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 Showing 21-40 of 48 Articles
Henrik Zetterberg, MD, PhD; Kaj Blennow, MD, PhD

Recent biomarker studies suggest that the pathological changes of Alzheimer disease (AD) start with Aβ deposition as early as 20 to 30 years prior to symptom onset,1 a window of time that holds promise for therapeutic intervention to reverse or slow down the disease. Aβ deposition is ...

Original Investigation 
Mahdi Ghani, MD, PhD; Christiane Reitz, MD, PhD; Rong Cheng, PhD; Badri Narayan Vardarajan, PhD; Gyungah Jun, PhD; Christine Sato, MSc; Adam Naj, PhD; Ruchita Rajbhandary, MPH; Li-San Wang, PhD; Otto Valladares, MS; Chiao-Feng Lin, PhD; Eric B. Larson, MD, MPH; Neill R. Graff-Radford, MD; Denis Evans, MD; Philip L. De Jager, MD, PhD; Paul K. Crane, MD, MPH; Joseph D. Buxbaum, PhD; Jill R. Murrell, PhD; Towfique Raj, PhD; Nilufer Ertekin-Taner, MD, PhD; Mark Logue, PhD; Clinton T. Baldwin, PhD; Robert C. Green, MD, MPH; Lisa L. Barnes, PhD; Laura B. Cantwell, MPH; M. Daniele Fallin, PhD; Rodney C. P. Go, PhD; Patrick A. Griffith, MD; Thomas O. Obisesan, MD; Jennifer J. Manly, PhD; Kathryn L. Lunetta, PhD; M. Ilyas Kamboh, PhD; Oscar L. Lopez, MD; David A. Bennett, MD; Hugh Hendrie, MB, ChB, DSc; Kathleen S. Hall, PhD; Alison M. Goate, PhD; Goldie S. Byrd, PhD; Walter A. Kukull, PhD; Tatiana M. Foroud, PhD; Jonathan L. Haines, PhD; Lindsay A. Farrer, PhD; Margaret A. Pericak-Vance, PhD; Joseph H. Lee, PhD; Gerard D. Schellenberg, PhD; Peter St. George-Hyslop, MD; Richard Mayeux, MD; Ekaterina Rogaeva, PhD; for the Alzheimer’s Disease Genetics Consortium
Includes: Supplemental Content

Importance  Mutations in known causal Alzheimer disease (AD) genes account for only 1% to 3% of patients and almost all are dominantly inherited. Recessive inheritance of complex phenotypes can be linked to long (>1-megabase [Mb]) runs of homozygosity (ROHs) detectable by single-nucleotide polymorphism (SNP) arrays.

Objective  ...

Original Investigation 
Maartje I. Kester, MD, PhD; Charlotte E. Teunissen, PhD; Daniel L. Crimmins, PhD; Elizabeth M. Herries, BA; Jack. H. Ladenson, PhD; Philip Scheltens, MD, PhD; Wiesje M. van der Flier, PhD; John C. Morris, MD; David M. Holtzman, MD; Anne M. Fagan, PhD

Importance  Neurogranin (NGRN) seems to be a promising novel cerebrospinal fluid (CSF) biomarker for synaptic loss; however, clinical, and especially longitudinal, data are sparse.

Objective  To examine the utility of NGRN, with repeated CSF sampling, for diagnosis, prognosis, and monitoring of Alzheimer disease (AD).

Design, Setting, ...

Editorial: Neurogranin Levels in Cerebrospinal Fluid; Henrik Zetterberg, MD, PhD; Kaj Blennow, MD, PhD
Original Investigation 
Joshua W. Miller, PhD; Danielle J. Harvey, PhD; Laurel A. Beckett, PhD; Ralph Green, MD, PhD; Sarah Tomaszewski Farias, PhD; Bruce R. Reed, PhD; John M. Olichney, MD; Dan M. Mungas, PhD; Charles DeCarli, MD
Includes: Supplemental Content

Importance  Vitamin D (VitD) deficiency is associated with brain structural abnormalities, cognitive decline, and incident dementia.

Objective  To assess associations between VitD status and trajectories of change in subdomains of cognitive function in a cohort of ethnically diverse older adults.

Design, Setting, and Participants  Longitudinal ...

Images in Neurology 
Lia D. Ernst, MD; Kenneth Brock, BA; Luis H. Barraza, MD; Adam Davis, MD; Melissa J. Nirenberg, MD, PhD

This case report describes a previously healthy 30-year-old man who developed limb paresthesias and incoordination. Initial magnetic resonance imaging was normal, but over the subsequent 8 weeks, he developed a bandlike sensation across the torso and profound sensory ataxia.

Carol F. Lippa, MD

This Viewpoint explores ways in which medical insurance coverage in the United States should better approach costs associated with Alzheimer disease.

Myla D. Goldman, MD; Olaf Stüve, MD, PhD

Multiple sclerosis (MS) is a posited autoimmune disorder of the central nervous system with both inflammatory and degenerative features. Despite the rapidly expanding therapeutic repertoire for relapsing MS, we remain limited in our ability to alter the progressive course of MS. Indeed, results of therapeutic trials in progressive ...

Brian J. Wainger, MD, PhD; Merit E. Cudkowicz, MD, MSc

Amyotrophic lateral sclerosis (ALS) is a devastating disease of the motor nervous system. While most cases are sporadic, approximately 5% to 10% of cases are familial and result from mutation in 1 of more than 25 known ALS genes. These genes span a surprisingly broad range of molecular ...

Original Investigation 
Ryan Ramanujam, PhD; Anna-Karin Hedström, MD; Ali Manouchehrinia, PhD; Lars Alfredsson, PhD; Tomas Olsson, MD, PhD; Matteo Bottai, PhD; Jan Hillert, MD, PhD

Importance  Smoking tobacco is a well-established risk factor for multiple sclerosis (MS), a chronic inflammatory disorder of the central nervous system usually characterized by bouts and remissions and typically followed by a secondary progressive (SP) course. However, it is not clear whether smoking after diagnosis is detrimental....

Editorial: Smoking Beyond Multiple Sclerosis Diagnosis; Myla D. Goldman, MD; Olaf Stüve, MD, PhD
Original Investigation 
Nimeshan Geevasinga, MBBS; Parvathi Menon, PhD; Garth A. Nicholson, PhD; Karl Ng, PhD; James Howells, PhD; Jillian J. Kril, PhD; Con Yiannikas, MBBS; Matthew C. Kiernan, DSc; Steve Vucic, PhD

Importance  The identification of the chromosome 9 open reading frame 72 (c9orf72) gene hexanucleotide repeat expansion represents a major advance in the understanding of amyotrophic lateral sclerosis (ALS) pathogenesis. The pathophysiological mechanism by which the c9orf72 gene expansion leads to neurodegeneration is not yet elucidated. ...

Editorial: Cortical Hyperexcitability in Amyotrophic Lateral Sclerosis; Brian J. Wainger, MD, PhD; Merit E. Cudkowicz, MD, MSc
Original Investigation 
Maria A. Nagel, MD; Teresa White, BS; Nelly Khmeleva, BS; April Rempel, BS; Philip J. Boyer, MD, PhD; Jeffrey L. Bennett, MD, PhD; Andrea Haller, MD; Kelly Lear-Kaul, MD; Balasurbramaniyam Kandasmy, MD; Malena Amato, MD; Edward Wood, MD; Vikram Durairaj, MD; Franz Fogt, MD; Madhura A. Tamhankar, MD; Hans E. Grossniklaus, MD; Robert J. Poppiti, MD; Brian Bockelman, MD; Kathy Keyvani, MD; Lea Pollak, MD; Sonia Mendlovic, MD; Mary Fowkes, MD, PhD; Charles G. Eberhart, MD, PhD; Mathias Buttmann, MD; Klaus V. Toyka, MD; Tobias Meyer-ter-Vehn, MD; Vigdis Petursdottir, MD; Don Gilden, MD
Includes: Supplemental Content

Importance  Giant cell arteritis (GCA) is the most common systemic vasculitis in elderly individuals. Diagnosis is confirmed by temporal artery (TA) biopsy, although biopsy results are often negative. Despite the use of corticosteroids, disease may progress. Identification of causal agents will improve outcomes. Biopsy-positive GCA is associated ...

Original Investigation 
Kerstin Hellwig, MD; Milena Rockhoff, MD; Sandra Herbstritt, PharmD; Nadja Borisow, MD; Aiden Haghikia, MD; Birte Elias-Hamp, MD; Sylvia Menck, MD; Ralf Gold, MD; Annette Langer-Gould, MD, PhD

Importance  Women with multiple sclerosis (MS) experience an elevated risk of relapse after giving birth. The effect of exclusive breastfeeding on postpartum risk of MS relapse is unclear.

Objectives  To determine the effect of exclusive breastfeeding on postpartum risk of MS relapse and to investigate the ...

Special Communication 
Michelle Bowman, MD; Michael Racke, MD; John Kissel, MD; Jaime Imitola, MD

“Stem cell tourism” is a rising Internet-based industry that aims to offer unproven procedures to patients with incurable diseases. This unregulated activity is reaching the neurologist’s office as well as across the world, as patients request information or clearance for such procedures. Herein, we posit the need for ...

Stephen Salloway, MD, MS; Reisa Sperling, MD, MMSc

How accurate is the clinical diagnosis of Alzheimer disease (AD), and can we identify factors that predict other etiologies for dementia? In this issue of JAMA Neurology, Monsell et al1 report that 25% of individuals clinically diagnosed as having mild to moderate Alzheimer dementia with a ...

Original Investigation 
Sarah E. Monsell, MS; Walter A. Kukull, PhD; Alex E. Roher, MD, PhD; Chera L. Maarouf, BS; Geidy Serrano, PhD; Thomas G. Beach, MD, PhD; Richard J. Caselli, MD; Thomas J. Montine, MD, PhD; Eric M. Reiman, MD
Includes: Supplemental Content

Importance  β-Amyloid peptide (Aβ) plaques are a cardinal neuropathologic feature of Alzheimer disease (AD), yet more than one-third of apolipoprotein E ε4 (APOE4) noncarriers with the clinical diagnosis of mild to moderate Alzheimer dementia may not meet positron emission tomographic criteria for significant cerebral amyloidosis....

Editorial: Conflicting Neuropathological Findings in Alzheimer Dementia; Stephen Salloway, MD, MS; Reisa Sperling, MD, MMSc
Original Investigation 
Mark H. Tuszynski, MD, PhD; Jennifer H. Yang, BS; David Barba, MD; Hoi-Sang U, MD; Roy A. E. Bakay, MD; Mary M. Pay, NP; Eliezer Masliah, MD; James M. Conner, PhD; Peter Kobalka, MD; Subhojit Roy, MD, PhD; Alan H. Nagahara, PhD
Includes: Supplemental Content

Importance  Alzheimer disease (AD) is the most common neurodegenerative disorder and lacks effective disease-modifying therapies. In 2001, we initiated a clinical trial of nerve growth factor (NGF) gene therapy in AD, the first effort at gene delivery in an adult neurodegenerative disorder. This program aimed to determine ...

Original Investigation 
Mark H. B. Huisman, MD; Meinie Seelen, MD, PhD; Perry T. C. van Doormaal, MD; Sonja W. de Jong, MD, PhD; Jeanne H. M. de Vries, PhD; Anneke J. van der Kooi, MD, PhD; Marianne de Visser, MD, PhD; H. Jurgen Schelhaas, MD, PhD; Leonard H. van den Berg, MD, PhD; Jan H. Veldink, MD, PhD
Includes: Supplemental Content

Importance  Because dietary intake may influence pathophysiologic mechanisms in sporadic amyotrophic lateral sclerosis (ALS), the association between premorbid dietary intake and the risk of sporadic ALS will provide insight into which mechanisms are possibly involved in ALS pathophogenesis.

Objective  To systematically determine the association between premorbid ...

Original Investigation 
Stefanie Schreiber, MD; Susan M. Landau, PhD; Allison Fero, BSc; Frank Schreiber, MSc; William J. Jagust, MD; for the Alzheimer’s Disease Neuroimaging Initiative
Includes: Supplemental Content

Importance  The applicability of β-amyloid peptide (Aβ) positron emission tomography (PET) as a biomarker in clinical settings to aid in selection of individuals at preclinical and prodromal Alzheimer disease (AD) will depend on the practicality of PET image analysis. In this context, visual-based Aβ PET assessment seems ...

Original Investigation 
Bastien Joubert, MD; Philippe Kerschen, MD; Anastasia Zekeridou, MD; Virginie Desestret, MD, PhD; Véronique Rogemond, PhD; Marie-Océane Chaffois, BTech; François Ducray, MD, PhD; Vincent Larrue, MD, PhD; Benoit Daubail, MD; Ahmed Idbaih, MD, PhD; Dimitri Psimaras, MD; Jean-Christophe Antoine, MD, PhD; Jean-Yves Delattre, MD, PhD; Jérôme Honnorat, MD, PhD
Includes: Supplemental Content

Importance  The clinical features of autoimmune encephalitis associated with antibodies against the α-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid receptor (AMPAR-Abs) remain poorly defined.

Objectives  To describe 7 patients with encephalitis and AMPAR-Abs and to provide a review of the literature on this disease entity.

Design, Setting, and Participants  The ...

Images in Neurology 
Jung E. Park, MD; Katharine Alter, MD; Mark Hallett, MD

This case report describes involuntary lingual dyskinesia with nearly continuous rhythmic movements of the genioglossus in a patient with multiple sclerosis.

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