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 Showing 1-20 of 42 Articles
Case Report/Case Series 
Sean J. Pittock, MD; Vanda A. Lennon, MD, PhD; Nandini Bakshi, MD; Ling Shen, PhD; Andrew McKeon, MD; Hong Quach, BA; Farren B. S. Briggs, PhD; Allan L. Bernstein, MD; Catherine A. Schaefer, MD; Lisa F. Barcellos, PhD, MPH

Importance  Using an aquaporin-4 (AQP4) M1-isoform–specific enzyme-linked immunosorbent assay (ELISA) and a fixed transfected cell-based assay (CBA), we tested AQP4-IgG in a northern California population representative cohort of 3293 potential cases with multiple sclerosis (MS). Seropositive cases were tested additionally by fluorescence-activated cell sorting, a live transfected ...

Original Investigation 
Ignacio F. Mata, PhD; James B. Leverenz, MD; Daniel Weintraub, MD; John Q. Trojanowski, MD, PhD; Howard I. Hurtig, MD; Vivianna M. Van Deerlin, MD, PhD; Beate Ritz, MD, PhD; Rebecca Rausch, PhD; Shannon L. Rhodes, PhD; Stewart A. Factor, DO; Cathy Wood-Siverio, MS; Joseph F. Quinn, MD; Kathryn A. Chung, MD; Amie L. Peterson, MD; Alberto J. Espay, MD; Fredy J. Revilla, MD; Johnna Devoto, PsyD; Shu-Ching Hu, MD, PhD; Brenna A. Cholerton, PhD; Jia Y. Wan, MS; Thomas J. Montine, MD, PhD; Karen L. Edwards, PhD; Cyrus P. Zabetian, MD, MS
Includes: Supplemental Content

Importance  Cognitive impairment is a common and disabling problem in Parkinson disease (PD) that is not well understood and is difficult to treat. Identification of genetic variants that influence the rate of cognitive decline or pattern of early cognitive deficits in PD might provide a clearer understanding ...

Original Investigation 
Jeffrey A. Cohen, MD; Arun V. Krishnan, PhD; Andrew D. Goodman, MD; James Potts, PhD; Ping Wang, PhD; Eva Havrdova, MD; Chris Polman, MD; Richard A. Rudick, MD
Includes: Supplemental Content

Importance  Walking impairment, a common clinical manifestation of multiple sclerosis (MS), is often measured in clinical practice and clinical trials using the Timed 25-Foot Walk (T25-FW).

Objective  To evaluate the relationship between walking speed measured by the T25-FW and the Physical Component Summary (PCS) score of ...

Viewpoint 
Joseph Jankovic, MD; Todd Sherer, PhD
This Viewpoint highlights aspects of future research aimed at addressing critical questions about Parkinson disease.
Clinical Implications of Basic Neuroscience Research 
Zorbey Turkalp, BSc(Hons); Jason Karamchandani, MD; Sunit Das, MD, PhD

Importance  Over the past 4 years, our understanding of gliomagenesis and the practice of neuro-oncology have been radically changed by the discovery of mutations involving the isocitrate dehydrogenase (IDH) enzymes. IDH mutation has been found to be an inciting event in gliomagenesis and to have a profound ...

Case Report/Case Series 
Sheilagh Sanders, MD; Christopher Bredeson, MD; C. Elizabeth Pringle, MD; Lisa Martin; David Allan, MD; Isabelle Bence-Bruckler, MD; Linda Hamelin, MSc; Harry S. Hopkins; Mitchell Sabloff, MD; Dawn Sheppard, MD; Jason Tay, MD; Lothar Huebsch, MD; Harold L. Atkins, MD

Importance  Stiff person syndrome (SPS) is a rare neurological disease causing significant functional disability for patients and presenting a therapeutic challenge for clinicians. Autologous hematopoietic stem cell transplantation (auto-HSCT) has been used successfully to remit autoimmune-mediated neurological diseases. We report 2 cases of severe SPS treated with ...

Original Investigation  FREE
Michael R. DeLong, BA; Kevin T. Huang, AB; John Gallis, ScM; Yuliya Lokhnygina, PhD; Beth Parente, PA; Patrick Hickey, DO; Dennis A. Turner, MD; Shivanand P. Lad, MD, PhD

Importance  Deep brain stimulation (DBS) is a well-established modality for the treatment of advanced Parkinson disease (PD). Recent studies have found DBS plus best medical therapy to be superior to best medical therapy alone for patients with PD and early motor complications. Although no specific age cutoff ...

Original Investigation 
Sebastian Palmqvist, MD, PhD; Henrik Zetterberg, MD, PhD; Kaj Blennow, MD, PhD; Susanna Vestberg, PhD; Ulf Andreasson, PhD; David J. Brooks, MD, PhD; Rikard Owenius, PhD; Douglas Hägerström, MD; Per Wollmer, MD, PhD; Lennart Minthon, MD, PhD; Oskar Hansson, MD, PhD
Includes: Supplemental Content

Importance  Before adding cerebrospinal fluid (CSF) biomarkers to the diagnostic workup of Alzheimer disease, it needs to be determined whether CSF biomarkers analyzed in routine clinical practice can reliably predict cortical β-amyloid (Aβ) deposition.

Objectives  To study whether CSF biomarkers, analyzed consecutively in routine clinical practice ...

Case Report/Case Series 
Georges Naasan, MD; Sarosh R. Irani, MRCP, DPhil; Brianne M. Bettcher, PhD; Michael D. Geschwind, MD, PhD; Jeffrey M. Gelfand, MD, MAS

Importance  Voltage-gated potassium channel complex antibody (VGKCc-Ab) encephalitis is an immunotherapy-responsive syndrome usually associated with causative antibodies that target the leucine-rich, glioma inactivated 1 (LGI1) protein. Although it is expressed throughout the brain, LGI1 is not known to be expressed in cardiac tissue. We describe a novel ...

Editorial 
Christopher M. Gomez, MD, PhD; Soma Das, PhD
Clinical exome sequencing has arrived and likely is here to stay for the foreseeable future as a key component of routine diagnostic evaluations. When applied to a condition as genetically heterogeneous as the ataxias, it is likely to prove fruitful to yield a molecular diagnosis. The article by Fogel et ...
Original Investigation 
Olga Marshall, MS; Hanzhang Lu, PhD; Jean-Christophe Brisset, PhD; Feng Xu, PhD; Peiying Liu, PhD; Joseph Herbert, MD; Robert I. Grossman, MD; Yulin Ge, MD

Importance  Cerebrovascular reactivity (CVR) is an inherent indicator of the dilatory capacity of cerebral arterioles for a vasomotor stimulus for maintaining a spontaneous and instant increase of cerebral blood flow (CBF) in response to neural activation. The integrity of this mechanism is essential to preserving healthy neurovascular ...

Original Investigation 
Brent L. Fogel, MD, PhD; Hane Lee, PhD; Joshua L. Deignan, PhD; Samuel P. Strom, PhD; Sibel Kantarci, PhD; Xizhe Wang, BS; Fabiola Quintero-Rivera, MD; Eric Vilain, MD, PhD; Wayne W. Grody, MD, PhD; Susan Perlman, MD; Daniel H. Geschwind, MD, PhD; Stanley F. Nelson, MD
Includes: Supplemental Content

Importance  Cerebellar ataxias are a diverse collection of neurologic disorders with causes ranging from common acquired etiologies to rare genetic conditions. Numerous genetic disorders have been associated with chronic progressive ataxia and this consequently presents a diagnostic challenge for the clinician regarding how to approach and prioritize ...

Editorial 
Courtney Lane-Donovan, SB; Joachim Herz, MD
More than 20 years ago, a polymorphism in the apolipoprotein E (apoE) gene was identified as the primary risk factor for late-onset Alzheimer disease (AD).1 Individuals carrying the ε4 isoform of apoE (apoE4) are at significantly greater risk for AD compared with apoE3 carriers, whereas the apoE2 allele is associated ...
Original Investigation 
Juan M. Pascual, MD, PhD; Peiying Liu, PhD; Deng Mao, BS; Dorothy I. Kelly, MA; Ana Hernandez, MS; Min Sheng, PhD; Levi B. Good, PhD; Qian Ma, MD, PhD; Isaac Marin-Valencia, MD, MS; Xuchen Zhang, MD; Jason Y. Park, MD, PhD; Linda S. Hynan, PhD; Peter Stavinoha, PhD; Charles R. Roe, MD; Hanzhang Lu, PhD
Includes: Supplemental Content

Importance  Disorders of brain metabolism are multiform in their mechanisms and manifestations, many of which remain insufficiently understood and are thus similarly treated. Glucose transporter type I deficiency (G1D) is commonly associated with seizures and with electrographic spike-waves. The G1D syndrome has long been attributed to energy ...

Original Investigation 
Dominic Holland, PhD; Linda Chang, MD; Thomas M. Ernst, PhD; Megan Curran; Steven D. Buchthal, PhD; Daniel Alicata, MD; Jon Skranes, MD; Heather Johansen; Antonette Hernandez; Robyn Yamakawa; Joshua M. Kuperman, PhD; Anders M. Dale, PhD
Includes: Supplemental Content

Importance  The very early postnatal period witnesses extraordinary rates of growth, but structural brain development in this period has largely not been explored longitudinally. Such assessment may be key in detecting and treating the earliest signs of neurodevelopmental disorders.

Objective  To assess structural growth trajectories and ...

Original Investigation  FREE
Angel C. Y. Mak, PhD; Clive R. Pullinger, PhD; Ling Fung Tang, PhD; Jinny S. Wong, BS; Rahul C. Deo, MD, PhD; Jean-Marc Schwarz, PhD; Alejandro Gugliucci, MD, PhD; Irina Movsesyan, BS; Brian Y. Ishida, PhD; Catherine Chu, BS; Annie Poon, BS; Phillip Kim, MD; Eveline O. Stock, MD; Ernst J. Schaefer, MD; Bela F. Asztalos, PhD; Joseph M. Castellano, PhD; Tony Wyss-Coray, PhD; Jacque L. Duncan, MD; Bruce L. Miller, MD; John P. Kane, MD, PhD; Pui-Yan Kwok, MD, PhD; Mary J. Malloy, MD
Includes: Supplemental Content

Importance  The identification of a patient with a rare form of severe dysbetalipoproteinemia allowed the study of the consequences of total absence of apolipoprotein E (apoE).

Objectives  To discover the molecular basis of this rare disorder and to determine the effects of complete absence of apoE ...

Review 
David S. Warner, MD; Michael L. James, MD; Daniel T. Laskowitz, MD; Eelco F. Wijdicks, MD, PhD
Includes: Supplemental Content

Importance  Research to improve outcomes from acute central nervous system (CNS) injury has progressed little, although limited examples (eg, induced hypothermia for out-of-hospital ventricular fibrillation cardiac arrest and birth asphyxia and tissue plasminogen activator for ischemic stroke) have proved that it is possible to favorably alter outcome....

Case Report/Case Series 
Mathilde Renaud, MD; Mathieu Anheim, MD, PhD; Erik-Jan Kamsteeg, PhD; Martial Mallaret, MD; Fanny Mochel, MD, PhD; Sascha Vermeer, MD, PhD; Nathalie Drouot, MSc; Jean Pouget, MD; Claire Redin, PhD; Emmanuelle Salort-Campana, MD; Hubertus P. H. Kremer, MD, PhD; Corien C. Verschuuren-Bemelmans, MD; Jean Muller, PhD; Hans Scheffer, PhD; Alexandra Durr, MD, PhD; Christine Tranchant, MD; Michel Koenig, MD, PhD

Importance  ANO10 mutations have been reported to cause a novel form of autosomal recessive cerebellar ataxia (ARCA). Our objective was to report 9 ataxic patients carrying 8 novel ANO10 mutations to improve the delineation of this form of ARCA and provide genotype-phenotype correlation.

Observations  The ANO10...

Editorial 
Philip B. Gorelick, MD, MPH
Hypertension affects more than two-thirds of US adults 60 years or older,1 and control is considered by some to be the “crown jewel” of stroke prevention. Despite mounting epidemiologic and mechanistic evidence linking raised blood pressure (BP) to cognitive decline or dementia, uncertainty remains about the benefit of lowering BP ...
Original Investigation 
Rebecca F. Gottesman, MD, PhD; Andrea L. C. Schneider, MD, PhD; Marilyn Albert, PhD; Alvaro Alonso, MD, PhD; Karen Bandeen-Roche, PhD; Laura Coker, PhD; Josef Coresh, MD, PhD; David Knopman, MD; Melinda C. Power, ScD; Andreea Rawlings, MS; A. Richey Sharrett, MD, DrPH; Lisa M. Wruck, PhD; Thomas H. Mosley, PhD
Includes: Supplemental Content

Importance  Hypertension is a treatable potential cause of cognitive decline and dementia, but its greatest influence on cognition may occur in middle age.

Objective  To evaluate the association between midlife (48-67 years of age) hypertension and the 20-year change in cognitive performance.

Design, Setting, and Participants...

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