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 Showing 1-20 of 32 Articles
Editorial 
Susan M. Resnick, PhD
As clinical trials move to earlier stages of disease and focus on cognitively normal (CN) individuals with positive biomarkers of Alzheimer disease (AD) (eg, β-amyloid [Aβ]), it is critical to determine the relationship between these biomarkers and cognitive change. It is especially important to determine whether this cognitive change varies ...
Images in Neurology 
Marcello Moccia, MD; Roberto Allocca, MD; Roberto Erro, MD; Paolo Barone, MD, PhD; Carmine Vitale, MD, PhD
An 84-year-old man with an acute and progressive disorder of consciousness presented with ping-pong gaze1 (Video and Figure, A-C) and Cheyne-Stokes breathing, suggestive of metabolic or toxic cause. However, a midrange pupil not responsive to light indicated a lesion involving the brainstem. Metabolic or toxic causes were excluded by blood ...
Original Investigation 
Elizabeth C. Mormino, PhD; Rebecca A. Betensky, PhD; Trey Hedden, PhD; Aaron P. Schultz, PhD; Rebecca E. Amariglio, PhD; Dorene M. Rentz, PsyD; Keith A. Johnson, MD; Reisa A. Sperling, MD
Includes: Supplemental Content

Importance  Assessing the ability of Alzheimer disease neuroimaging markers to predict short-term cognitive decline among clinically normal (CN) individuals is critical for upcoming secondary prevention trials using cognitive outcomes.

Objective  To determine whether neuroimaging markers of β-amyloid (Aβ) and neurodegeneration (ND) are independently or synergistically associated ...

Case Report/Case Series 
Jithin S. George, MBBS, MRCP; Maria Isabel Leite, MD, DPhil; Joanna L. Kitley, BMBS, MRCP; Nicola Jones, MA (Hons), MBChB, FRCP(UK), FRCPath, PhD; Nicholas Cortes, MBChB, MSc, MRCP, FRCPath; Matthew Donati, MBBS, PhD, FRCPath; Bethan Non Matthews, MBBCh, FRCOphth; Daniel Calladine, BMBS, FRCOphth; Charles Hillier, MBBS, MD, MRCP; Imran H. Yusuf, MBBCh, MRes, MRCP; Robert Munneke, MBBS; Chetan K. Patel, FRCOphth; Jacqueline A. Palace, DM, FRCP; John S. Elston, MD, FRCOphth
Includes: Supplemental Content

Importance  Patients with neuromyelitis optica who have aquaporin-4 antibodies are being identified and receiving immunosuppressant treatment earlier and more aggressively as a result of increasing awareness of the importance of preventing relapses responsible for the high morbidity and mortality associated with the disease. To our knowledge, opportunistic ...

Editorial 
Bruce Cree, MD, PhD, MAS
Should clinical trials of disease-modifying therapies be conducted for neuromyelitis optica (NMO)? If so, how should these trials be designed and which therapy tested? Because of its relative scarcity as well as the clinical overlap with multiple sclerosis (MS), randomized clinical trials of NMO treatments have not been undertaken. Hence, ...
Original Investigation 
Adam C. Naj, PhD; Gyungah Jun, PhD; Christiane Reitz, MD, PhD; Brian W. Kunkle, PhD; William Perry, MPH; Yo Son Park, BS; Gary W. Beecham, PhD; Ruchita A. Rajbhandary, MPH; Kara L. Hamilton-Nelson, MPH; Li-San Wang, PhD; John S. K. Kauwe, PhD; Matthew J. Huentelman, PhD; Amanda J. Myers, PhD; Thomas D. Bird, MD; Bradley F. Boeve, MD; Clinton T. Baldwin, PhD; Gail P. Jarvik, MD, PhD; Paul K. Crane, MD, MPH; Ekaterina Rogaeva, PhD; M. Michael Barmada, PhD; F. Yesim Demirci, MD; Carlos Cruchaga, PhD; Patricia L. Kramer, PhD; Nilufer Ertekin-Taner, MD, PhD; John Hardy, PhD; Neill R. Graff-Radford, MD; Robert C. Green, MD, MPH; Eric B. Larson, MD, MPH; Peter H. St. George-Hyslop, MD, FRCP; Joseph D. Buxbaum, PhD; Denis A. Evans, MD; Julie A. Schneider, MD; Kathryn L. Lunetta, PhD; M. Ilyas Kamboh, PhD; Andrew J. Saykin, PsyD; Eric M. Reiman, MD; Philip L. De Jager, MD, PhD; David A. Bennett, MD; John C. Morris, MD; Thomas J. Montine, MD, PhD; Alison M. Goate, DPhil; Deborah Blacker, MD; Debby W. Tsuang, MD; Hakon Hakonarson, MD, PhD; Walter A. Kukull, PhD; Tatiana M. Foroud, PhD; Eden R. Martin, PhD; Jonathan L. Haines, PhD; Richard P. Mayeux, MD; Lindsay A. Farrer, PhD; Gerard D. Schellenberg, PhD; Margaret A. Pericak-Vance, PhD; and the Alzheimer Disease Genetics Consortium
Includes: Supplemental Content

Importance  Because APOE locus variants contribute to risk of late-onset Alzheimer disease (LOAD) and to differences in age at onset (AAO), it is important to know whether other established LOAD risk loci also affect AAO in affected participants.

Objectives  To investigate the effects of known Alzheimer ...

Original Investigation 
So-Young Huh, MD; Su-Hyun Kim, MD; Jae-Won Hyun, MD; Ae-Ran Joung, RN; Min Su Park, MD; Byung-Jo Kim, MD, PhD; Ho Jin Kim, MD, PhD
Includes: Supplemental Content

Importance  Neuromyelitis optica spectrum disorder (NMOSD) is an autoimmune inflammatory disorder of the central nervous system. Recently, various immunosuppressant medications were introduced as therapeutic options for preventing relapse of NMOSD. However, our understanding of the effectiveness of mycophenolate mofetil (MMF) in treating patients with NMOSD is based ...

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 
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 ...

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