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 Showing 21-40 of 57 Articles
Clinical Implications of Basic Neuroscience Research 
David R. Corey, PhD

Importance  The ability to control gene expression with antisense oligonucleotides (ASOs) could provide a new treatment strategy for disease.

Objective  To review the use of ASOs for the treatment of neurological disorders.

Evidence Review  Articles were identified through a search of PubMed references from 2000 ...

Editorial: Therapeutic Potential of Synthetic Nucleic Acids for Neurological Diseases; Jill Sergesketter Butler, PhD; Marek Napierala, PhD
JAMA Neurology Clinical Challenge 
Zubeda Sheikh, MD; Weizhen Wang, MD; Machteld Hillen, MD

A man in his 30s presented with a 5-day history of vomiting, followed by lethargy and confusion. Two years prior, he had been hospitalized with coma with no identifiable precipitant. What is your diagnosis?

Comment & Response 
Mika H. Martikainen, MD, PhD; David J. Burn, PhD, FRCP; Doug M. Turnbull, PhD, FRCP

In Reply Finsterer and Zarrouk-Mahjoub list movement disorders not mentioned in our article1; however, we would question their relevance. The article they referenced by Gimelli et al2 reports 4 cases of inherited Tourette syndrome. Although the protein localizes to mitochondria, no evidence of mitochondrial dysfunction ...

Comment & Response 
Josef Finsterer, MD, PhD; Sinda Zarrouk-Mahjoub, PhD

To the Editor With interest we read the article by Martikainen et al1 about 42 genetically or biochemically confirmed adult (n = 30) and pediatric (n = 12) patients with a mitochondrial disorder (MID) who also presented with various types of an extrapyramidal movement disorder. We have the following comments and ...

Correction  FREE

In the Original Investigation article by Santos-Santos et al titled “Features of Patients With Nonfluent/Agrammatic Primary Progressive Aphasia With Underlying Progressive Supranuclear Palsy Pathology or Corticobasal Degeneration,” published online April 25, 2016, and also in the June 2016 print issue of JAMA Neurology,1 there was an ...

Identification of genes in which mutations cause autosomal dominant Alzheimer disease (ADAD) has opened up the opportunity to explore both human and animal models of the exponentially more common sporadic form of the disease (typically of later onset and therefore sometimes referred to as late-onset AD [LOAD]). Demonstration ...

Editorial 
William Jagust, MD

During the past decade we have experienced an astonishing change in the way we conduct research on Alzheimer disease (AD). Although the importance of the pathologic aggregated proteins—β-amyloid and tau—has long been suspected, understanding their links to symptoms required long-term clinical observation paired with postmortem examination of the ...

Original Investigation 
Gregory S. Day, MD, MSc, FRCPC; Erik S. Musiek, MD, PhD; Catherine M. Roe, PhD; Joanne Norton, MSN, RN, PMHCNS-BC; Alison M. Goate, DPhil; Carlos Cruchaga, PhD; Nigel J. Cairns, PhD, FRCPath; John C. Morris, MD

Importance  The amyloid hypothesis posits that disrupted β-amyloid homeostasis initiates the pathological process resulting in Alzheimer disease (AD). Autosomal dominant AD (ADAD) has an early symptomatic onset and is caused by single-gene mutations that result in overproduction of β-amyloid 42. To the extent that sporadic late-onset AD ...

Original Investigation 
Liang Wang, MD; Tammie L. Benzinger, MD, PhD; Yi Su, PhD; Jon Christensen, BS; Karl Friedrichsen, BS; Patricia Aldea, MS; Jonathan McConathy, MD; Nigel J. Cairns, PhD; Anne M. Fagan, PhD; John C. Morris, MD; Beau M. Ances, MD, PhD
Includes: Supplemental Content

Importance  In vivo tau imaging may become a diagnostic marker for Alzheimer disease (AD) and provides insights into the pathophysiology of AD.

Objective  To evaluate the usefulness of [18F]-AV-1451 positron emission tomography (PET) imaging to stage AD and assess the associations among β-amyloid (Aβ), ...

Editorial: Tau and β-Amyloid—The Malignant Duo; William Jagust, MD
Research Letter 
Roland Faigle, MD, PhD; Victor C. Urrutia, MD; Lisa A. Cooper, MD, MPH; Rebecca F. Gottesman, MD, PhD

This study compares racial differences in the use of 6 common nondiagnostic inpatient procedures after stroke.

Comment & Response 
Alexander Egeberg, MD, PhD; Jacob P. Thyssen, MD, PhD, DMSci

In Reply In their commentary, He et al correctly state that rosacea should be regarded as an umbrella term, as several pathogenic and clinical subtypes exist. However, they also note that we examined the risk in patients with ocular rosacea, but not in other rosacea subtypes. We kindly ...

Comment & Response 
Alice He, BS; Ronald J. Sweren, MD; Shawn G. Kwatra, MD

To the Editor The study by Egeberg et al1 in JAMA Neurology found that rosacea is an independent risk factor for Parkinson disease. This is an interesting finding; however, from an etiologic standpoint, we feel it is important to take into account that rosacea is a diverse ...

Comment & Response 
Athanasia Alexoudi, MD, MsC, PhD; Iliana Alexoudi, MD; Stylianos Gatzonis, MD, PhD

To the Editor We considered very interesting the article by Egeberg et al1 in JAMA Neurology demonstrating that rosacea constitutes an independent risk factor for Parkinson disease (PD). Clinically, rosacea is characterized by the features of neurogenic inflammation. The participation of the sensory and/or autonomic nervous system ...

In 2007, the detection of IgG antibodies against the N-methyl-d-aspartate receptor in young women with encephalopathy opened a new field in neurology: the study of encephalitides with antibodies directed against well-defined antigens on the surfaces of central nervous system neurons.1 In 2010, the Oxford ...

During the past 20 years, the clinical syndrome of behavioral variant frontotemporal dementia (bvFTD) has become better recognized, but it still represents a challenging diagnosis for many neurologists and psychiatrists, not to mention primary care physicians. Simultaneously, dramatic advances in our understanding of the neurobiological underpinnings of the ...

Original Investigation 
Bastien Joubert, MD; Margaux Saint-Martin, MSc; Nelly Noraz, PhD; Géraldine Picard, MSc; Veronique Rogemond, PhD; François Ducray, MD, PhD; Virginie Desestret, MD, PhD; Dimitri Psimaras, MD; Jean-Yves Delattre, MD, PhD; Jean-Christophe Antoine, MD; Jérôme Honnorat, MD, PhD

Importance  Autoantibodies against contactin-associated protein-like 2 (CASPR2) are observed in several neurological syndromes, including neuromyotonia (NMT), Morvan syndrome (MoS), and limbic encephalitis.

Objective  To characterize the clinical and biological presentations of patients with anti-CASPR2 antibodies in the cerebrospinal fluid (CSF).

Design, Setting, and Participants  We ...

Editorial: Contactin-Associated Protein-like 2 Antibodies; Christian G. Bien, MD
Original Investigation 
Kamalini G. Ranasinghe, MBBS, PhD; Katherine P. Rankin, PhD; Peter S. Pressman, MD; David C. Perry, MD; Iryna V. Lobach, PhD; William W. Seeley, MD; Giovanni Coppola, MD; Anna M. Karydas, BA; Lea T. Grinberg, MD, PhD; Tal Shany-Ur, PhD; Suzee E. Lee, MD; Gil D. Rabinovici, MD; Howard J. Rosen, MD; Maria Luisa Gorno-Tempini, MD, PhD; Adam L. Boxer, MD, PhD; Zachary A. Miller, MD; Winston Chiong, MD, PhD; Mary DeMay, MD; Joel H. Kramer, PsyD; Katherine L. Possin, PhD; Virginia E. Sturm, PhD; Brianne M. Bettcher, PhD; Michael Neylan, BA; Diana D. Zackey, BA; Lauren A. Nguyen, MA; Robin Ketelle, MS, RN; Nikolas Block, BA; Teresa Q. Wu, BA; Alison Dallich, BS; Natanya Russek, BS; Alyssa Caplan, BA; Daniel H. Geschwind, MD, PhD; Keith A. Vossel, MD, MSc; Bruce L. Miller, MD
Includes: Supplemental Content

Importance  Clearer delineation of the phenotypic heterogeneity within behavioral variant frontotemporal dementia (bvFTD) will help uncover underlying biological mechanisms and improve clinicians’ ability to predict disease course and to design targeted management strategies.

Objective  To identify subtypes of bvFTD syndrome based on distinctive patterns of atrophy ...

Editorial: Behavioral Variant Frontotemporal Dementia; David S. Knopman, MD
Review 
Vivek Misra, MD; William J. Hicks, MD; Farhaan Vahidy, MD; Susan Alderman, RN; Sean I. Savitz, MD

Importance  Clinical trials are under way to test the safety and efficacy of different types of cell therapies in patients with ischemic stroke. The informed consent process for recruitment of patients with stroke in cell therapy trials is complex and requires extensive discussions on multiple aspects.

Observations...

Comment & Response 
S. Ali Nabavizadeh, MD

To the Editor I read with interest the evidence-based review by Jones and Cascino.1 The authors performed a systematic review of 27 studies with 3163 patients who underwent epilepsy surgery and demonstrated that magnetic resonance imaging–identified mesial temporal sclerosis is associated with a favorable outcome after surgery, ...

Comment & Response 
Gregory D. Cascino, MD; Amy L. Jones, MD

In Reply We thank Nabavizadeh for his interest in our article.1 We appreciate the importance of surgical technique in the care and management of patients with medial temporal lobe epilepsy (MTLE) associated with mesial temporal sclerosis (MTS). The operative strategy in 25 of the 27 studies appeared ...

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