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 Showing 21-39 of 39 Articles
Original Investigation 
Pankaj B. Agrawal, MD; Mugdha Joshi, MBBS; Nicholas S. Marinakis, BA; Klaus Schmitz-Abe, PhD; Pedro D. S. C. Ciarlini, MD; Jane C. Sargent, MD; Kyriacos Markianos, PhD; Umberto De Girolami, MD; David A. Chad, MD; Alan H. Beggs, PhD
Includes: Supplemental Content

Importance  Newer sequencing technologies in combination with traditional gene mapping techniques, such as linkage analysis, can help identify the genetic basis of disease for patients with rare disorders of uncertain etiology. This approach may expand the phenotypic spectrum of disease associated with those genetic mutations.

Objective  ...

Original Investigation 
Sara J. Ireland, BA; Alyssa A. Guzman, BS; Dina E. O’Brien, BS; Samuel Hughes; Benjamin Greenberg, MD; Angela Flores, MD; Donna Graves, MD; Gina Remington, BSN, RN; Elliot M. Frohman, MD, PhD; Laurie S. Davis, PhD; Nancy L. Monson, PhD
Includes: Supplemental Content

Importance  This study describes what is, to our knowledge, the previously unknown effect of glatiramer acetate therapy on B cells in patients with relapsing-remitting multiple sclerosis (MS).

Objective  To determine whether glatiramer acetate therapy normalizes dysregulated B-cell proliferation and cytokine production in patients with MS.

Design, ...

Marco A. Gonzalez-Castellon, MD; Randolph S. Marshall, MD, MS
The relationship between statin use and intracerebral hemorrhage (ICH) has not been definitively established. Studies show both benefit and detriment. Statins may decrease the level of platelet aggregation and thrombogenesis and thus worsen an ICH, but they also modulate the immune system, inhibit the inflammatory process, and improve cerebral blood ...
Original Investigation 
Alexander C. Flint, MD, PhD; Carol Conell, PhD; Vivek A. Rao, MD; Jeff G. Klingman, MD; Stephen Sidney, MD, MPH; S. Claiborne Johnston, MD, PhD; J. Claude Hemphill, MD; Hooman Kamel, MD; Stephen M. Davis, MD, FRACP; Geoffrey A. Donnan, MD, FRACP
Includes: Supplemental Content

Importance  Statin use during hospitalization is associated with improved survival and a better discharge disposition among patients with ischemic stroke. It is unclear whether inpatient statin use has a similar effect among patients with intracerebral hemorrhage (ICH).

Objective  To determine whether inpatient statin use in ICH ...

Alissa A. Thomas, MD; Cameron W. Brennan, MD; Lisa M. DeAngelis, MD; Antonio M. Omuro, MD

Importance  Glioblastoma is the most common primary malignant brain tumor, but despite multimodal treatment with surgery, radiotherapy, and temozolomide chemotherapy, the prognosis is poor, with a median survival of 16 to 19 months and poor quality of life throughout the disease course. New treatments are needed.

Evidence ...

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 ...

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 ...

Joseph Jankovic, MD; Todd Sherer, PhD
This Viewpoint highlights aspects of future research aimed at addressing critical questions about Parkinson disease.
In this issue of Archives, McKeon et al1 report that 10 of 81 patients with stiff-man syndrome from the Mayo Clinic in Rochester, Minnesota, had serum and/or cerebrospinal fluid IgG antibodies that bound to fixed, permeabilized HEK293 cells (an immortalized human kidney line) that had been transfected to express the ...
Topics: autoantibodies
Original Contribution  FREE
Ross W. Paterson, MRCP; Charles C. Torres-Chae, MPA; Amy L. Kuo, MS, RN, GNP; Tim Ando, BA; Elizabeth A. Nguyen, BS; Katherine Wong, BS; Stephen J. DeArmond, MD, PhD; Aissa Haman, MD; Paul Garcia, MD; David Y. Johnson; Bruce L. Miller, MD; Michael D. Geschwind, MD, PhD

Objectives To identify the misdiagnoses of patients with sporadic Jakob-Creutzfeldt disease (sCJD) during the course of their disease and determine which medical specialties saw patients with sCJD prior to the correct diagnosis being made and at what point in the disease course a correct diagnosis was made.


Original Contribution  FREE
Yafei Huang, PhD; Rachel Potter, BA; Wendy Sigurdson, MSN; Tom Kasten, PhD; Rose Connors, BA; John C. Morris, MD; Tammie Benzinger, MD; Mark Mintun, MD; Tim Ashwood, PhD; Mats Ferm, PhD; Samantha L. Budd, PhD; Randall J. Bateman, MD
Includes: Supplemental Content

Objectives To investigate dynamic changes in human plasma β-amyloid (Aβ) concentrations, evaluate the effects of aging and amyloidosis on these dynamics, and determine their correlation with cerebrospinal fluid (CSF) Aβ concentrations.

Design A repeated plasma and CSF sampling study.

Setting The Washington University School of Medicine in St ...

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