months of ERT, the percent tissue area occupied by glycogen in quadriceps and deltoid muscles decreased in 10 and 8 patients, respectively. No changes were detected on MRI from baseline to 6months. A majority of patients showed improvements on functional assessments after 6months of treatment. All treatment-related adverse events were mild or moderate. Conclusions This exploratory study provides novel insights into the histopathologic effects of ERT in late-onset Pompe disease patients. Ultrastructural examination of muscle biopsies demonstrated reduced lysosomal glycogen after ERT. Findings are consistent with stabilization of disease by ERT in treatment-naive patients with late-onset Pompe disease.
Published: 2016

95. List of Contributors

Author: William Ankenbrandt, Isabel Arrillaga-Romany, K.K. Atsina, Chaitra A. Badve, J.M. Baehring, Randall Lawrence Baldassarre, Wenya Linda Bi, Peter M. Black, Ingrid B. Boehm, Genevieve Bolles, Eric C. Bourekas, Nicole Petrovich Brennan, Marc Bussiere, Soonmee Cha, Arnab Chakravarti, Marc C. Chamberlain, Susan M. Chang, Paul H. Chapman, Clark C. Chen, Susan N. Chi, D. Chourmouzi, Gregory A. Christoforidis, Ugonma Chukwueke, Jennifer L. Clarke, John M. Collins, L. Celso Hygino da Cruz, Parviz Dolati, A. Drevelegas, K. Drevelegas, Sylvia Eisele, Shehanaz Ellika, Mark A. Ferrante, Nicholas C. Ferraro, Ryan Fisicaro, Alexandra J. Golby, Carlos R. Goulart, Michael Guiou, Nilendu Gupta, Nobuhiko Hata, David Hearshen, John W. Henson, Johannes T. Heverhagen, Andrei Holodny, Tudor Hesketh Hughes, Masanori Ichise, Michael E. Ivan, Rajan Jain, Ferenc A. Jolesz, Justin T. Jordan, Kacher Daniel, Alayar Kangarlu, Arash Kardan, Marie Foley Kijewski, Margareth Kimura, John T. Kissel, Ricardo J. Komotar, George Krol, Priya Kumthekar, Joshua Lantos, Emilie Le Rhun, Michael H. Lev, Jay S. Loeffler, Stephan E. Maier, Lonika Majithia, Tobias A. Mattei, Brendan J. McCullough, Ehud Mendel, Tom Mikkelsen, Vesselin Z. Miloushev, Pedro C. Miranda, Michelle Monje, Prashant Nagpal, Ken Alexander Nakanote, Herbert B. Newton, Erik B. Nine, Nancy Ann Oberheim Bush, Olutayo Olubiyi, S.B. Omay, Nina Paleologos, N. Papanicolaou, Kunal S. Patel, Tina Young Poussaint, Sanjay P. Prabhu, Jinrong Qu, Jeffrey J. Raizer, Haricharan Reddy, Tanvir Rizvi, Lisa R. Rogers, Martin Satter, Mithun G. Sattur, David Schiff, Kathleen Schmainda, Andrew D. Schweitzer, Victoria Michelle Silvera, H. Wayne Slone, James Snyder, Aaron D. Sodickson, Daniel K. Sodickson, Lilja Bjork Solnes, Maria Vittoria Spampinato, Yanping Sun, Sophie Taillibert, Ion-Florin Talos, Suzanne Tharin, Achala Vagal, Steven Vernino, Michael A. Vogelbaum, Arastoo Vossough, Steve Walston, Simon K. Warfield, Michael A. Weicker, D. Bradley Welling, Cornelia Wenger, Patrick Y. Wen, Max Wintermark, Eric T. Wong, E. Xinou, Edward Yang, Randy Yeh, Geoffrey S. Young, Robert J. Young, and Alicia M. Zukas
Published: 2016
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96. Neoplastic Plexopathies

Author: John T. Kissel and Mark A. Ferrante
Subjects: medicine.medical_specialty, Plexus, business.industry, Schwannoma, medicine.disease, Malignancy, Sacral plexus, Surgery, Meningioma, Lumbar, Quality of life, medicine, Neurofibroma, business
Abstract: Neoplastic processes may involve the cervical, brachial, lumbar, or sacral plexus. Because these four plexuses provide innervation to the shoulder and pelvic girdles and all four extremities, neoplastic plexopathies typically produce significant adverse effects on quality of life. Moreover, when unrecognized, diagnostic and therapeutic delays further negatively affect quality of life and outcome. Although most individuals with neoplastic plexopathies are known to harbor a malignancy or to have advanced neoplastic spread, a minority present with plexus involvement. Thus, to improve quality of life and survival, physicians caring for these patients must understand plexus anatomy, the clinical features associated with neoplastic plexopathies, and the radiologic, oncologic, genetic, and surgical advances in their diagnosis and treatment. Although survival is often less than 2 years, the importance of pain relief, prevention of neuromuscular complications, and maximization of remaining neuromuscular function cannot be overemphasized.
Published: 2016
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97. Role of disease severity, illness perceptions, and mood on quality of life in muscle disease

Author: Reza Sadjadi, Tayyaba Akhtar, Carlayne E. Jackson, Shree Pandya, John Weinman, John T. Kissel, and Michael R. Rose
Subjects: medicine.medical_specialty, Coping (psychology), genetic structures, Physiology, business.industry, media_common.quotation_subject, Psychological intervention, Hospital Anxiety and Depression Scale, behavioral disciplines and activities, humanities, Illness perceptions, Cellular and Molecular Neuroscience, Mood, Physiology (medical), Perception, Severity of illness, Medicine, Neurology (clinical), business, Psychiatry, Psychosocial, media_common
Abstract: Introduction: The aim of this study was to describe the effect of muscle disease upon QoL and to explore the influence of disease severity, mood, and illness perception on the QoL of these patients. Methods: Validated questionnaires assessing QoL (Individualized Neuromuscular QoL and SF-36), disease severity (Health Assessment Questionnaire), mood (Hospital Anxiety and Depression Scale) and illness perception (Illness Perception Questionnaire) were sent to adults with muscle disease. Results: We received 302 responses (return rate 75%). QoL was reduced, particularly for “physical” domains, but “psychological” domains were also affected. Disease severity was the main determinant for the “physical” domains of QoL, but mood and illness perception played a part. Conversely, mood and illness perception were the main determinants for the “psychological” domains of QoL. Conclusions: Because mood and illness perception explain significant variance in QoL in muscle disease, there is scope for devising psychosocial interventions that may improve QoL for those with muscle disease. Muscle Nerve 46: 351–359, 2012
Published: 2012
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98. ALSUntangled No. 16: Cannabis

Author: Daniel M. Pastula, Jim Wymer, Michael H. Rivner, Mazen M. Dimachkie, James A. Russell, Steve Kolb, Gary L. Pattee, Muddasir Quereshi, Kathy Mitchell, Noah Lechtzin, Pamela Kittrell, Leo McClusky, Larry Phillips, Melanie Leitner, Hubert Kwieciński, Nicholas Marigakis, Dan Moore, Robert Bowser, Janice Robertson, Yunxia Wang, Carlayne E. Jackson, Todd Levine, James Heywood, Steven Nash, Steven Novella, Carmel Armon, Tahseen Mozaffar, Eric J. Sorenson, Catherine Lomen-Hoerth, Tulio E. Bertorini, Orla Hardiman, Daniel MacGowan, Kate Dalton, Jeremy M. Shefner, Vivian E. Drory, Robert G. Miller, Terry Heiman-Patterson, Dallas Forshew, Megan Grosso, Jonathan Goldstein, John Ravits, Sith Sathornsumetee, George Sachs, Paul Wicks, Jonathan D. Glass, David Saperstein, James Caress, Josep Gamez, Jeffrey D. Rothstein, Hiroshi Mitsumoto, Erik P. Pioro, Jeff Dietz, Michael J. Strong, Lewis P. Rowland, Alexander Sherman, Michael Benatar, Jonathan Licht, Meraida Polak, Michael D. Weiss, Jon Baker, Lisa Kinsley, Katherine Tindall, Stacy A. Rudnicki, Kevin Boylan, Ashok Verma, Robin Conwit, Peter M Andersen, Christen Shoesmith, John T. Kissel, Khema Sharma, Nazem Atassi, Bjorn Oskarsson, Rup Tandan, Richard Bedlack, Ginna Gonzalez, and Bonnie Gerecke
Subjects: medicine.medical_specialty, biology, Cannabinoids, business.industry, Amyotrophic Lateral Sclerosis, Marijuana Smoking, General Medicine, biology.organism_classification, medicine.disease, Neurology, Humans, Immunologic Factors, Medicine, Neurology (clinical), Cannabis, Amyotrophic lateral sclerosis, business, Psychiatry
Published: 2012
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99. AVXS-101 phase 1 gene therapy clinical trial in SMA Type 1: patients treated early with the proposed therapeutic dose were able to sit unassisted at a younger age

Author: Brian K. Kaspar, J. Mendell, C. Wells, Kathrin Meyer, Richard Shell, William Arnold, K. Church, Samiah Al-Zaidy, Louise R. Rodino-Klapac, Linda Lowes, S. Likhite, Kevin D. Foust, S. Nagendran, Lindsay N. Alfano, James L’Italien, T. Prior, A. H. M. Burghes, John T. Kissel, K. Berry, and Douglas M. Sproule
Subjects: 0301 basic medicine, medicine.medical_specialty, Younger age, business.industry, Genetic enhancement, 030105 genetics & heredity, SMA, Surgery, Clinical trial, 03 medical and health sciences, 0302 clinical medicine, Therapeutic index, Neurology, Internal medicine, Pediatrics, Perinatology and Child Health, medicine, Neurology (clinical), business, 030217 neurology & neurosurgery, Genetics (clinical)
Published: 2017
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100. Identification of variants that affect severity of the spinal muscular atrophy phenotype within and outside of the SMN2 gene

Author: Valeria A. Sansone, Jennifer Roggenbuck, P. Snyder, John T. Kissel, C. Ruhno, T. Prior, Vicki L. McGovern, and A. H. M. Burghes
Subjects: Neurology, Pediatrics, Perinatology and Child Health, medicine, Identification (biology), Neurology (clinical), Spinal muscular atrophy, Biology, medicine.disease, Affect (psychology), Bioinformatics, Phenotype, Gene, Genetics (clinical)
Published: 2017
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