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Basic View | Expanded View
 Showing 1-20 of 31 Articles
Peter B. Kang, MD; Robert C. Griggs, MD

Muscular dystrophy (MD) was originally defined as a single disease in the 19th century. In the 20th century, MD was delineated into the following 6 subcategories: Duchenne MD (DMD)/Becker MD, limb-girdle MD, distal myopathies, congenital MD, facioscapulohumeral MD, and myotonic dystrophy. Since the cloning of dystrophin in 1986, ...

Sarosh R. Irani, MD, DPhil; Angela Vincent, FRCPath

The number of different antibody-associated disorders of the central nervous system and the clinical phenotypes encountered are increasing steadily. Because these patients have potentially reversible diseases, it is incumbent on the neurologist to treat them promptly and effectively. However, although some diseases respond fairly well and quickly to ...

Original Investigation 
Jeremy F. Strain, BS; Kyle B. Womack, MD; Nyaz Didehbani, PhD; Jeffrey S. Spence, PhD; Heather Conover, BS; John Hart Jr, MD; Michael A. Kraut, MD; C. Munro Cullum, PhD

Importance  To our knowledge, this is the first study to show an association between concussion, cognition, and anatomical structural brain changes across the age spectrum in former National Football League athletes.

Objective  To assess the relationship of hippocampal volume, memory performance, and the influence of concussion ...

Original Investigation  FREE
Marius Ringelstein, MD; Ilya Ayzenberg, MD; Jens Harmel, MD; Ann-Sophie Lauenstein, MD; Eckart Lensch, MD; Florian Stögbauer, MD; Kerstin Hellwig, MD; Gisa Ellrichmann, MD; Mark Stettner, MD; Andrew Chan, MD; Hans-Peter Hartung, MD; Bernd Kieseier, MD; Ralf Gold, MD; Orhan Aktas, MD; Ingo Kleiter, MD

Importance  Neuromyelitis optica (NMO) is characterized by disabling relapses of optic neuritis and myelitis and the presence of aquaporin 4 antibodies (AQP4-abs). Interleukin 6, which is significantly elevated in serum and cerebrospinal fluid of patients with NMO, induces AQP4-ab production by plasmablasts and represents a novel therapeutic ...

Editorial: Targeting the Interleukin 6 Receptor to Treat Neuromyelitis Optica; Sarosh R. Irani, MD, DPhil; Angela Vincent, FRCPath
Original Investigation 
Eun Joo Chung, MD; Ganesh M. Babulal, OTD; Sarah E. Monsell, MS; Nigel J. Cairns, PhD; Catherine M. Roe, PhD; John C. Morris, MD
Includes: Supplemental Content

Importance  Lewy bodies are a frequent coexisting pathology in late-onset Alzheimer disease (AD). Previous studies have examined the contribution of Lewy bodies to the clinical phenotype of late-onset AD with variable findings.

Objective  To determine whether the presence of Lewy body pathology influences the clinical phenotype ...

Stephen A. Goutman, MD; Eva L. Feldman, MD, PhD

This Viewpoint discusses amyotrophic lateral sclerosis as a syndrome rather than a single disease that requires varied diagnostic and therapeutic approaches.

Original Investigation 
Sujata P. Thawani, MD, MPH; Thomas H. Brannagan III, MD; Benjamin Lebwohl, MD, MS; Peter H. R. Green, MD; Jonas F. Ludvigsson, MD, PhD
Includes: Supplemental Content

Importance  Earlier research on celiac disease (CD) and neuropathy has been hampered by the use of inpatient data, low study power, and lack of neuropathic characteristics.

Objective  To examine the relative risk and absolute risk of developing neuropathy in a nationwide population-based sample of patients with ...

Original Investigation  FREE
Paul L. Auer, PhD; Mike Nalls, PhD; James F. Meschia, MD; Bradford B. Worrall, MD; W. T. Longstreth Jr, MD; Sudha Seshadri, MD; Charles Kooperberg, PhD; Kathleen M. Burger, DO; Christopher S. Carlson, PhD; Cara L. Carty, PhD; Wei-Min Chen, PhD; L. Adrienne Cupples, PhD; Anita L. DeStefano, PhD; Myriam Fornage, PhD; John Hardy, PhD; Li Hsu, PhD; Rebecca D. Jackson, MD; Gail P. Jarvik, MD, PhD; Daniel S. Kim, BS; Kamakshi Lakshminarayan, MD; Leslie A. Lange, PhD; Ani Manichaikul, PhD; Aaron R. Quinlan, PhD; Andrew B. Singleton, PhD; Timothy A. Thornton, PhD; Deborah A. Nickerson, PhD; Ulrike Peters, PhD; Stephen S. Rich, PhD; for the National Heart, Lung, and Blood Institute Exome Sequencing Project
Includes: Supplemental Content

Importance  Stroke is the second leading cause of death and the third leading cause of years of life lost. Genetic factors contribute to stroke prevalence, and candidate gene and genome-wide association studies (GWAS) have identified variants associated with ischemic stroke risk. These variants often have small effects ...

Clinical Implications of Basic Neuroscience Research 
Esther Krook-Magnuson, PhD; Jennifer N. Gelinas, MD, PhD; Ivan Soltesz, PhD; György Buzsáki, MD, PhD

Brain-implanted devices are no longer a futuristic idea. Traditionally, therapies for most neurological disorders are adjusted based on changes in clinical symptoms and diagnostic measures observed over time. These therapies are commonly pharmacological or surgical, requiring continuous or irreversible treatment regimens that cannot respond rapidly to fluctuations of ...

Images in Neurology 
Jone Bocos-Portillo, MD; Javier Ruiz Ojeda, MD; Marian Gomez-Beldarrain, MD; Raquel Vazquez-Picon, MD; Juan Carlos Garcia-Monco, MD

An 81-year-old patient was seen with sudden onset of ophthalmoplegia and unsteadiness. His medical record included hypertension, type 2 diabetes mellitus, and hypercholesterolemia. The neurological examination disclosed left internuclear ophthalmoplegia and horizontal left-sided gaze palsy, accompanied by left-sided peripheral facial palsy (Video). The physical examination findings ...

Gregory J. Esper, MD, MBA; Daniel Hartung, PharmD, MPH; Orly Avitzur, MD, MBA

This Viewpoint discusses the costs associated with care for chronic neurological illnesses for patients with health insurance exchange plans, established through the Patient Protection and Affordable Care Act.

Douglas A. Dulli, MD, MS

There have been tremendous strides in standardization of the care for acute ischemic stroke since widespread use of thrombolytic therapy began almost 20 years ago. Efficacy is still limited by delayed presentation to the emergency department following stroke symptom onset, although this has also improved in that period ...

Original Investigation  FREE
Alexandra P. Saltman, MD; Frank L. Silver, MD; Jiming Fang, PhD; Melissa Stamplecoski, BSc; Moira K. Kapral, MD, MSc

Importance  A sizeable minority of strokes occur in hospitalized patients. However, little is known about the presentation, care, and outcomes of stroke in this subgroup of patients.

Objective  To examine stroke care delivery and outcomes for patients with in-hospital vs community-onset stroke.

Design, Setting, and Participants...

Editorial: In-Hospital Stroke; Douglas A. Dulli, MD, MS
Original Investigation 
Kristen Zukosky, PhD; Katherine Meilleur, PhD; Bryan J. Traynor, MD, PhD; Jahannaz Dastgir, DO; Livija Medne, MS, CGC; Marcella Devoto, PhD; James Collins, MD; Jachinta Rooney, PhD; Yaqun Zou, MD; Michele L. Yang, MD; J. Raphael Gibbs, BS; Markus Meier, PhD; Joerg Stetefeld, PhD; Richard S. Finkel, MD; Joachim Schessl, MD; Lauren Elman, MD; Kevin Felice, DO; Toby A. Ferguson, MD, PhD; Ozge Ceyhan-Birsoy, PhD; Alan H. Beggs, PhD; Gihan Tennekoon, MD; Janel O. Johnson, PhD; Carsten G. Bönnemann, MD
Includes: Supplemental Content

Importance  New genomic strategies can now be applied to identify a diagnosis in patients and families with previously undiagnosed rare genetic conditions. The large family evaluated in the present study was described in 1966 and now expands the phenotype of a known neuromuscular gene.

Objective  To ...

Amy C. Jongeling, MD, PhD; Carl W. Bazil, MD, PhD; Jan Claassen, MD

There are not many epidemiological studies regarding status epilepticus in the United States, especially in recent years. Much of the available data on status epilepticus are 10 to 15 years old and derived from small population–based observational studies, before the availability of electronic coding from a large number ...

Original Investigation 
John P. Betjemann, MD; S. Andrew Josephson, MD; Daniel H. Lowenstein, MD; James F. Burke, MD

Importance  Status epilepticus is a common neurologic emergency with significant associated morbidity, mortality, and health care costs, yet limited data exist detailing trends in status epilepticus–related hospitalizations and mortality.

Objective  To examine trends in status epilepticus–related hospitalizations and mortality.

Design, Setting, and Participants  We performed ...

Editorial: Status Epilepticus; Amy C. Jongeling, MD, PhD; Carl W. Bazil, MD, PhD; Jan Claassen, MD
Images in Neurology 
Nathália Stela Visoná de Figueiredo, MD; Débora Bartzen Moraes Angst, MD; Lucas Silvestre Mendes, MD; Michel Ferreira Machado, MD; Maria Sheila Guimarães Rocha, MD, MSc; Sônia Maria Dozzi Brucki, MD, PhD

A woman in her 50s was evaluated in an outpatient memory clinic and was found to have had progressive cognitive impairment for at least 1 year, based on a Mini-Mental State Examination score of 20 out of 30 possible points, with a poor verbal fluency score of 4, ...

Daniel Gold, DO; David E. Newman-Toker, MD, PhD; Joshua M. Sharfstein, MD

This Viewpoint reports on the effect of the Affordable Care Act on US health care, specifically with regard to neurology.

Steven Vernino, MD, PhD

Myasthenia gravis (MG) is the prototypic autoimmune neurological disorder. Weakness and muscle fatigue in MG result from an autoimmune attack on the neuromuscular junction, which causes a failure of neuromuscular transmission.1 The autoimmune nature of the disease was initially proposed in 1960, and in the 1970s, serum ...

Original Investigation 
Rodrigo P. Almeida, BS; Stephanie A. Schultz, BS; Benjamin P. Austin, PhD; Elizabeth A. Boots, BS; N. Maritza Dowling, PhD; Carey E. Gleason, PhD; Barbara B. Bendlin, PhD; Mark A. Sager, MD; Bruce P. Hermann, PhD; Henrik Zetterberg, MD, PhD; Cynthia M. Carlsson, MD, MS; Sterling C. Johnson, PhD; Sanjay Asthana, MD; Ozioma C. Okonkwo, PhD

Importance  Although advancing age is the strongest risk factor for the development of symptomatic Alzheimer disease (AD), recent studies have shown that there are individual differences in susceptibility to age-related alterations in the biomarkers of AD pathophysiology.

Objective  To investigate whether cognitive reserve (CR) modifies the ...

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