2014 Annual Meeting | Neuromuscular Disease: Genetics, Pathogenesis, and Measures

Date Thursday 05/01/14

Time 01:00 PM - 02:45 PM Add To Calendar

Session Format This program will be presented both in-person and online

On Demand This program is not expected to be available in the meeting's On Demand product.

Event Type Scientific Platform Session

Topic(s) Neuromuscular and Clinical Neurophysiology (EMG)

CME Available No CME available

Event Timeline
01:00 PM - 02:45 PM	Abstract	001 - Exome Sequencing Identifies PINCH2 Mutations in Early Onset Autosomal Recessive LGMD with Severe Cardiomyopathy and Triangular Tongues
01:00 PM - 02:45 PM	Abstract	002 - Founder mutation in the ?-sarcoglycan gene causes milder phenotype of limb-girdle muscular dystrophy type 2C (LGMD2C) in the Hispanic population of Puerto Rico Samiah A. Al-Zaidy, MD
01:00 PM - 02:45 PM	Abstract	003 - Novel Mutation in VCP Causes Charcot-Marie-Tooth Type 2 (CMT2) Phenotype Shawna Feely, MS, CGC
01:00 PM - 02:45 PM	Abstract	004 - Ethoxyquin prevents development of neuropathy in rodent models of diabetic peripheral neuropathy and HIV-associated neuropathy Ahmet Hoke, MD, PhD, FAAN
01:00 PM - 02:45 PM	Abstract	005 - Monocarboxylate Transporter 1 (MCT1) is Critical for Regeneration in Peripheral Nerves Brett Morrison, MD, PhD
01:00 PM - 02:45 PM	Abstract	006 - Amyotrophic Lateral Sclerosis Quality Measures Robert G. Miller, MD
01:00 PM - 02:45 PM	Abstract	007 - NeuroBANK™ and Global Unique Patient Identifier Allow for Secure Collaboration, Data Aggregation and Sharing Alexander Sherman

Faculty Disclosures
Katherine D. Mathews, MD, FAAN	Dr. Mathews has received personal compensation for serving as an employee of Avidity Bioscience. The institution of Dr. Mathews has received research support from NIH. The institution of Dr. Mathews has received research support from Centers for Disease Control and Prevention. The institution of Dr. Mathews has received research support from Muscular Dystrophy Association . The institution of Dr. Mathews has received research support from Friedreich's Ataxia Research Alliance . The institution of Dr. Mathews has received research support from Sarepta . The institution of Dr. Mathews has received research support from Pfizer. The institution of Dr. Mathews has received research support from Reata . The institution of Dr. Mathews has received research support from PTC Therapeutics, Inc. The institution of Dr. Mathews has received research support from Italfarmaco . The institution of Dr. Mathews has received research support from AMO. The institution of Dr. Mathews has received research support from FibroGen. The institution of Dr. Mathews has received research support from Capricor. The institution of Dr. Mathews has received research support from edgewise. The institution of Dr. Mathews has received research support from biogen.
Emma Ciafaloni, MD, FAAN	Dr. Ciafaloni has received personal compensation in the range of $10,000-$49,999 for serving as a Consultant for Argenx, Alexion, Sarepta, UCB, Hoffman-LaRoche, Biogen. Dr. Ciafaloni has received personal compensation in the range of $5,000-$9,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Novartis, AnnJi Pharmaceutical, ML-BIO, Avidity. The institution of Dr. Ciafaloni has received research support from CDC, CureSMA, FDA, Orphazyme, Sarepta, PCORI, Neurogene. Dr. Ciafaloni has received publishing royalties from a publication relating to health care.
Conrad Weihl, MD, PhD	Dr. Weihl has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Sarepta. Dr. Weihl has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Casma therapeutics. Dr. Weihl has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Abata. Dr. Weihl has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Sarepta. Dr. Weihl has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Sarepta. Dr. Weihl has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Acceleron. Dr. Weihl has received personal compensation in the range of $5,000-$9,999 for serving as an Expert Witness for Wilson Elser Moskowitz Edelman & Dicker LLP.
Peter B. Kang, MD, FAAN	Dr. Kang has received personal compensation in the range of $10,000-$49,999 for serving as a Consultant for Novartis. Dr. Kang has received personal compensation in the range of $5,000-$9,999 for serving as a Consultant for Sarepta Therapeutics. Dr. Kang has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Neurogene. Dr. Kang has received personal compensation in the range of $500-$4,999 for serving as a Consultant for NS Pharma. Dr. Kang has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Teneofour. Dr. Kang has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Lupin. Dr. Kang has received personal compensation in the range of $10,000-$49,999 for serving as an Editor, Associate Editor, or Editorial Advisory Board Member for Wiley. The institution of Dr. Kang has received research support from Xtraordinary Joy Foundation. The institution of an immediate family member of Dr. Kang has received research support from Sarepta Therapeutics. The institution of Dr. Kang has received research support from Centers for Disease Control and Prevention (CDC). The institution of Dr. Kang has received research support from National Institutes of Health (NIH). The institution of Dr. Kang has received research support from Food and Drug Administration. The institution of Dr. Kang has received research support from National Initiative for Cockayne Syndrome. The institution of Dr. Kang has received research support from Greg Marzolf Jr Foundation. An immediate family member of Dr. Kang has received intellectual property interests from a discovery or technology relating to health care. Dr. Kang has received publishing royalties from a publication relating to health care. Dr. Kang has received personal compensation in the range of $5,000-$9,999 for serving as a Medical Advisory Board with National Initiative for Cockayne Syndrome. Dr. Kang has a non-compensated relationship as a Medical Advisory Board with Speak Foundation that is relevant to AAN interests or activities. Dr. Kang has a non-compensated relationship as a TRIAD Council with Hereditary Neuropathy Foundation that is relevant to AAN interests or activities. Dr. Kang has a non-compensated relationship as a President with Child Neurology Society that is relevant to AAN interests or activities. Dr. Kang has a non-compensated relationship as a Board Member with Child Neurology Foundation that is relevant to AAN interests or activities.
	No disclosure on file
Matthew Harms, MD	Dr. Harms has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Biogen. Dr. Harms has received personal compensation in the range of $50,000-$99,999 for serving as a Consultant for Muscular Dystrophy Association. Dr. Harms has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Invitae. Dr. Harms has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Variant Bio. Dr. Harms has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Sarepta. Dr. Harms has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Amylyx. Dr. Harms has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for uniQure. Dr. Harms has received personal compensation in the range of $5,000-$9,999 for serving as an Expert Witness for Littlepage Booth. Dr. Harms has received personal compensation in the range of $500-$4,999 for serving as an Expert Witness for O'Connor First. Dr. Harms has received personal compensation in the range of $500-$4,999 for serving as an Expert Witness for Searcy Denney. Dr. Harms has received personal compensation in the range of $500-$4,999 for serving as an Expert Witness for Ford, Parshall & Baker LLC . The institution of Dr. Harms has received research support from ALS Association. The institution of Dr. Harms has received research support from Ionis. The institution of Dr. Harms has received research support from ALS Finding a Cure. The institution of Dr. Harms has received research support from Target ALS.
Jerry R. Mendell, MD, FAAN	Dr. Mendell has received personal compensation in the range of $10,000-$49,999 for serving as a Consultant for Vertex. Dr. Mendell has received personal compensation in the range of $10,000-$49,999 for serving as a Consultant for Novartis. Dr. Mendell has received personal compensation in the range of $10,000-$49,999 for serving as a Consultant for Sarepta Therapeutics . The institution of Dr. Mendell has received research support from Sarepta.
Vinod Malik	No disclosure on file
Dennis E. Bulman, PhD	No disclosure on file
Basil T. Darras, MD	The institution of Dr. Darras has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Amicus. Dr. Darras has received personal compensation in the range of $0-$499 for serving on a Scientific Advisory or Data Safety Monitoring board for Amicus. The institution of Dr. Darras has received research support from National Institutes of Health/National Institute of Neurological Disorders and Stroke,. The institution of Dr. Darras has received research support from Slaney Family Fund for SMA. The institution of Dr. Darras has received research support from Spinal Muscular Atrophy Foundation. The institution of Dr. Darras has received research support from CureSMA. The institution of Dr. Darras has received research support from Working on Walking Fund . The institution of Dr. Darras has received research support from CHERISH, CS2/CS12 . The institution of Dr. Darras has received research support from Biogen for CS11. The institution of Dr. Darras has received research support from AveXis. The institution of Dr. Darras has received research support from Sarepta Pharmaceuticals. The institution of Dr. Darras has received research support from PTC Therapeutics. The institution of Dr. Darras has received research support from Roche. The institution of Dr. Darras has received research support from Santhera. The institution of Dr. Darras has received research support from Scholar Rock. The institution of Dr. Darras has received research support from Fibrogen. The institution of Dr. Darras has received research support from Summit. Dr. Darras has received publishing royalties from a publication relating to health care. Dr. Darras has received publishing royalties from a publication relating to health care.
John G. Whitesides	John G. Whitesides has received personal compensation for serving as an employee of UCB. John G. Whitesides has received stock or an ownership interest from UCB.
Shawna Feely, MS, CGC	No disclosure on file
Kym Boycott	No disclosure on file
Michael E. Shy, MD, FAAN	Dr. Shy has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Applied Therapeutics. The institution of Dr. Shy has received personal compensation in the range of $10,000-$49,999 for serving as a Consultant for DTx Pharma. The institution of Dr. Shy has received research support from NIH. The institution of Dr. Shy has received research support from Muscular Dystrophy Association. The institution of Dr. Shy has received research support from Charcot Marie Tooth Association. The institution of Dr. Shy has received research support from Applied Therapeutics.
Samiah A. Al-Zaidy, MD	Dr. Al-Zaidy has received personal compensation in the range of $500-$4,999 for serving as a Consultant for AveXis Inc.
Xiomara Q. Rosales, MD	No disclosure on file
Stephan Zuchner, MD, FAAN	Dr. Zuchner has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Applied Therapeutics. The institution of Dr. Zuchner has received research support from Muscular Dystrophy Association. The institution of Dr. Zuchner has received research support from CMT Association. Dr. Zuchner has received intellectual property interests from a discovery or technology relating to health care.
John Woulfe, MD, PhD	No disclosure on file
Adam B. Cohen, MD	Dr. Cohen has received personal compensation in the range of $10,000-$49,999 for serving as a Consultant for Thirty Madison. Dr. Cohen has received stock or an ownership interest from Thirty Madison.
Gregory T. Carter, MD	No disclosure on file
Benjamin R. Brooks, MD, FAAN	Dr. Brooks has received personal compensation in the range of $10,000-$49,999 for serving as a Consultant for Mitsubishi Tanabe Pharma America. Dr. Brooks has received personal compensation in the range of $10,000-$49,999 for serving as a Consultant for Medicinova. Dr. Brooks has received personal compensation in the range of $10,000-$49,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Biogen. Dr. Brooks has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for AB Science. Dr. Brooks has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Ionis. Dr. Brooks has received personal compensation in the range of $500-$4,999 for serving on a Speakers Bureau for Mitsubishi Tanabe Pharma America. Dr. Brooks has received personal compensation in the range of $500-$4,999 for serving on a Speakers Bureau for Muscular Dystrophy Association. The institution of Dr. Brooks has received research support from Mitsubishi TanabePharma America. Dr. Brooks has received personal compensation in the range of $0-$499 for serving as a Member Annual Surveillance Committee CDC National ALS Registry with Center for Disease Control Agency Toxic Substances Disease Registry. Dr. Brooks has a non-compensated relationship as a Member ALS Quality Measures Subcommittee with American Academy of Neurology that is relevant to AAN interests or activities.
Ahmet Hoke, MD, PhD, FAAN	Dr. Hoke has received personal compensation in the range of $50,000-$99,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Disarm. Dr. Hoke has received personal compensation in the range of $10,000-$49,999 for serving as an Editor, Associate Editor, or Editorial Advisory Board Member for Elsevier. Dr. Hoke has received personal compensation in the range of $5,000-$9,999 for serving as an Editor, Associate Editor, or Editorial Advisory Board Member for Annals of Clinical and Translational Neurology. Dr. Hoke has received personal compensation in the range of $5,000-$9,999 for serving as an Expert Witness for Burke and Thomas. Dr. Hoke has received stock or an ownership interest from Axoprotego Therapeutics. The institution of Dr. Hoke has received research support from NIH. The institution of Dr. Hoke has received research support from DOD. The institution of Dr. Hoke has received research support from Dr. Miriam and Sheldon G. Adelson Medical Research Foundation. The institution of Dr. Hoke has received research support from Foundation for Peripheral Neuropathy. Dr. Hoke has received intellectual property interests from a discovery or technology relating to health care.
Richard M. Dubinsky, MD, MPH, FAAN	Dr. Dubinsky has received personal compensation in the range of $10,000-$49,999 for serving as a Consultant for Allergan Pharmaceuticals. An immediate family member of Dr. Dubinsky has stock in Abbvie and Abbott Labs. The institution of Dr. Dubinsky has received research support from CHDI. The institution of Dr. Dubinsky has received research support from Neurocrine. The institution of Dr. Dubinsky has received research support from Prilenia. The institution of Dr. Dubinsky has received research support from Sage Pharmaceuticals.
Dallas A. Forshew	No disclosure on file
Robert G. Miller, MD	The institution of Dr. Miller has received research support from Nurown.
William J. Herring, MD, PhD	No disclosure on file
Rebecca Swain-Eng	No disclosure on file
Carlayne E. Jackson, MD, FAAN	Dr. Jackson has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Mitsubishi Tanabe Pharma America. Dr. Jackson has received personal compensation in the range of $100,000-$499,999 for serving as an officer or member of the Board of Directors for AAN.
Edward J. Kasarskis, MD, PhD, FAAN	The institution of Dr. Kasarskis has received research support from Healey Platform Trial Group. The institution of Dr. Kasarskis has received research support from Amylyx . The institution of Dr. Kasarskis has received research support from Alexion. The institution of Dr. Kasarskis has received research support from Woolsey . Dr. Kasarskis has a non-compensated relationship as a Director of ALSA-supported clinic at the University of Kentucky with ALS Association that is relevant to AAN interests or activities.
Mohammed S. Sanjak, PhD	No disclosure on file
Jeffrey D. Rothstein, MD, PhD	Dr. Rothstein has received personal compensation in the range of $5,000-$9,999 for serving as a Consultant for Expansion Therapeutics. Dr. Rothstein has received personal compensation in the range of $5,000-$9,999 for serving as an Editor, Associate Editor, or Editorial Advisory Board Member for Journal Clinical Investigation. The institution of Dr. Rothstein has received research support from ALSA. The institution of Dr. Rothstein has received research support from MDA. The institution of Dr. Rothstein has received research support from F Prime. The institution of Dr. Rothstein has received research support from Target ALS. The institution of Dr. Rothstein has received research support from Chan Zuckerberg Initiative. The institution of Dr. Rothstein has received research support from Dept of Defense. Dr. Rothstein has received intellectual property interests from a discovery or technology relating to health care.
James D. Berry, MD MPH	Dr. Berry has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Biogen. Dr. Berry has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Clene Nanomedicine. Dr. Berry has received personal compensation in the range of $500-$4,999 for serving as a Consultant for MT Pharma Holdings of America. Dr. Berry has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Regeneron. Dr. Berry has received personal compensation in the range of $500-$4,999 for serving as a Consultant for MTPA. Dr. Berry has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Janssen. Dr. Berry has received personal compensation in the range of $0-$499 for serving on a Scientific Advisory or Data Safety Monitoring board for Sanofi. Dr. Berry has stock in ReactNeuro. The institution of Dr. Berry has received research support from Biogen. The institution of Dr. Berry has received research support from MT Pharma of America. The institution of Dr. Berry has received research support from Rapa Therapeutics. The institution of Dr. Berry has received research support from Brainstorm Cell Therapeutics. The institution of Dr. Berry has received research support from Alexion. The institution of Dr. Berry has received research support from nQ Medical. The institution of Dr. Berry has received research support from ALSA. The institution of Dr. Berry has received research support from MDA. The institution of Dr. Berry has received research support from Amylyx. The institution of Dr. Berry has received research support from Transposon. Dr. Berry has a non-compensated relationship as a Scientific Advisor with Everything ALS that is relevant to AAN interests or activities.
Jonathan S. Katz, MD	Dr. Katz has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Alexion. Dr. Katz has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Mitsubishi Tanabe. Dr. Katz has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Calico. Dr. Katz has received personal compensation in the range of $500-$4,999 for serving as a Consultant for CSL Behring. Dr. Katz has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Argenyx. Dr. Katz has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Amylyx. Dr. Katz has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Denali. Dr. Katz has received personal compensation in the range of $10,000-$49,999 for serving as a Consultant for Griffols. Dr. Katz has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Biogen. Dr. Katz has received personal compensation in the range of $500-$4,999 for serving on a Speakers Bureau for Alexion.
Yunxia Wang, MD, FAAN	Dr. Wang has nothing to disclose.
Brett Morrison, MD, PhD	No disclosure on file
Merit E. Cudkowicz, MD, MSC, FAAN	Dr. Cudkowicz has received personal compensation in the range of $5,000-$9,999 for serving as a Consultant for biogen. Dr. Cudkowicz has received personal compensation in the range of $500-$4,999 for serving as a Consultant for cytokinetics. Dr. Cudkowicz has received personal compensation in the range of $500-$4,999 for serving as a Consultant for immunitypharm. Dr. Cudkowicz has received personal compensation in the range of $500-$4,999 for serving as a Consultant for denali. The institution of Dr. Cudkowicz has received personal compensation in the range of $500-$4,999 for serving as a Consultant for wave. Dr. Cudkowicz has received personal compensation in the range of $500-$4,999 for serving as a Consultant for transposon. Dr. Cudkowicz has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Quralis. Dr. Cudkowicz has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Regeneron. Dr. Cudkowicz has received personal compensation in the range of $10,000-$49,999 for serving as a Consultant for Neurosense. Dr. Cudkowicz has received personal compensation in the range of $500-$4,999 for serving as a Consultant for vectorY. Dr. Cudkowicz has received personal compensation in the range of $0-$499 for serving as a Consultant for Arrowhead. Dr. Cudkowicz has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Servier. Dr. Cudkowicz has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Eledon. Dr. Cudkowicz has received personal compensation in the range of $500-$4,999 for serving as a Consultant for inflectis. Dr. Cudkowicz has received personal compensation in the range of $500-$4,999 for serving as a Consultant for roche. Dr. Cudkowicz has received personal compensation in the range of $5,000-$9,999 for serving as a Consultant for novartis. Dr. Cudkowicz has received personal compensation in the range of $0-$499 for serving as a Consultant for ono. Dr. Cudkowicz has received personal compensation in the range of $500-$4,999 for serving as a Consultant for otsuka. Dr. Cudkowicz has received personal compensation in the range of $500-$4,999 for serving as a Consultant for coya. Dr. Cudkowicz has received personal compensation in the range of $10,000-$49,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Locust Walk. Dr. Cudkowicz has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Pasithea. Dr. Cudkowicz has received personal compensation in the range of $50,000-$99,999 for serving as an officer or member of the Board of Directors for Praxis Precision Medicine. Dr. Cudkowicz has received personal compensation in the range of $10,000-$49,999 for serving as an Editor, Associate Editor, or Editorial Advisory Board Member for Annals of Neurology . An immediate family member of Dr. Cudkowicz has stock in Sqz. The institution of Dr. Cudkowicz has received research support from NINDS. The institution of Dr. Cudkowicz has received research support from ALSA . The institution of Dr. Cudkowicz has received research support from ALSFAC. The institution of Dr. Cudkowicz has received research support from UCB ra. The institution of Dr. Cudkowicz has received research support from Biohaven. The institution of Dr. Cudkowicz has received research support from Clene nanomedicine. The institution of Dr. Cudkowicz has received research support from prilenia. The institution of Dr. Cudkowicz has received research support from ALS one. The institution of Dr. Cudkowicz has received research support from Seelos. The institution of Dr. Cudkowicz has received research support from Calico. The institution of Dr. Cudkowicz has received research support from denali. The institution of Dr. Cudkowicz has received research support from ITB. Dr. Cudkowicz has received publishing royalties from a publication relating to health care.
Alexander Sherman	The institution of Mr. Sherman has received research support from The ALS Association. The institution of Mr. Sherman has received research support from NIH. The institution of Mr. Sherman has received research support from FDA. The institution of Mr. Sherman has received research support from Biogen. The institution of Mr. Sherman has received research support from Amylyx Pharmaceuticals. The institution of Mr. Sherman has received research support from Mitsubishi-Tanabe Pharma America. Mr. Sherman has a non-compensated relationship as a Member, Board of Directors with ALD Connect that is relevant to AAN interests or activities.
Jimmy Schiemann	No disclosure on file