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Basic View | Expanded View
 Showing 1-20 of 39 Articles
Mathias Toft, MD, PhD; Owen A. Ross, PhD

We are entering an exciting time, with the concept of precision or individualized medicine directing clinical diagnostics, selection criteria for targeted clinical trials, and patient-tailored therapeutic intervention strategies. Indeed, technological advances have elevated genetic studies and opened an opportunity to gain insight into the genome that could not ...

Original Investigation 
Ronald C. Petersen, PhD, MD; Heather J. Wiste, BA; Stephen D. Weigand, MS; Walter A. Rocca, MD, MPH; Rosebud O. Roberts, MB, ChB; Michelle M. Mielke, PhD; Val J. Lowe, MD; David S. Knopman, MD; Vernon S. Pankratz, PhD; Mary M. Machulda, PhD; Yonas E. Geda, MD; Clifford R. Jack Jr, MD
Includes: Supplemental Content

Importance  The role of amyloid in the progression of Alzheimer disease (AD) pathophysiology is of central interest to the design of randomized clinical trials. The presence of amyloid has become a prerequisite for enrollment in several secondary prevention trials for AD, yet the precise effect of elevated ...

Original Investigation 
Janice L. Farlow, PhD; Laurie A. Robak, MD, PhD; Kurt Hetrick, MS; Kevin Bowling, PhD; Eric Boerwinkle, PhD; Zeynep H. Coban-Akdemir, PhD; Tomasz Gambin, PhD; Richard A. Gibbs, PhD; Shen Gu, PhD; Preti Jain, PhD; Joseph Jankovic, MD; Shalini Jhangiani, MS; Kaveeta Kaw, BS; Dongbing Lai, PhD; Hai Lin, BS; Hua Ling, PhD; Yunlong Liu, PhD; James R. Lupski, MD, PhD, DSc; Donna Muzny, MS; Paula Porter, MPhil; Elizabeth Pugh, PhD; Janson White, BS; Kimberly Doheny, PhD; Richard M. Myers, PhD; Joshua M. Shulman, MD, PhD; Tatiana Foroud, PhD
Includes: Supplemental Content

Importance  Parkinson disease (PD) is a progressive neurodegenerative disease for which susceptibility is linked to genetic and environmental risk factors.

Objective  To identify genetic variants contributing to disease risk in familial PD.

Design, Setting, and Participants  A 2-stage study design that included a discovery cohort ...

Editorial: Exome Variant Mining in Familial Parkinson Disease; Mathias Toft, MD, PhD; Owen A. Ross, PhD
Michele A. Gatheridge, MD; Jennifer M. Kwon, MD; Jerry M. Mendell, MD; Günter Scheuerbrandt, PhD; Stuart J. Moat, PhD; François Eyskens, MD, PhD; Cheryl Rockman-Greenberg, MD, CM; Anthi Drousiotou, PhD; Robert C. Griggs, MD

Importance  Duchenne muscular dystrophy (DMD) is a candidate for the recommended universal screening panel based on evidence that early corticosteroid treatment improves outcomes and on new genetic therapies that require early diagnosis for effectiveness. Elevated creatine kinase levels in the neonatal period are the initial screening marker ...

Observation  FREE
Jennifer Liebenthal, MD; Jason Valerio, MSc, MD, FRCPC; Chad Ruoff, MD; Mark Mahowald, MD

This case report describes a man in his late 60s with sleep behavior disorder and worsening dream enactment behavior.

E. Ray Dorsey, MD, MBA; George Ritzer, PhD, MBA

This Viewpoint discusses the consequences of applying the principles of the fast-food restaurant—efficiency, calculability, predictability, and control—to medicine.

Original Investigation 
The Huntington Study Group PHAROS Investigators
Includes: Supplemental Content

Importance  Identifying measures that are associated with the cytosine-adenine-guanine (CAG) expansion in individuals before diagnosis of Huntington disease (HD) has implications for designing clinical trials.

Objective  To identify the earliest features associated with the motor diagnosis of HD in the Prospective Huntington at Risk Observational Study ...

Original Investigation 
Rosebud O. Roberts, MB, ChB; Teresa J. H. Christianson, BS; Walter K. Kremers, PhD; Michelle M. Mielke, PhD; Mary M. Machulda, PhD; Maria Vassilaki, MD, PhD; Rabe E. Alhurani, MBBS; Yonas E. Geda, MD; David S. Knopman, MD; Ronald C. Petersen, MD, PhD

Importance  To increase the opportunity to delay or prevent mild cognitive impairment (MCI) or Alzheimer disease (AD) dementia, markers of early detection are essential. Olfactory impairment may be an important clinical marker and predictor of these conditions and may help identify persons at increased risk.

Objective  ...

Original Investigation 
Laura Eisenmenger, MD; Marie-Claire Porter, MD; Christopher J. Carswell, PhD; Andrew Thompson, PhD; Simon Mead, PhD; Peter Rudge, FRCP; John Collinge, FRS; Sebastian Brandner, MD, FRCPath; Hans R. Jäger, MD, FRCR; Harpreet Hyare, PhD
Includes: Supplemental Content

Importance  Prion diseases represent the archetype of brain diseases caused by protein misfolding, with the most common subtype being sporadic Creutzfeldt-Jakob disease (sCJD), a rapidly progressive dementia. Diffusion-weighted imaging (DWI) has emerged as the most sensitive magnetic resonance imaging (MRI) sequence for the diagnosis of sCJD, but ...

Research Letter 
Jonathan Graff-Radford, MD; Keith A. Josephs, MD, MST, MSc; Joseph E. Parisi, MD; Dennis W. Dickson, MD; Caterina Giannini, MD, PhD; Bradley F. Boeve, MD

This case report describes a woman in her 60s who presented with progressive anomia with loss of word knowledge, prosopagnosia, and surface dyslexia.

R. Loch Macdonald, MD, PhD

In this issue of JAMA Neurology, Suwatcharangkoon et al1 retrospectively analyze a prospective series of 1460 patients with spontaneous subarachnoid hemorrhage (SAH). Forty percent of the patients had loss of consciousness (LOC) at the onset of SAH. The key finding was that LOC was associated with ...

Original Investigation 
Ying Xian, MD, PhD; Jerome J. Federspiel, MD, PhD; Maria Grau-Sepulveda, MD, MPH; Adrian F. Hernandez, MD, MHS; Lee H. Schwamm, MD; Deepak L. Bhatt, MD, MPH; Eric E. Smith, MD, MPH; Mathew J. Reeves, PhD; Laine Thomas, PhD; Laura Webb, MS; Janet Prvu Bettger, ScD; Daniel T. Laskowitz, MD, MHS; Gregg C. Fonarow, MD; Eric D. Peterson, MD, MPH
Includes: Supplemental Content

Importance  Intravenous tissue plasminogen activator (tPA) is known to improve outcomes in ischemic stroke; however, many patients may have been receiving antiplatelet therapy before acute ischemic stroke and could face an increased risk for bleeding when treated with tPA.

Objective  To assess the risks and benefits ...

Original Investigation 
Sureerat Suwatcharangkoon, MD; Emma Meyers, BA; Cristina Falo, PhD; J. Michael Schmidt, PhD; Sachin Agarwal, MD, MPH; Jan Claassen, MD, PhD; Stephan A. Mayer, MD
Includes: Supplemental Content

Importance  Loss of consciousness (LOC) is a common presenting symptom of subarachnoid hemorrhage (SAH) that is presumed to result from transient intracranial circulatory arrest.

Objective  To clarify the association between LOC at onset of SAH, complications while in the hospital, and long-term outcome after SAH.

Design, ...

Editorial: Subarachnoid Hemorrhage and Loss of Consciousness; R. Loch Macdonald, MD, PhD
Images in Neurology 
Menachem Gold, MD

This case report describes a man in his 30s with a history of sickle cell disease and tonic-clonic seizures.

Research Letter 
Frederick W. Vonberg, MA, MBBS; Tim B. Bigdeli, PhD

This retrospective case-control analysis used a technique called linkage disequilibrium score regression to estimate the genetic correlation between schizophrenia and epilepsy.

Axel Montagne, PhD; Arthur W. Toga, PhD; Berislav V. Zlokovic, MD, PhD

This Viewpoint discusses the benefits and risks of gadolinium-based contrast agents used in magnetic resonance imaging in relation to blood-brain barrier permeability.

Original Investigation 
Robert A. Hauser, MD; Fabrizio Stocchi, MD; Olivier Rascol, MD; Susan B. Huyck, DrPH; Rachel Capece, BS; Tony W. Ho, MD; Peter Sklar, MD; Christopher Lines, PhD; David Michelson, MD; David Hewitt, MD
Includes: Supplemental Content

Importance  Preladenant is an adenosine 2A receptor antagonist that reduced “off” time in a placebo-controlled phase 2b trial in patients with Parkinson disease (PD). We sought to confirm its efficacy in phase 3 trials.

Objective  To evaluate preladenant as an adjunct to levodopa in patients with ...

Original Investigation 
Thabele M. Leslie-Mazwi, MD; Joshua A. Hirsch, MD; Guido J. Falcone, MD, MPH; Pamela W. Schaefer, MD; Michael H. Lev, MD; James D. Rabinov, MD; Natalia S. Rost, MD, MPH; Lee Schwamm, MD; R. Gilberto González, MD

Importance  Which imaging modality is optimal to select patients for endovascular stroke treatment remains unclear.

Objective  To evaluate the effectiveness of specific magnetic resonance imaging (MRI) and clinical criteria in the selection of patients with acute ischemic stroke for thrombectomy.

Design, Setting, and Participants  In ...

Original Investigation 
Henrik Zetterberg, MD, PhD; Tobias Skillbäck, MD; Niklas Mattsson, MD, PhD; John Q. Trojanowski, MD, PhD; Erik Portelius, PhD; Leslie M. Shaw, PhD; Michael W. Weiner, MD, PhD; Kaj Blennow, MD, PhD; for the Alzheimer’s Disease Neuroimaging Initiative

Importance  The extent to which large-caliber axonal degeneration contributes to Alzheimer disease (AD) progression is unknown. Cerebrospinal fluid (CSF) neurofilament light (NFL) concentration is a general marker of damage to large-caliber myelinated axons.

Objective  To test whether CSF NFL concentration is associated with cognitive decline and ...

JAMA Neurology Clinical Challenge 
Simona Lattanzi, MD; Leandro Provinciali, MD

A woman in her 30s presented with acute-onset sleepiness and decrease in consciousness, no history of neurologic disease or substance use, and laboratory findings within reference ranges. What is your diagnosis?

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