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Wednesday, April 20 Poster Session 8:30 a.m.–7:00 p.m. 8:30 a.m.–7:00 p.m. Poster Session P5 Poster Session V Poster Discussion Session: Neuromuscular and Clinical Neurophysiology Presenters Stand by Posters 5:30 p.m.–7:00 p.m. Eight abstracts have been selected for presentation during a poster discussion session. Authors will present a 5-minute data blitz presentation. In addition to the regular poster time, authors also have a specific time slot over lunch. Times below are standard across poster sessions. Discussion: 11:45 a.m.–11:50 a.m. P5.001 Evaluation of Mitochondrial Function in CHCHD10 Mutation —Jianhua Yan, Kreshnik Ahmeti, Nailah Siddique, Eanna Barra Ryan, Thomas John Lukas, Han-Xiang Deng, Lisa M Kinsley, Shi Yong, Yi Yang, Ma Yongchao, Miller Nimrod, Nicola Corbett, Daniel Nicholson, Teepu Siddique Discussion: 11:50 a.m.–11:55 a.m. P5.002 Ataluren Confirmatory Trial in DMD: Effect of Ataluren on Activities of Daily Living in Nonsense Mutation Duchenne Muscular Dystrophy —Ros Quinlivan, Xiaohui Luo, G. Elfring, Hans Kroger, Peter Riebling, Tuyen Ong, Robert Spiegel, Stuart Peltz, Jan Kirschner Discussion: 11:55 a.m.–12:00 p.m. P5.003 Adaptive Design Single Center Phosphodiesterase Type 4 (PDE4) Inhibitor - Ibudilast (MN-166-ALS-1201) Phase 1b/2a Clinical Trial Double-Blind (DB) with Open Label Extensions (OLE) [ NCT02238626 ] for Amyotrophic Lateral Sclerosis (ALS) Patients [1] Not Requiring Non-Invasive Ventilation (no-NIV) Up to 5 Years (Early Cohort-EC) and [2] Requiring Non-Invasive Ventilation (NIV) Up to 10 Years(Advanced NIV Cohort- ANC) from Disease Onset - Behavior of Creatinine As a Biomarker in Short Clinical Trials —Benjamin Brooks, Elena Bravver, Mohammed Sanjak, Velma Langford, Donna Graves, Linda Moore, Cynthia Lary, Allison Newell-Sturdivant, Priscilla Russo, Maryanne Burdette, Nicole Lucas, Charity Patterson, William Anderson, William Bockenek, Urvi Desai, Scott Lindblom, Joanna Dojillo, Kazuko Matsuda, Yuichi Iwaki Discussion: 12:00 p.m.–12:05 p.m. P5.004 Interim Results of a Phase 2 Clinical Study of Nusinersen (ISIS- SMNRx) in Patients with Infantile-Onset Spinal Muscular Atrophy —Richard Finkel, Claudia Chiriboga, Jiri Vajsar, John Day, Jacqueline Montes, Darryl De Vivo, Mason Yamashita, Frank Rigo, Gene Hung, Eugene Schneider, Daniel Norris, Shuting Xia, Frank Bennett, Kathie Bishop Discussion: 12:05 p.m.–12:10 p.m. P5.005 A Comparison of the Effects of Deflazacort and Prednisone Versus Placebo on Timed Functional Tests in Boys with Duchenne Muscular Dystrophy — James Meyer, Timothy Cunniff, Stephen Wanaski, Jordan Dubow Discussion: 12:10 p.m.–12:15 p.m. P5.006 Should Motor Function Determine the Timing of Scoliosis Surgery in Spinal Muscular Atrophy (SMA)? —Sally Dunaway Young, Jacqueline Montes, Rachel Salazar, Allan Glanzman, Amy Pasternak, Janet Quigley, Elizabeth Ciurylo, Susan Riley, William Martens, Richard Gee, Tina Duong, Matthew Civitello, Claudia Chiriboga, Gihan Tennekoon, John Day, Richard Finkel, Basil Darras, Darryl De Vivo Discussion: 12:15 p.m.–12:20 p.m. P5.007 Electrical Impedence Myography Correlates to Muscle Pathology on MRI and in Muscle Biopsies in Facioscapulohumeral Muscular Dystrophy Type 1 —Melanie Glenn, Omar Jawdat, Ahmad Abuzinadah, Duaa Jabari, Phil Lee, Ayla McCalley, Laura Herbelin, April McVey, Mamatha Pasnoor, Mazen Dimachkie, Richard Barohn, Jeffrey Statland Discussion: 12:20 p.m.–12:25 p.m. P5.008 Hu Antigen R Is a Positive Regulator of ALS-Associated RNA Binding Proteins TDP-43 and FUS —Liang Lu, Lei Zheng, Ying Si, Peter King e-Poster Session: Neuromuscular Disease and Epilepsy Ten e-posters in six neurologic topics have been selected for on-site, interactive display. e-Posters will be grouped in a separate area where attendees are invited to explore more deeply through touch screen displays. P5.009 Comparing Anti-Epileptic Drug Preferences Between Neurologists and Patients: Results from a National Survey and Discrete Choice Experiment —Alan Ettinger, Fulton Velez, John Carter P5.010 RTMS Induces Changes in FDG Brain Metabolism in Patients with Epilepsy —Laura Seynaeve, Bliede Van den Broeck, Patrick Dupont, Karolien Goffin, Wim Van Paesschen P5.011 Validating StatNet EEG As a Reliable and Effective Tool in the Diagnosis of Non-Convulsive Status Epilepticus: Phase 2 —Alexandra Voll, Dianne Dash, Wes Sutherland, Lizbeth Hernandez-Ronquillo, Jose Tellez Zenteno, Farzad Moien Afshari P5.012 Status Epilepticus in Patients with SMART —Pei'En Fan, Heiber Gabriel, Elizabeth Gerard, Stephan Schuele P5.013 Response to IVIG in Patients with CIDP: The INSIGHTS Quality Improvement Registry —Todd Levine, Jonathan Katz, Richard Barohn, David Saperstein, Gil Wolfe, Lara Katzin, Tahseen Mozaffar, Mazen Dimachkie, Gary Badger, Leslie Vaughn, Elissa Ritt, Michelle Greer P5.014 Ultrasound Is a Sensitive Technique to Detect Fasciculations of Cranial Muscles in Amyotrophic Lateral Sclerosis (ALS)—Cullen O'Gorman, Charles Kassardjian, Michael Baria, Janneke Weikamp, Nens Van Alfen, Andrea Boon P5.015 Structural Brain MRI Abnormalities in Kennedy's Disease — Pilar Maria Ferraro, Federica Agosta, Giorgia Querin, Nilo Riva, Cinzia Bertolin, Elisa Da Re, Massimiliano Copetti, Giancarlo Comi, Andrea Falini, Gianni Soraru, Massimo Filippi P5.016 The Novel M.9997 T>A TRNA Gly Variant Causes Multisystem Mitochondrial Disease Including Myopathy, Neuropathy, Cardiomyopathy, Intestinopathy and Nephropathy — Jennifer Roggenbuck, Alexandra Ilacqua, Adam Aubuchon, John Kissel P5.017 Persistent Intraoperative Neurophysiologic Monitoring Changes in Scoliosis Surgery Correlate with Postoperative Deficits —Viet Nguyen, Hazel Shen, Charles Cho, Scheherazade Le, Leslie Lee, Jaime Lopez P5.018 Role of MRI STIR Sequence in Inflammatory Muscle Disease to Increase the Diagnostic Yield and As a Radiological Biomarker in Monitoring Disease Course —Balakrishnan Shankar, Lakshmi Narasimhan Ranganathan, Kesavamurthy Bhanu Genetics of Peripheral Neuropathies P5.019 Genotype-Phenotype Relationships in Peripheral Neuropathies: Challenging the ‘Status Quo’ —Tracy Brandt, Courtney Downtain Pickersgill, Sharon Suchy P5.020 Novel Intragenic Duplication of MFN2 Gene Cause CMT2A with Considerable Phenotypic Variability — Gyula Acsadi, Sylvia Ounpuu, Agnes Jani- Acsadi P5.021 Neuropathy Associated HSPB1 Mutations Result in Loss of Neuroprotection in an In Vitro Model of Astrocyte Toxicity to Motor Neurons — Patrick Heilman, SungWon Song, Carlos Miranda, Kathrin Meyer, Che Best, Brian Kaspar, Stephen Kolb P5.022 Variants in Four Genes on Chromosome 12 Is Associated with Intermediate Charcot-Marie-Tooth Disease —Geir Braathen, Helle Høyer, Øyvind Busk, Kristian Tveten, Camilla Skjelbred, Michael Russell 112 2016 AAN Annual Meeting Abstract Listing
Presenters Stand by Posters 5:30 p.m.–7:00 p.m. P5.023 Clinical and Genetic Assessment in Korean Patients with Congenital Insensitivity to Pain with Anhidrosis —Tai-Seung Nam, Seung-Han Lee, Sang-Jun Park, Jae-Hwan Choi, Myeong- Kyu Kim, Sung-Taek Jung, Seok-Yong Choi P5.024 Clinical and Genetic Heterogeneity in Charcot-Marie-Tooth Neuropathy Type 2 Patients from Turkey —Hacer Durmus, Halil Ibrahim Akcay, Merve Sivaci, Piraye Serdaroglu, Feza Deymeer, Esra Battaloglu, Yesim Parman P5.025 Erythromelalgia: A Novel Mutation in SCN9A Causing Chronic Neuropathic Burning Feet Syndrome Without Classic Skin Findings —Jigar Mankad, Chamindra Konersman P5.026 Clinical and Mutation Analysis of GAP Junction Beta 1 (GJB1) Gene in Brazilian Patients with the Diagnosis of X-Linked Type 1 Charcot-Marie-Tooth Disease (CMTX1) —Eduardo Uchoa Cavalcanti, Maria Cristina Freitas, Savana Camilla Santos, Carlos Eduardo Martins, Osvaldo Nascimento P5.027 A Novel CMT2P Missense Mutation in the RING Domain of LRSAM1 Impairs the Nuclear Transport of FUS — Sezgi Arpag, Bo Hu, Brett Parker, Audra Hamilton, Robin Yawn, Jane Howard, William Burnette, Stephan Zuchner, Jun Li P5.028 Recurrent Episodes of Stroke-Like Symptoms in a Patient with Charcot-Marie-Tooth Neuropathy X Type 1 (CMTX1) —Ning Wu, Sarita Said Said, Shyamsunder Sabat, Matthew Wicklund, Mark Stahl P5.029 Severe Neuropathic Pain Syndrome, with Ulceromutilating Neuropathy and Spastic Paraparesis, Associated with the P.Ala354Pro Variant in ATL1 —Neha Khade, Catherine Ashton, Mark Davis, Wally Knezevic, Merrilee Needham Pathomechanism and Biomarkers in Muscle Diseases and Myasthenia P5.030 Clinicopathological Features of Anti-NT5c1A Positive Patients in the Group of Myositis Patients with CD8- MHC-1 Complex Pathology —Chiseko Ikenaga, Meiko Maeda, Shoji Tsuji, Jun Shimizu P5.031 NKG2D - IL-15 Signaling Is Critically Involved in the Pathogenesis of Inflammatory Myopathies —Tobias Ruck, Ali Afzali, Stefan Bittner, Heinz Wiendl, Sven Meuth P5.032 Effect of Deflazacort and Prednisone on Muscle Enzymes in the Treatment of Duchenne Muscular Dystrophy —Jordan Dubow, Stephen Wanaski, Timothy Cunniff, James Meyer P5.033 Post Insulin Receptor Signalling Abnormalities Contribute to Insulin Resistance in Myotonic Dystrophies — Giovanni Meola, Valentina Renna, Sara Iachettini, Barbara Fossati, Lorenzo Saraceno, Roberto Colombo, Rosanna Cardani P5.034 The Compromised Fidelity of B Cell Tolerance Checkpoints Contributes to Autoimmunity in Myasthenia Gravis — Panos Alexis Stathopoulos, Jae-Yun Lee, Sasha Gupta, Jing-Li Shan, Elizabeth Cotzomi, Richard Barohn, Mazen Dimachkie, Luis Querol, Henner Morbach, Jason Bannock, Casey Lee, Patrick Waters, Richard Nowak, Kevin O'Connor P5.035 Predictive Value of Single- Fiber EMG in Orbicularis Oculi Muscle To Treatment in Patients with Seronegative Ocular Myasthenia: A Series of Hundred Forty Two Patients —Goran Rakocevic, Mary Kay Floeter P5.036 Measuring Clinical Efficacy of Azathioprine in Myasthenia Gravis with Mean Corpuscular Volume —Ning Yang, Qin Li Jiang P5.037 Effect of Deflazacort and Prednisone Versus Placebo on Pulmonary Function in Boys with Duchenne Muscular Dystrophy Who Have Lost Ambulation — Jordan Dubow, Timothy Cunniff, Stephen Wanaski, James Meyer P5.038 Should the Use of the Extended Myositis Antibody (EMA) Panel Be Part of the Routine Work-Up in Suspected Myositis? —Antoinette O' Connor, Jennifer Mulhall, Sinead Harney, John Ryan, Grainne Murphy, Michael Henry, Peter Annis, Aisling Ryan Biomarkers and Clinical Features of Motor Neuron Disease and Biomarkers in Peripheral Nerve Disorders P5.039 Biomarkers Reflect ALS Clinical Courses —Siw Johannesen, Dobri Baldaranov, Andrei Khomenko, Thomas Grimm, Ines Kobor, Tina Kammermaier, Jochen Grassinger, Sabine Klatt, Jan Kassubek, Michael Deppe, Gerhard Schuirer, Albert Ludolph, Wilhelm Schulte-Mattler, Isabeau Prémont-Schwarz, Armin Schneider, Tim-Henrik Bruun, Ulrich Bogdahn P5.040 Potential Immune Biomarkers for Disease Progression in ALS —Weihua Zhao, David Beers, Jason Thonhoff, Dan Neal, Shixiang Wen, Jinghong Wang, Stanley Appel P5.041 Changes in Motor Unit Number Estimate and Forced Vital Capacity As Predictors of ALS Progression —Nicholas Olney, Michael Kohn, Catherine Lomen- Hoerth, Richard Olney P5.042 Skeletal Muscle MicroRNAs 206 and 424 Are Prognostic Markers in Amyotrophic Lateral Sclerosis (ALS) — Milena de Albuquerque, Helen Andrade, Simoni Avansini, Benilton Carvalho, Iscia Lopes-Cendes, Anamarli Nucci, Marcondes Franca, Jr. P5.043 Retinal Degeneration Detectable by Optical Coherence Tomography As a Potential Biomarker for Amyotrophic Lateral Sclerosis —Darin Rosen, Annabel Boeke, Jacqueline Bernard P5.044 Hemoglobin Levels Improve Following Switch from Intravenous to Subcutaneous Administration of Immunoglobulin in CIDP and MMN — Ingelise Christiansen, Johannes Jakobsen, Lars Markvardsen P5.045 Biomarkers for Rapid Progression in Familial Amyloid Neuropathy —Sung-Tsang Hsieh, Chi-Chao Chao P5.046 In-Vivo Reflectance Confocal Microscopy of Meissner’s Corpuscles As an Objective Measure of Diabetic Polyneuropathy —Peter Creigh, Janet Sowden, David Herrmann Genetics of Hereditary Motor Neuron Disease and Spastic Paraplegia P5.047 Whole Exome Sequencing of Familial ALS and Trios of Sporadic ALS to Identify New Genes Associated with ALS —Kushtrim Ahmeti, Kreshnik Ahmeti, Jianhua Yan, Faisal Fecto, Nailah Siddique, Margaret Pericak-Vance, Han-Xiang Deng, Teepu Siddique P5.048 Immunohistochemical Analysis of ErbB4 in the Transgenic Mouse Model of Amyotrophic Lateral Sclerosis —Yuji Takahashi, Yurika Numata-Uematsu, Seiichi Nagano, Chihiro Matsumoto, Terunori Sano, Miho Murata, Yuko Saito P5.049 Genetic Background of the Hereditary Spastic Paraplegia Phenotypes in Hungary —Maria Molnar, Peter Balicza, Zoltan Grosz, Michael Gonzalez, Renata Bencsik, Klara Pentelenyi, Aniko Gal, Edina Varga, Peter Klivenyi, Stephan Zuchner P5.050 Results from a Multi-Gene NGS Panel for Hereditary Spastic Paraplegia —Jody Westbrook, Christopher Tan, Marina Rabideau, Shan Yang, Tom Winder P5.051 Clinical and Neuropathological Study of an Autopsied Case of Familial ALS with SOD1 Mutation with Very Long Survival —Yo-ichi Takei, Kenya Ogichi, Taka-aki Miyahira, Akiyo Hineno, Akinori Nakamura, Shinji Ohara, Yoshiaki Furukawa P5.052 The Genetic Signature of Sex Chromosome-Related Mutations Expressing As a Neurodegenerative Disorders: Rarity, Randomness or Underestimation? —Fernando Santos Pinheiro, Keith McAvoy, Kenneth Fischbeck, Elijah Stommel P5.053 Study of Intermediate-Length PolyQ Repeats in Sporadic and Familial Amyotrophic Lateral Sclerosis —Felix Nunez-Santana, Jianhua Yan, Eanna Ryan, Jessica Lowry, Nailah Siddique, Teepu Siddique P5.054 Clinical and Genetic Heterogeneity in Familial ALS Patients from Turkey —Hacer Durmus, Mine Sezgin, Bedia Marangozoglu Samanci, Aslihan Ozoguz, Feza Deymeer, Piraye Serdaroglu, Nazli Basak, Yesim Parman P5.055 Comparison of the Diagnostic Yield of Comprehensive and Phenotypically Driven Multi-Gene Panels for Neuromuscular Disorders —Amanda Lindy, Margaret Bradbury, Sharon Suchy, Dianalee McKnight P5.056 Atypical Electropherogram Patterns Are Observed Among C9orf72 (G4C2) Expansion Carriers in a Familial and Sporadic ALS and ALS/FTD North American Cohort Study —Jessica Lowry, Jianhua Yan, Farnoosh Feiz, Yi Yang, Lisa Kinsley, Nailah Siddique, Han-Xiang Deng, Teepu Siddique P5.057 Characterization of Gait and Fatigue in Children and Adults with Spinal Muscular Atrophy Using Instrumented Footwear —Jacqueline Montes, Damiano Zanotto, Sally Dunaway, Rachel Salazar, Darryl De Vivo, Sunil Agrawal Hereditary Muscle Diseases: Genetics and Phenotype P5.058 WITHDRAWN P5.059 Potential Mechanisms for Prolonged Loss of Ambulation with Deflazacort in Duchenne Muscular Dystrophy - Tolerability Profile and Effects on Growth —Timothy Cunniff, Stephen Wanaski, Jordan Dubow, James Meyer P5.060 Isolated Triceps Myositis As an Initial Presentation of Pompe Disease — Tyler Koehn, Jeffrey McClean, Patrick Grogan P5.061 Beta Sarcoglycanopathy Caused by a New Mutation in a Palestinian Family —Ricardo Madrid P5.062 The Core Protein to Myogenesis NFAT5 Forms Aggresomes in Normal and Duchenne Muscular Dystrophy Myotubes Exposed to Cell Stressors —Sandrine Herbelet, Elly De Vlieghere, Gert Van Peer, Boel De Paepe, Eline Nys, Laurens Weynants, Jo Vandesompele, Olivier De Wever, Jens Schmidt, Jan De Bleecker P5.063 Recognizing Congenital Myopathy in an Adult - A Case Report — Carla Grosmann, Kara Jones P5.064 Case of Recurrent, Severe Rhabdomyolysis with Chronic Pain and Dysphagia Cause by Novel Mutation in RYR1 Gene —Jigar Mankad, Michael Collins, Serena Thompson, David Bick, Alison La Pean Kirschner P5.065 Cardiac Conduction Defects in Oculopharyngeal Muscular Dystrophy — Naganand Sripathi, Kavita Grover P5.066 Clinical and Molecular Features of Myotonic Dystrophy Type 1 in Peru — Karina Milla-Neyra, Miguel Inca-Martinez, Olimpio Ortega-Davila, Victoria Marca, Indira Tirado-Hurtado, Alex Cabrejo-Bravo, Saul Lindo-Samanamud, Maria-Luiza Saraiva- Pereira, Pilar Mazzetti Soler, Laura Jardim, Mario Cornejo Olivas P5.067 A Premature Stop Codon in MYO18B Is Associated with Severe Nemaline Myopathy with Cardiomyopathy —Edoardo Malfatti, Johann Bohm, Emmanuelle Lacene, Norma Romero, Jocelyn Laporte Wed· April 20 Fast and easy registration · AAN.com/view/AM16 113
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NEW! Dates • Format • Value SCI
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See the value! 2015 Meeting Price 2
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What’s Inside Table of Contents I
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Meeting! INTRODUCTION See You in Va
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Additional Information INTRODUCTION
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OVERVIEWS Mon April 18 Tue April 19
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Schedule Planning Forms Use the con
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My Friday $ A registration fee is r
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Hot Topics Plenary Session Friday,
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$ A registration fee is required L
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Meeting Schedule 6:30 a.m.-8:30 a.m
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Poster Session Schedule and Floorpl
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Meeting Schedule P1.029 Efficacy an
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Presenters Stand by Posters 5:30 p.
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New Faculty and Trainee Reception!
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Meeting Schedule 11:30 a.m.-6:30 p.
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Saturday, April 16 1:00 p.m.-3:00 p
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Meeting Schedule 1:00 p.m.-5:30 p.m
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Meeting Schedule 6:30 a.m.-7:15 a.m
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Sunday, April 17 Scientific Platfor
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Meeting Schedule 1:00 p.m.-5:00 p.m
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Closing Party Happy Hour Thursday,
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Annual Meeting Attendee Pricing: Go
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Disclaimers/Disclosures Disclaimer
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Hotel Reservations Why Book a Hotel
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Sitka Sq Abbott St Ontario St Ontar
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68 th Annual Meeting Exhibitors as
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68 th Annual Meeting Planning Meeti
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Jonathan S. Katz, MD Jori Fleisher,
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AAN Leadership University courses a
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