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 Showing 1-20 of 34 Articles
Original Investigation 
Auriel A. Willette, PhD; Barbara B. Bendlin, PhD; Erika J. Starks, BS; Alex C. Birdsill, PhD; Sterling C. Johnson, PhD; Bradley T. Christian, PhD; Ozioma C. Okonkwo, PhD; Asenath La Rue, PhD; Bruce P. Hermann, PhD; Rebecca L. Koscik, PhD; Erin M. Jonaitis, PhD; Mark A. Sager, MD; Sanjay Asthana, MD
Includes: Supplemental Content

Importance  Converging evidence suggests that Alzheimer disease (AD) involves insulin signaling impairment. Patients with AD and individuals at risk for AD show reduced glucose metabolism, as indexed by fludeoxyglucose F 18–labeled positron emission tomography (FDG-PET).

Objectives  To determine whether insulin resistance predicts AD-like global and regional ...

Original Investigation 
Joseph H. Lee, DrPH; Rong Cheng, PhD; Badri Vardarajan, PhD; Rafael Lantigua, MD; Dolly Reyes-Dumeyer, BS; Ward Ortmann, PhD; Robert R. Graham, PhD; Tushar Bhangale, PhD; Timothy W. Behrens, MD; Martin Medrano, MD; Ivonne Z. Jiménez-Velázquez, MD; Richard Mayeux, MD, MSc
Includes: Supplemental Content

Importance  The present study identified potential genetic modifiers that may delay or accelerate age at onset of familial Alzheimer disease (AD) by examining age at onset in PSEN1 mutation carrier families, and further investigation of these modifiers may provide insight into the pathobiology of AD and potential ...

Clinical Pathologic Conference  FREE
Kathleen E. McKee, MD; Mark R. Etherton, MD, PhD; Scott B. Lovitch, MD, PhD; Anoopum S. Gupta, MD, PhD; Douglas S. Micalizzi, MD, PhD; Travis Tierney, MD, PhD; Martha Wadleigh, MD; Henrikas Vaitkevicus, MD

A man in his 40s presented with 1 month of worsening confusion, fatigue, and headache. Results from laboratory analyses were notable for a complete white blood cell count of 17 000/μL (31% blast cells), a platelet count of 76 000/μL, and a hemoglobin level of 16.6 g/dL. Imaging studies revealed ...

The field of multiple sclerosis (MS) has benefited immensely from brain magnetic resonance imaging (MRI) scans as a biomarker of white matter inflammatory lesions. Magnetic resonance imaging has become an essential component of clinical practice to confirm diagnosis, identify new therapies, stratify disease severity, and monitor treatment response. ...

Necrotizing autoimmune myopathy (NAM) is a recently defined subcategory of the acquired idiopathic myopathies, characterized clinically by the subacute onset of proximal weakness, elevated creatine kinase levels, and electromyography revealing an irritable myopathy.1 It is distinguished from other acquired inflammatory myopathies (eg, polymyositis and dermatomyositis) by the ...

Original Investigation  FREE
Charles D. Kassardjian, MD; Vanda A. Lennon, MD, PhD; Nora B. Alfugham, MBBS; Michael Mahler, PhD; Margherita Milone, MD, PhD
Includes: Supplemental Content

Importance  Necrotizing autoimmune myopathy (NAM) is characterized pathologically by necrotic muscle fibers with absent or minimal inflammation. It is often accompanied by statin therapy, connective tissue diseases, cancer, and autoantibodies specific for signal recognition particle (SRP) or 3-hydroxy-3-methylglutaryl–coenzyme A reductase (HMGCR). Data are limited concerning differences among ...

Editorial: The Clinical Spectrum of Necrotizing Autoimmune Myopathy; Matthew N. Meriggioli, MD
Original Investigation 
Daniel M. Harrison, MD; Snehashis Roy, PhD; Jiwon Oh, MD; Izlem Izbudak, MD; Dzung Pham, PhD; Susan Courtney, PhD; Brian Caffo, PhD; Craig K. Jones, PhD; Peter van Zijl, PhD; Peter A. Calabresi, MD
Includes: Supplemental Content

Importance  Cortical lesions (CLs) contribute to physical and cognitive disability in multiple sclerosis (MS). Accurate methods for visualization of CLs are necessary for future clinical studies and therapeutic trials in MS.

Objective  To evaluate the clinical relevance of measures of CL burden derived from high-field magnetic ...

Editorial: Cortical Lesions in Multiple Sclerosis; Robert T. Naismith, MD
W. Oliver Tobin, MB BCh, PhD; Sean J. Pittock, MD

Neuromyelitis optica (NMO) spectrum disorders represent an evolving group of central nervous system–inflammatory autoimmune demyelinating diseases unified by a pathogenic autoantibody specific for the aquaporin 4 (AQP4) water channel.1 Disability is attack related and accrues incrementally, in contrast to multiple sclerosis, where disability generally occurs progressively in ...

Original Investigation 
Su-Hyun Kim, MD; In Hye Jeong, MD; Jae-Won Hyun, MD; AeRan Joung, RN; Hyo-Jin Jo, BS; Sang-Hyun Hwang, MD, PhD; Sooin Yun, MS; Jungnam Joo, PhD; Ho Jin Kim, MD, PhD
Includes: Supplemental Content

Importance  Despite the increased use of rituximab therapy in neuromyelitis optica spectrum disorder (NMOSD), the overall efficacy and safety of long-term rituximab treatment in a large group of patients is uncertain. Furthermore, the identification of a predictor of rituximab response is an important issue for assessing the ...

Editorial: Rituximab Therapy in Neuromyelitis Optica; W. Oliver Tobin, MB BCh, PhD; Sean J. Pittock, MD
Original Investigation  FREE
Nicholas M. Gregg, MD; Albert E. Kim, MD; M. Edip Gurol, MD, MS; Oscar L. Lopez, MD; Howard J. Aizenstein, MD, PhD; Julie C. Price, PhD; Chester A. Mathis, PhD; Jeffrey A. James, BS; Beth E. Snitz, PhD; Ann D. Cohen, PhD; M. Ilyas Kamboh, PhD; Davneet Minhas, BS; Lisa A. Weissfeld, PhD; Erica L. Tamburo, MS; William E. Klunk, MD, PhD
Includes: Supplemental Content

Importance  Cerebral microbleeds (CMBs) are collections of blood breakdown products that are a common incidental finding in magnetic resonance imaging of elderly individuals. Cerebral microbleeds are associated with cognitive deficits, but the mechanism is unclear. Studies show that individuals with CMBs related to symptomatic cerebral amyloid angiopathy ...

Thijs van der Vaart, MSc; Iris E. Overwater, MSc; Rianne Oostenbrink, MD, PhD; Henriëtte A. Moll, MD, PhD; Ype Elgersma, PhD
Includes: Supplemental Content

Importance  Knowing the underlying etiology of intellectual disability in genetic disorders holds great promise for developing targeted treatments. Although successful preclinical studies and many positive clinical studies have been reported, it is unclear how many purported therapies have become established treatments. The quality of the clinical trials ...

Images in Neurology 
Sanjay Pandey, DM; Neelav Sarma, MD

This Images in Neurology article summarizes clinical features, diagnosis, and management of post-stroke stereotypy.

Jean-Baptiste LePichon, MD, PhD; Carol J. Saunders, PhD; Sarah E. Soden, MD

This Viewpoint reports on the development of next-generation sequencing and its transformative capacity in health care, which stems in part from the synergism between translational research and clinical programs.

Jacqueline A. French, MD; Kimford Meador, MD

Epilepsy is a common disease that affects 1 in 26 individuals in their lifetime.1 According to a National Institute of Neurological Disorders and Stroke assessment, with 2 million affected individuals, epilepsy ranks only fourth to migraine, stroke, and Alzheimer disease in the prevalence of neurological disorders. Epilepsy ...

Original Investigation  FREE
Sarah C. MacDonald, BSc; Brian T. Bateman, MD, MSc; Thomas F. McElrath, MD, PhD; Sonia Hernández-Díaz, MD, DrPH
Includes: Supplemental Content

Importance  Between 0.3% and 0.5% of all pregnancies occur among women with epilepsy. Evidence suggests an increase in perinatal morbidity and mortality among women with epilepsy. However, these risks have not been quantified in large population-based samples.

Objective  To report on the risk for death and ...

Editorial: Risks of Epilepsy During Pregnancy; Jacqueline A. French, MD; Kimford Meador, MD
Original Investigation 
Courtney L. Sutphen, BS; Mateusz S. Jasielec, MS; Aarti R. Shah, MS; Elizabeth M. Macy, BA; Chengjie Xiong, PhD; Andrei G. Vlassenko, MD, PhD; Tammie L. S. Benzinger, MD, PhD; Erik E. J. Stoops, Eng; Hugo M. J. Vanderstichele, PhD; Britta Brix, PhD; Heather D. Darby, MSc; Manu L. J. Vandijck, MSc; Jack H. Ladenson, PhD; John C. Morris, MD; David M. Holtzman, MD; Anne M. Fagan, PhD
Includes: Supplemental Content

Importance  Individuals in the presymptomatic stage of Alzheimer disease (AD) are increasingly being targeted for AD secondary prevention trials. How early during the normal life span underlying AD pathologies begin to develop, their patterns of change over time, and their relationship with future cognitive decline remain to ...

Images in Neurology 
Kimmo J. Hatanpaa, MD, PhD; Franklin Fuda, DO; Prasad Koduru, PhD; Ken Young, MD; Bradley Lega, MD; Weina Chen, MD, PhD

An immunocompetent woman in her mid-60s initially presented with episodes of spasms and tremors in her right hand and forearm. Lymphoma cells were present in cerebrospinal fluid but not in bone marrow. Findings are diagnostic of the lymphomatosis cerebri variant of diffuse, large B-cell lymphoma.

Nicole Rosendale, MD; S. Andrew Josephson, MD

This Viewpoint explores the challenges and potential disparities of the lesbian, gay, bisexual, and trangender community in neurological care.

Original Investigation 
Yakeel T. Quiroz, PhD; Aaron P. Schultz, PhD; Kewei Chen, PhD; Hillary D. Protas, PhD; Michael Brickhouse, BS; Adam S. Fleisher, MD; Jessica B. Langbaum, PhD; Pradeep Thiyyagura, MS; Anne M. Fagan, PhD; Aarti R. Shah, MS; Martha Muniz, MA; Joseph F. Arboleda-Velasquez, MD, PhD; Claudia Munoz, BA; Gloria Garcia, MS; Natalia Acosta-Baena, MD; Margarita Giraldo, MD; Victoria Tirado, MS; Dora L. Ramírez, MA; Pierre N. Tariot, MD; Bradford C. Dickerson, MD; Reisa A. Sperling, MD, MMSc; Francisco Lopera, MD; Eric M. Reiman, MD

Importance  Brain imaging and fluid biomarkers are characterized in children at risk for autosomal dominant Alzheimer disease (ADAD).

Objective  To characterize and compare structural magnetic resonance imaging (MRI), resting-state and task-dependent functional MRI, and plasma amyloid-β (Aβ) measurements in presenilin 1 (PSEN1) E280A mutation–carrying ...

Images in Neurology 
Jordi Pérez-Bovet, MD; Jordi Rimbau-Muñoz, MD

A man in his mid-60s had a 6-week progression of motor and sensitive disturbances in all 4 limbs. He had a history of episodic cervicalgia but no active neck pain. Examination revealed distal 3/5 paresis in the arms, distal 4/5 paresis in the legs, paresthesia-hypoesthesia in all limbs ...

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