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 Showing 1-20 of 38 Articles
Original Investigation 
Jewell B. Thomas, BA; Matthew R. Brier, BS; Randall J. Bateman, MD; Abraham Z. Snyder, MD, PhD; Tammie L. Benzinger, MD, PhD; Chengjie Xiong, PhD; Marcus Raichle, MD; David M. Holtzman, MD; Reisa A. Sperling, MD; Richard Mayeux, MD; Bernardino Ghetti, MD; John M. Ringman, MD; Stephen Salloway, MD; Eric McDade, DO; Martin N. Rossor, MD; Sebastien Ourselin, PhD; Peter R. Schofield, PhD; Colin L. Masters, MD; Ralph N. Martins, PhD; Michael W. Weiner, MD; Paul M. Thompson, PhD; Nick C. Fox, MD; Robert A. Koeppe, PhD; Clifford R. Jack Jr, MD; Chester A. Mathis, PhD; Angela Oliver, RN; Tyler M. Blazey, BS; Krista Moulder, PhD; Virginia Buckles, PhD; Russ Hornbeck, MS; Jasmeer Chhatwal, MD, PhD; Aaron P. Schultz, PhD; Alison M. Goate, DPhil; Anne M. Fagan, PhD; Nigel J. Cairns, PhD; Daniel S. Marcus, PhD; John C. Morris, MD; Beau M. Ances, MD, PhD
Includes: Supplemental Content

Importance  Autosomal dominant Alzheimer disease (ADAD) is caused by rare genetic mutations in 3 specific genes in contrast to late-onset Alzheimer disease (LOAD), which has a more polygenetic risk profile.

Objective  To assess the similarities and differences in functional connectivity changes owing to ADAD and LOAD....

Importance  Intravenous thrombolysis remains the mainstay treatment for acute ischemic stroke. One of the most feared complications of the treatment is thrombolysis-related symptomatic intracerebral hemorrhage (sICH), which occurs in nearly 6% of patients and carries close to 50% mortality. The treatment options for sICH are based on ...

Autosomal dominant Alzheimer disease (ADAD) accounts for less than 1% of those affected by Alzheimer disease (AD) in the world’s population. However, because temporal progression is fairly predictable and the underlying neuropathology and clinical presentation parallel that of late-onset sporadic AD (sAD), it provides an important human model for research ...
Images in Neurology 
Fumiko Furukawa, MD; Satoru Ishibashi, MD, PhD; Nobuo Sanjo, MD, PhD; Hiroshi Yamashita, MD, PhD; Hidehiro Mizusawa, MD, PhD
Sporadic Creutzfeldt-Jakob disease (sCJD) accompanied by type 2 PrPSc and valine homozygosity at codon 129 (VV2) of the prion protein gene (PRNP) is a representative sCJD having the 129VV genotype, which does not show prominent myoclonus or periodic sharp wave complexes. Magnetic resonance imaging (MRI) findings of patients with sCJD ...
Case Report/Case Series 
Sandra Baez, MS; Blas Couto, MD, PhD; Teresa Torralva, PsyD; Luciano A. Sposato, MD, MBA; David Huepe, PhD; Patricia Montañes, PhD; Pablo Reyes, MS; Diana Matallana, PhD; Nora S. Vigliecca, PhD; Andrea Slachevsky, PhD; Facundo Manes, MD, MS; Agustin Ibanez, PhD
Includes: Supplemental Content

Importance  Several clinical reports have stated that patients with prefrontal lesions or patients with the behavioral variant of frontotemporal dementia share social cognition impairments. Moral reasoning is impaired in both conditions but there have been few investigations that directly compare this domain in the 2 groups.

Observations...

Original Investigation 
Adriano Chiò, MD; Andrea Calvo, MD, PhD; Giacomo Bovio, MD; Antonio Canosa, MD; Davide Bertuzzo, MD; Francesco Galmozzi; Paolo Cugnasco; Marinella Clerico, MD, PhD; Stefania De Mercanti, MD; Enrica Bersano, MD; Stefania Cammarosano, MD; Antonio Ilardi, MD; Umberto Manera, MD; Cristina Moglia, MD; Riccardo Sideri, PharmD; Kalliopi Marinou, MD; Edo Bottacchi, MD; Fabrizio Pisano, MD; Roberto Cantello, MD; Letizia Mazzini, MD; Gabriele Mora, MD; for the Piemonte and Valle d’Aosta Register for Amyotrophic Lateral Sclerosis (PARALS)
Includes: Supplemental Content

Importance  There is an urgent need to identify reliable biomarkers of amyotrophic lateral sclerosis (ALS) progression for clinical practice and pharmacological trials.

Objectives  To correlate several hematological markers evaluated at diagnosis with ALS outcome in a population-based series of patients (discovery cohort) and replicate the findings ...

Original Investigation 
Brian C. Callaghan, MD; Kevin A. Kerber, MD; Lynda L. Lisabeth, PhD; Lewis B. Morgenstern, MD; Ruth Longoria, AA; Ann Rodgers, BS; Paxton Longwell, MD; Eva L. Feldman, MD, PhD

Importance  Distal symmetric polyneuropathy (DSP) is a prevalent condition that results in high costs from diagnostic testing. However, the role of neurologists and diagnostic tests in patient care is unknown.

Objective  To determine how often neurologists and diagnostic tests influence the diagnosis and management of DSP ...

Original Investigation 
Elaine R. Peskind, MD; Ge Li, MD, PhD; Jane B. Shofer, MS; Steven P. Millard, PhD; James B. Leverenz, MD; Chang-En Yu, PhD; Murray A. Raskind, MD; Joseph F. Quinn, MD; Douglas R. Galasko, MD; Thomas J. Montine, MD, PhD

Importance  The Healthy Brain Initiative 2013-2018 seeks to optimize brain health as we age. Free radical injury is an important effector of molecular and cellular stress in the aging brain that derives from multiple sources.

Objective  To identify potentially modifiable risk factors associated with increased markers ...

Editorial 
Michael Swash, MD
Amyotrophic lateral sclerosis (ALS) is usually considered to begin when the first symptoms develop; an example is the onset of distal weakness and atrophy in an upper limb, often with fasciculation in a more widespread distribution.1 This definition of disease onset follows an understanding of the pattern of onset in ...
Original Investigation 
Margaux F. Keller, BA; Luigi Ferrucci, MD, PhD; Andrew B. Singleton, PhD; Pentti J. Tienari, MD; Hannu Laaksovirta, MD; Gabriella Restagno, MD; Adriano Chiò, MD; Bryan J. Traynor, MD, PhD; Michael A. Nalls, PhD
Includes: Supplemental Content

Importance  Considerable advances have been made in our understanding of the genetics underlying amyotrophic lateral sclerosis (ALS). Nevertheless, for the majority of patients who receive a diagnosis of ALS, the role played by genetics is unclear. Further elucidation of the genetic architecture of this disease will help ...

Original Investigation 
Kathryn C. Fitzgerald, MSc; Éilis J. O’Reilly, ScD; Guido J. Falcone, MD; Marjorie L. McCullough, ScD; Yikyung Park, ScD; Laurence N. Kolonel, MD, PhD; Alberto Ascherio, MD, DrPH
Includes: Supplemental Content

Importance  Amyotrophic lateral sclerosis (ALS) is a severe progressive disease that cannot be prevented or cured. Diet-derived long-chain polyunsaturated fatty acids (PUFAs) are incorporated in brain lipids and modulate oxidative and inflammatory processes and could thus affect ALS risk and progression.

Objective  To examine the association ...

Original Investigation 
Kori Sauser, MD, MSc; Deborah A. Levine, MD, MPH; Adrienne V. Nickles, MPH; Mathew J. Reeves, PhD
Includes: Supplemental Content

Importance  Given the limited time window available for treatment with tissue plasminogen activator (tPA) in patients with acute ischemic stroke, guidelines recommend door-to-imaging time (DIT) within 25 minutes of hospital arrival and door-to-needle (DTN) time within 60 minutes for patients with acute ischemic stroke. Despite improvements in ...

Case Report/Case Series 
Aloysius Domingo, MD; Lillian V. Lee, MD; Norbert Brüggemann, MD; Karen Freimann, MSc; Frank J. Kaiser, PhD; Roland D. G. Jamora, MD; Raymond L. Rosales, MD, PhD; Christine Klein, MD; Ana Westenberger, PhD
Includes: Supplemental Content

Importance  Despite recessive inheritance, X-linked dystonia-parkinsonism (Lubag disease) has also been described in women presenting with a late-onset isolated parkinsonian syndrome. Interestingly, unlike in other populations, there is a slight female predominance in the prevalence of parkinsonism in the Philippines.

Observations  In a Filipino woman with ...

Editorial 
Kevin N. Sheth, MD; Jonathan Rosand, MD, MSc
Intracerebral hemorrhage (ICH) is the most devastating form of stroke, conferring the highest morbidity and mortality of any stroke subtype.1 To date, most interventions have targeted hematoma expansion. However, ICH expansion occurs early after onset and only in a subset of patients. Therefore, treatments can only be given in the ...
Original Investigation 
Eleanna Kara, MD, MSc; Aoife P. Kiely, PhD; Christos Proukakis, MD, PhD; Nicola Giffin, MD; Seth Love, MD; Jason Hehir, BSc; Khadija Rantell, PhD; Amelie Pandraud, MSc; Dena G. Hernandez, MS; Elizabeth Nacheva, MD, PhD; Alan M. Pittman, PhD; Mike A. Nalls, PhD; Andrew B. Singleton, PhD; Tamas Revesz, MD; Kailash P. Bhatia, MD; Niall Quinn, MD; John Hardy, PhD; Janice L. Holton, MD, PhD; Henry Houlden, MD, PhD

Importance  α-Synuclein (SNCA) locus duplications are associated with variable clinical features and reduced penetrance but the reasons underlying this variability are unknown.

Objectives  To report a novel family carrying a heterozygous 6.4 Mb duplication of the SNCA locus with an atypical clinical presentation strongly ...

Original Investigation  FREE
Ying Fu, MD; Junwei Hao, MD, PhD; Ningnannan Zhang, MD, PhD; Li Ren, MD; Na Sun, MD; Yu-Jing Li, MD; Yaping Yan, PhD; DeRen Huang, MD, PhD; Chunshui Yu, MD, PhD; Fu-Dong Shi, MD, PhD

Importance  Pronounced inflammatory reactions occurring shortly after intracerebral hemorrhage (ICH) contribute to the formation and progression of perihematomal edema (PHE) and secondary brain injury. We hypothesized that modulation of brain inflammation reduces edema, thus improving clinical outcomes in patients with ICH.

Objective  To investigate whether oral ...

Viewpoint 
Walter J. Koroshetz, MD; Story Landis, PhD
The mission of the National Institutes of Health (NIH) is to seek fundamental knowledge about the nature and behavior of living systems and the application of that knowledge to enhance health, lengthen life, and reduce illness and disability. For more than a decade, the mission statement of the National Institute ...
Topics: neuroscience
Case Report/Case Series 
Karl B. Alstadhaug, MD, PhD; Thérèse Croughs, MD; Stian Henriksen, MSc; Céline Leboeuf, PhD; Irini Sereti, MD, MHS; Hans H. Hirsch, MD, MSc; Christine Hanssen Rinaldo, PhD
Includes: Supplemental Content

Importance  No reliable treatment options are known for progressive multifocal leukoencephalopathy with underlying immunodeficiency. We describe successful compassionate use of recombinant human interleukin 7 in a patient with idiopathic CD4+ T-cell lymphocytopenia.

Observations  After the diagnoses of progressive multifocal leukoencephalopathy and idiopathic CD4+ T-cell ...

Editorial 
Olaf Stüve, MD, PhD; Gary R. Cutter, PhD
Does natalizumab therapy benefit patients with multiple sclerosis (MS)? The obvious answer is yes. Natalizumab was approved for patients with relapsing forms of MS by regulatory agencies based on the results of 2 phase 3 clinical trials that showed substantial benefits with regard to clinical and paraclinical outcomes.1,2 Post hoc ...
Original Investigation 
Marinella Clerico, MD; Irene Schiavetti, BS; Stefania F. De Mercanti, MD; Federico Piazza, MD; Dario Gned, MD; Vincenzo Brescia Morra, MD; Roberta Lanzillo, MD; Angelo Ghezzi, MD; Anna Bianchi, BS; Giuseppe Salemi, MD; Sabrina Realmuto, MD; Patrizia Sola, MD; Francesca Vitetta, MD; Paola Cavalla, MD; Damiano Paolicelli, MD; Maria Trojano, MD; Maria Pia Sormani, BS; Luca Durelli, MD

Importance  The evaluation of therapeutic choices is needed after 24 doses of natalizumab in patients with multiple sclerosis (MS).

Objective  To evaluate the effect of therapeutic choices on the mean annualized relapse rate and on magnetic resonance imaging MS activity after 24 doses of natalizumab in ...

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