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Basic View | Expanded View
 Showing 1-20 of 37 Articles
Kenneth S. Kosik, MA, MD
This Viewpoint evaluates the ways in which individualized evaluation in patients with Alzheimer disease may lead to more effective treatments.
The American Neurological Association (ANA) will host the satellite symposium “Circuits and Circuit Disorders: Approaches to Neuromodulation” on Saturday evening, September 26, 2015, in Chicago, Illinois, the evening before the start of the regular scientific program. The symposium is cosponsored by the Annals of Neurology and JAMA Neurology and will ...
Original Investigation  FREE
Timothy B. Meier, PhD; Patrick S. F. Bellgowan, PhD; Rashmi Singh, PhD; Rayus Kuplicki, PhD; David W. Polanski, MS, ATC, LAT; Andrew R. Mayer, PhD
Includes: Supplemental Content

Importance  Animal models suggest that reduced cerebral blood flow (CBF) is one of the most enduring physiological deficits following concussion. Despite this, longitudinal studies documenting serial changes in regional CBF following human concussion have yet to be performed.

Objective  To longitudinally assess the recovery of CBF ...

E. Ray Dorsey, MD, MBA; Charles Venuto, PharmD; Vinayak Venkataraman, BSE; Denzil A. Harris, BA; Karl Kieburtz, MD, MPH
Includes: Supplemental Content

Importance  New technologies are rapidly reshaping health care. However, their effect on drug development to date generally has been limited.

Objectives  To evaluate disease modeling and simulation, alternative study design, novel objective measures, virtual research visits, and enhanced participant engagement and to examine their potential effects ...

Lars Bertram, MD; Christine Klein, MD
Alzheimer disease (AD) is a heterogeneous disorder with a substantial genetic component. A small number of cases (ie, early-onset familial AD) are caused by exceedingly rare but pathogenic and highly penetrant mutations, while most cases (ie, late-onset AD) are caused by an intricate—and still only partially understood—interplay of genetic and ...
Original Investigation 
Rebecca E. Amariglio, PhD; Michael C. Donohue, PhD; Gad A. Marshall, MD; Dorene M. Rentz, PsyD; David P. Salmon, PhD; Steven H. Ferris, PhD; Stella Karantzoulis, PhD; Paul S. Aisen, MD; Reisa A. Sperling, MD; for the Alzheimer’s Disease Cooperative Study

Importance  Several large-scale Alzheimer disease (AD) secondary prevention trials have begun to target individuals at the preclinical stage. The success of these trials depends on validated outcome measures that are sensitive to early clinical progression in individuals who are initially asymptomatic.

Objective  To investigate the utility ...

Original Investigation 
Jason A. Chen, BSE; Qing Wang, PhD; Jeremy Davis-Turak, BA; Yun Li, PhD; Anna M. Karydas, BA; Sandy C. Hsu, MS; Renee L. Sears, BA; Doxa Chatzopoulou, MS; Alden Y. Huang, BS; Kevin J. Wojta, BS; Eric Klein, MSc; Jason Lee, BS; Duane L. Beekly, BS; Adam Boxer, MD, PhD; Kelley M. Faber, MS; Claudia M. Haase, PhD; Josh Miller, PhD; Wayne W. Poon, PhD; Ami Rosen, MS; Howard Rosen, MD; Anna Sapozhnikova, BA; Jill Shapira, RN, PhD; Arousiak Varpetian, MD; Tatiana M. Foroud, PhD; Robert W. Levenson, PhD; Allan I. Levey, MD, PhD; Walter A. Kukull, PhD; Mario F. Mendez, MD, PhD; John Ringman, MD; Helena Chui, MD; Carl Cotman, PhD; Charles DeCarli, MD; Bruce L. Miller, MD; Daniel H. Geschwind, MD, PhD; Giovanni Coppola, MD
Includes: Supplemental Content

Importance  Previous studies have indicated a heritable component of the etiology of neurodegenerative diseases such as Alzheimer disease (AD), frontotemporal dementia (FTD), and progressive supranuclear palsy (PSP). However, few have examined the contribution of low-frequency coding variants on a genome-wide level.

Objective  To identify low-frequency coding ...

Editorial: The Exome Array in Alzheimer Disease; Lars Bertram, MD; Christine Klein, MD
J. David Spence, MD, FRCPC
This viewpoint discusses the measurement of carotid plaque burden in determining cardiovascular risk factors.
Original Investigation 
Ying-hui Chou, ScD; Patrick T. Hickey, DO; Mark Sundman, BS; Allen W. Song, PhD; Nan-kuei Chen, PhD
Includes: Supplemental Content

Importance  Repetitive transcranial magnetic stimulation (rTMS) is a noninvasive neuromodulation technique that has been closely examined as a possible treatment for Parkinson disease (PD). However, results evaluating the effectiveness of rTMS in PD are mixed, mostly owing to low statistical power or variety in individual rTMS protocols....

Vera Tadic, MD; Ana Westenberger, PhD; Aloysius Domingo, MD; Daniel Alvarez-Fischer, MD; Christine Klein, MD; Meike Kasten, MD
Includes: Supplemental Content

Importance  In the past 2 years, 3 genes (SLC20A2, PDGFRB, and PDGFB) were identified as causative of primary familial brain calcification (PFBC), enabling genotype-specific phenotyping.

Objectives  To provide a systematic literature review on the neuroimaging and clinical phenotype of genetically confirmed PFBC and summarize ...

Clinical Implications of Basic Neuroscience Research 
John F. Wesseling, PhD; Isabel Pérez-Otaño, PhD

Huntington disease (HD) is an inherited neurodegenerative disorder with no cure or effective palliative treatment. An ideal therapy would arrest pathogenesis at early stages before neuronal damage occurs. However, although the genetic mutation that causes HD is known, the molecular chain of events that leads from the mutation ...

Olaf Stüve, MD, PhD; Diego Centonze, MD, PhD
In the complex scenario of current multiple sclerosis (MS) treatment options, it is becoming imperative for clinicians to have the instruments to make prompt treatment decisions for patients who have a suboptimal response, in order to avoid that the MS progresses to such an extent that any therapy adjustment would ...
Original Investigation 
Anna He, MBBS; Tim Spelman, MBBS, MSc; Vilija Jokubaitis, PhD; Eva Havrdova, MD, PhD; Dana Horakova, MD, PhD; Maria Trojano, MD; Alessandra Lugaresi, MD; Guillermo Izquierdo, MD, PhD; Pierre Grammond, MD; Pierre Duquette, MD; Marc Girard, MD; Eugenio Pucci, MD, PhD; Gerardo Iuliano, MD; Raed Alroughani, MD; Celia Oreja-Guevara, MD; Ricardo Fernandez-Bolaños, MD; Francois Grand’Maison, MD; Patrizia Sola, MD; Daniele Spitaleri, MD; Franco Granella, MD; Murat Terzi, MD; Jeannette Lechner-Scott, MD; Vincent Van Pesch, MD, PhD; Raymond Hupperts, MD, PhD; José Luis Sánchez-Menoyo, MD; Suzanne Hodgkinson, MBBS, PhD; Csilla Rozsa, MD; Freek Verheul, MD; Helmut Butzkueven, MBBS, PhD; Tomas Kalincik, MD, PhD; for the MSBase Study Group
Includes: Supplemental Content

Importance  After multiple sclerosis (MS) relapse while a patient is receiving an injectable disease-modifying drug, many physicians advocate therapy switch, but the relative effectiveness of different switch decisions is often uncertain.

Objective  To compare the effect of the oral immunomodulator fingolimod with that of all injectable ...

Editorial: Treatment Decisions for Patients With Active MS; Olaf Stüve, MD, PhD; Diego Centonze, MD, PhD
Original Investigation 
H. Orhan Akman, PhD; Or Kakhlon, PhD; Jorida Coku, MS; Lorenzo Peverelli, MD; Hanna Rosenmann, PhD; Lea Rozenstein-Tsalkovich, BSc; Julie Turnbull, PhD; Vardiella Meiner, MD; Liat Chama, BSc; Israela Lerer, PhD; Shoshi Shpitzen, MS; Eran Leitersdorf, MD; Carmen Paradas, MD; Mary Wallace, LD, CCRC; Raphael Schiffman, MD; Salvatore DiMauro, MD; Alexander Lossos, MD; Berge A. Minassian, MD

Importance  We describe a deep intronic mutation in adult polyglucosan body disease. Similar mechanisms can also explain manifesting heterozygous cases in other inborn metabolic diseases.

Objective  To explain the genetic change consistently associated with manifesting heterozygous patients with adult polyglucosan body disease.

Design, Setting, and Participants...

Beau B. Bruce, MD, PhD; Valérie Biousse, MD; Nancy J. Newman, MD

Importance  The ocular fundus examination is infrequently and poorly performed in clinical settings, placing patients at risk for missed and delayed diagnosis of vision- and life-threatening neurologic disease.

Objectives  To review the importance of ocular fundus examination, the limitations of direct ophthalmoscopy, and the relative merits ...

Carmen Kut, BS; Stuart A. Grossman, MD; Jaishri Blakeley, MD
This Viewpoint reports that the blood-brain barrier is thought to restrict access of therapeutic agents that may otherwise be effective against central nervous system diseases. However, there is controversy in the neurotherapeutics community about the degree to which this hypothesis is true.
Robert P. Lisak, MD; Lisa Barcellos, PhD, MPH
Acquired myasthenia gravis (MG) is the prototypic neurologic autoimmune disease. The disease is unlike congenital myasthenic syndromes, where mutations in different genes encoding molecules important in the neuromuscular junction cause major changes in function and are inherited in classic mendelian patterns. Such mutations are not readily seen in patients with ...
Original Investigation 
Alan E. Renton, PhD; Hannah A. Pliner, BS; Carlo Provenzano, MD, PhD; Amelia Evoli, MD; Roberta Ricciardi, MD; Michael A. Nalls, PhD; Giuseppe Marangi, MD; Yevgeniya Abramzon; Sampath Arepalli, MS; Sean Chong, BS; Dena G. Hernandez, MS; Janel O. Johnson, PhD; Emanuela Bartoccioni, PhD; Flavia Scuderi; Michelangelo Maestri, MD; J. Raphael Gibbs, MS; Edoardo Errichiello; Adriano Chiò, MD; Gabriella Restagno, MD; Mario Sabatelli, MD; Mark Macek, MS; Sonja W. Scholz, MD, PhD; Andrea Corse, MD; Vinay Chaudhry, MD; Michael Benatar, MD, PhD; Richard J. Barohn, MD; April McVey, MD; Mamatha Pasnoor, MD; Mazen M. Dimachkie, MD; Julie Rowin, MD; John Kissel, MD; Miriam Freimer, MD; Henry J. Kaminski, MD; Donald B. Sanders, MD; Bernadette Lipscomb, RN; Janice M. Massey, MD; Manisha Chopra, MD; James F. Howard Jr, MD; Wilma J. Koopman, RN; Michael W. Nicolle, MD; Robert M. Pascuzzi, MD; Alan Pestronk, MD; Charlie Wulf; Julaine Florence, PhD; Derrick Blackmore, BSc; Aimee Soloway, RN; Zaeem Siddiqi, MD; Srikanth Muppidi, MD; Gil Wolfe, MD; David Richman, MD; Michelle M. Mezei, MD; Theresa Jiwa; Joel Oger, MD; Daniel B. Drachman, MD; Bryan J. Traynor, MD, PhD
Includes: Supplemental Content

Importance  Myasthenia gravis is a chronic, autoimmune, neuromuscular disease characterized by fluctuating weakness of voluntary muscle groups. Although genetic factors are known to play a role in this neuroimmunological condition, the genetic etiology underlying myasthenia gravis is not well understood.

Objective  To identify genetic variants that ...

Editorial: New Insights Into Myasthenia Gravis; Robert P. Lisak, MD; Lisa Barcellos, PhD, MPH
Original Investigation  FREE
Jose G. Romano, MD; Eric E. Smith, MD, MPH; Li Liang, PhD; Hannah Gardener, ScD; Sara Camp, RN, MSN; Laura Shuey, RN, MSN; Alison Cook, BS; Iszet Campo-Bustillo, MD, MPH; Pooja Khatri, MD; Deepak L. Bhatt, MD, MPH; Gregg C. Fonarow, MD; Ralph L. Sacco, MD, MS; Lee H. Schwamm, MD

Importance  Mild strokes have been poorly represented in thrombolytic trials and only a few series have reported outcomes after treatment with intravenous (IV) recombinant tissue plasminogen activator (rtPA) after mild stroke.

Objective  To report treatment complications and short-term outcomes in patients with mild stroke who have ...

More than a decade ago, Klunk and colleagues1 published the first study applying the positron emission tomography (PET) ligand carbon 11–labeled Pittsburgh Compound B to image amyloid-β (Aβ) plaques in patients with Alzheimer disease (AD). In subsequent years, amyloid PET has had a transformative impact on AD research, leading to ...

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