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 Showing 21-34 of 34 Articles
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 
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
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.

Design...

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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