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 Showing 21-37 of 37 Articles
Original Investigation 
Joanne Trinh, BSc; Ilaria Guella, PhD; Matthew James Farrer, PhD
Includes: Supplemental Content

Importance  Mutations in SNCA, LRRK2, VPS35, EIF4G1, and DNAJC13 have been implicated in late-onset familial parkinsonism. However, the estimated disease penetrance of these mutations varies widely.

Objective  To compare penetrance of various mutations reported in published genetic studies to improve the understanding of late-onset parkinsonism....

Original Investigation 
Rebekah M. Ahmed, MBBS; Muireann Irish, PhD; Jonathan Kam, MD; Jolanda van Keizerswaard, BSc; Lauren Bartley, BSc; Katherine Samaras, PhD; John R. Hodges, MD; Olivier Piguet, PhD
Includes: Supplemental Content

Importance  Presence of eating abnormalities is one of the core criteria for the diagnosis of behavioral variant frontotemporal dementia (bvFTD), yet their occurrence in other subtypes of frontotemporal dementia (FTD) and effect on metabolic health is not known.

Objective  To define and quantify patterns of eating ...

Original Investigation 
Annette Langer-Gould, MD, PhD; Lei Qian, PhD; Sara Y. Tartof, PhD; Sonu M. Brara, MD; Steve J. Jacobsen, MD, PhD; Brandon E. Beaber, MD; Lina S. Sy, MPH; Chun Chao, PhD; Rulin Hechter, MD, PhD; Hung Fu Tseng, PhD, MPH
Includes: Supplemental Content

Importance  Because vaccinations are common, even a small increased risk of multiple sclerosis (MS) or other acquired central nervous system demyelinating syndromes (CNS ADS) could have a significant effect on public health.

Objective  To determine whether vaccines, particularly those for hepatitis B (HepB) and human papillomavirus ...

Case Report/Case Series 
Nandakumar Nagaraja, MD, MS; Steven Warach, MD, PhD; Amie W. Hsia, MD; Harold P. Adams Jr, MD; Sungyoung Auh, PhD; Lawrence L. Latour, PhD; José G. Merino, MD

Importance  Patients with stroke often have a decline in blood pressure after thrombolysis. Neurologic improvement could result from recanalization or better collateral flow despite persistent occlusion. We hypothesized that neurologic improvement with concurrent decline in blood pressure may be a clinical sign of recanalization after intravenous tissue ...

Editorial 
Luigi Ferini-Strambi, MD, PhD
Alzheimer disease (AD) is a current and growing public health problem that really has minimally effective therapies. Even a modest reduction in the risk of AD would have a tremendous public health impact. Interestingly, sleep disturbances are multifaceted and represent an early component of AD. The severity of sleep disruption ...
Original Investigation 
Sandra Barral, PhD; Stephanie Cosentino, PhD; Kaare Christensen, MD, PhD, DMSc; Anne B. Newman, PhD; Thomas T. Perls, MD; Michael A. Province, PhD; Richard Mayeux, MD, MSc; for the Long Life Family Study
Includes: Supplemental Content

Importance  There are genetic influences on memory ability as we age, but no specific genes have been identified.

Objective  To use a cognitive endophenotype, exceptional episodic memory (EEM) performance, derived from nondemented offspring from the Long Life Family Study (LLFS) to identify genetic variants that may ...

Original Investigation 
David S. Russell, MD, PhD; Olivier Barret, PhD; Danna L. Jennings, MD; Joseph H. Friedman, MD; Gilles D. Tamagnan, PhD; David Thomae, PhD; David Alagille, PhD; Thomas J. Morley, PhD; Caroline Papin, PhD; Spyridon Papapetropoulos, MD, PhD; Rikki N. Waterhouse, PhD; John P. Seibyl, MD; Kenneth L. Marek, MD
Includes: Supplemental Content

Importance  In Huntington disease (HD) striatal neuron loss precedes and predicts motor signs or symptoms. Current imaging biomarkers lack adequate sensitivity for assessing the early stages of HD. Developing an imaging biomarker for HD spanning the time of onset of motor signs remains a major unmet research ...

Original Investigation 
Claudio Liguori, MD; Andrea Romigi, MD, PhD; Marzia Nuccetelli, PhD; Silvana Zannino, MD; Giuseppe Sancesario, PhD; Alessandro Martorana, MD; Maria Albanese, MD; Nicola Biagio Mercuri, MD; Francesca Izzi, MD, PhD; Sergio Bernardini, MD; Alessandra Nitti, BSc; Giulia M. Sancesario, PhD; Francesco Sica, MD; Maria G. Marciani, MD, PhD; Fabio Placidi, MD, PhD
Includes: Supplemental Content

Importance  Nocturnal sleep disruption develops in Alzheimer disease (AD) owing to the derangement of the sleep-wake cycle regulation pathways. Orexin contributes to the regulation of the sleep-wake cycle by increasing arousal levels and maintaining wakefulness.

Objectives  To study cerebrospinal fluid levels of orexin in patients with ...

Case Report/Case Series 
Paola Caroppo, MD, PhD; Isabelle Le Ber, MD, PhD; Agnès Camuzat, MSc; Fabienne Clot, PhD; Lionel Naccache, MD, PhD; Foudil Lamari, MD; Anne De Septenville, PhD; Anne Bertrand, MD, PhD; Serge Belliard, MD, PhD; Didier Hannequin, MD; Olivier Colliot, PhD; Alexis Brice, MD
Includes: Supplemental Content

Importance  Mutations in the progranulin (GRN) gene are responsible for 20% of familial cases of frontotemporal dementias. All cause haploinsufficiency of progranulin, a protein involved in inflammation, tissue repair, and cancer. Carriers of the GRN mutation are characterized by a variable degree of asymmetric brain ...

Viewpoint 
John W. Krakauer, MD; Argye E. Hillis, MD, MA
This Viewpoint highlights aspects of future stroke treatment aimed at updating the behavioral examination and outcome measures.
Alzheimer disease (AD) is the most common dementia, with an estimated prevalence of 30 million people worldwide. Currently, there is no effective treatment that delays the onset or slows the progression of AD. β-Amyloid (Aβ), the key component of plaques, is thought to play a pivotal role in the initiation ...
Original Investigation 
Annalese G. Neuenschwander; Khanh K. Thai, MS; Karla P. Figueroa, MS; Stefan M. Pulst, MD
Includes: Supplemental Content

Importance  Repeats of CAG in the ataxin 2 gene (ATXN2) in the long-normal range (sometimes referred to as intermediate) have been identified as modifiers of amyotrophic lateral sclerosis (ALS) risk. Prior studies have used thresholding considering various cutoffs for ATXN2 repeat length.

Objective  ...

Original Investigation 
Qing Liu, BS; Shannon Waltz, BS; Grace Woodruff, BS; Joe Ouyang, PhD; Mason A. Israel, PhD; Cheryl Herrera, BA; Floyd Sarsoza, BA; Rudolph E. Tanzi, PhD; Edward H. Koo, MD; John M. Ringman, MD; Lawrence S. B. Goldstein, PhD; Steven L. Wagner, PhD; Shauna H. Yuan, MD
Includes: Supplemental Content

Importance  Although considerable effort has been expended developing drug candidates for Alzheimer disease, none have yet succeeded owing to the lack of efficacy or to safety concerns. One potential shortcoming of current approaches to Alzheimer disease drug discovery and development is that they rely primarily on transformed ...

Case Report/Case Series 
Camila C. Aquino, MD, MSc; Tiago Mestre, MD, MSc; Anthony E. Lang, MD, FRCPC

Importance  Symptoms in the genital region, such as pain, discomfort, tingling, and burning sensations, have rarely been reported in Parkinson disease (PD), and the previous cases were attributed to nonmotor off symptoms. We report a patient with PD and severe genital discomfort unrelated to motor fluctuations but ...

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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