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 Showing 21-38 of 38 Articles
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 ...

An increasing number of antineural IgG antibodies have been detected since the 1980s in patients with autoimmune central nervous system disease. Antibodies to intracellular antigens were initially found and antibodies to antigens on the neural surface have now been identified. Antibodies to the intracellular enzyme glutamic acid decarboxylase ...

Original Investigation 
Helena Ariño, MD; Romana Höftberger, MD; Nuria Gresa-Arribas, PhD; Eugenia Martínez-Hernández, MD, PhD; Thaís Armangue, MD; Michael C. Kruer, MD; Javier Arpa, MD, PhD; Julio Domingo, MD; Bojan Rojc, MD; Luis Bataller, MD, PhD; Albert Saiz, MD, PhD; Josep Dalmau, MD, PhD; Francesc Graus, MD, PhD
Includes: Supplemental Content

Importance  Little is known of glutamic acid decarboxylase antibodies (GAD-abs) in the paraneoplastic context. Clinical recognition of such cases will lead to prompt tumor diagnosis and appropriate treatment.

Objective  To report the clinical and immunological features of patients with paraneoplastic neurological syndromes (PNS) and GAD-abs.

Design, ...

Images in Neurology 
William F. Qubty, MD; Aref Al-Kali, MD; Lyell K. Jones Jr, MD

A blastic plasmacytoid dendritic cell neoplasm (BPDCN) is a rare hematologic, malignant neoplasm that characteristically presents with violaceous cutaneous lesions and involves bone marrow. Complications of the disease that affect the central nervous system have been described,1,2 but, to our knowledge, there have been no ...

Mya Caryn Schiess, MD; Jessika Suescun, MD

Parkinson disease (PD) is one of the most common age-related neurodegenerative diseases, affecting 1% of the population older than 60 years of age and 0.3% of the general population. It is a chronic, progressive disorder whose spectrum of clinical features can affect an individual for more than 40 ...

Original Investigation 
Seyed-Mohammad Fereshtehnejad, MD, MPH; Silvia Rios Romenets, MD; Julius B. M. Anang, MD, PhD; Véronique Latreille, PhD; Jean-François Gagnon, PhD; Ronald B. Postuma, MD, MSc
Includes: Supplemental Content

Importance  There is increasing evidence that Parkinson disease (PD) is heterogeneous in its clinical presentation and prognosis. Defining subtypes of PD is needed to better understand underlying mechanisms, predict disease course, and eventually design more efficient personalized management strategies.

Objectives  To identify clinical subtypes of PD, ...

Editorial: Clinical Determinants of Progression of Parkinson Disease; Mya Caryn Schiess, MD; Jessika Suescun, MD
Original Investigation 
Olena Korvatska, PhD; James B. Leverenz, MD; Suman Jayadev, MD; Pamela McMillan, PhD; Irina Kurtz, BS; Xindi Guo, BS; Malia Rumbaugh, MS; Mark Matsushita, MS; Santhosh Girirajan, MD, PhD; Michael O. Dorschner, PhD; Kostantin Kiianitsa, PhD; Chang-En Yu, PhD; Zoran Brkanac, MD; Gwenn A. Garden, MD, PhD; Wendy H. Raskind, MD, PhD; Thomas D. Bird, MD
Includes: Supplemental Content

Importance  The R47H variant in the triggering receptor expressed on myeloid cells 2 gene (TREM2), a modulator of the immune response of microglia, is a strong genetic risk factor for Alzheimer disease (AD) and possibly other neurodegenerative disorders.

Objective  To investigate a large family ...

Robert J. Fox, MD; Richard A. Rudick, MD

This Viewpoint discusses new areas of focus in multiple sclerosis, including progressive multiple sclerosis, contributors to multiple sclerosis, and learning from the real world.

Original Investigation 
Duygu Selcen, MD; Bisei Ohkawara, PhD; Xin-Ming Shen, PhD; Kathleen McEvoy, MD; Kinji Ohno, MD, PhD; Andrew G. Engel, MD

Importance  Congenital myasthenic syndromes (CMS) are heterogeneous disorders. Defining the phenotypic features, genetic basis, and pathomechanisms of a CMS is relevant to prognosis, genetic counseling, and therapy.

Objectives  To characterize clinical, structural, electrophysiologic, and genetic features of a CMS and to search for optimal therapy.

Design, ...

Original Investigation 
Leah D. Gershen, BS; Paolo Zanotti-Fregonara, MD, PhD; Irene H. Dustin, CRNP; Jeih-San Liow, PhD; Jussi Hirvonen, MD, PhD; William C. Kreisl, MD; Kimberly J. Jenko, MS; Sara K. Inati, MD; Masahiro Fujita, MD, PhD; Cheryl L. Morse, MS; Chad Brouwer, PhD; Jinsoo S. Hong, PhD; Victor W. Pike, PhD; Sami S. Zoghbi, PhD; Robert B. Innis, MD, PhD; William H. Theodore, MD
Includes: Supplemental Content

Importance  Neuroinflammation may play a role in epilepsy. Translocator protein 18 kDa (TSPO), a biomarker of neuroinflammation, is overexpressed on activated microglia and reactive astrocytes. A preliminary positron emission tomographic (PET) imaging study using carbon 11 ([11C])–labeled PBR28 in patients with temporal lobe epilepsy (TLE) ...

Original Investigation 
Regina Schlaeger, MD; Nico Papinutto, PhD; Alyssa H. Zhu, MSc; Iryna V. Lobach, PhD; Carolyn J. Bevan, MD, MS; Monica Bucci, MD; Antonella Castellano, MD; Jeffrey M. Gelfand, MD, MAS; Jennifer S. Graves, MD, PhD, MAS; Ari J. Green, MD, MCR; Kesshi M. Jordan, BS; Anisha Keshavan, BS; Valentina Panara, MD; William A. Stern, RT(MR); H.-Christian von Büdingen, MD; Emmanuelle Waubant, MD, PhD; Douglas S. Goodin, MD; Bruce A. C. Cree, MD, PhD, MAS; Stephen L. Hauser, MD; Roland G. Henry, PhD
Includes: Supplemental Content

Importance  In multiple sclerosis (MS), upper cervical cord gray matter (GM) atrophy correlates more strongly with disability than does brain or cord white matter (WM) atrophy. The corresponding relationships in the thoracic cord are unknown owing to technical difficulties in assessing GM and WM compartments by conventional ...

Images in Neurology 
Anita Tipirneni, MD; Diogo C. Haussen, MD; Jacques J. Morcos, MD; Dileep R. Yavagal, MD

A 79-year-old man presented with a 2-month history of falls, urinary retention, and constipation. Examination revealed spastic paraparesis and T3 sensory level. Magnetic resonance imaging (Figure 1A) and angiography (Figure 1B and C) revealed a type I spinal dural arteriovenous fistula (sDAVF) at the ...

Russell Lewis McLaughlin, PhD; Alice Vajda, PhD; Orla Hardiman, MD, FRCPI

This Viewpoint discusses different techniques for estimating the heritability of amyotrophic lateral sclerosis.

Original Investigation 
Marianthi-Anna Kioumourtzoglou, ScD; Ran S. Rotem, MS; Ryan M. Seals, MS; Ole Gredal, MD; Johnni Hansen, PhD; Marc G. Weisskopf, PhD, ScD
Includes: Supplemental Content

Importance  Although prior studies have suggested a role of cardiometabolic health on pathogenesis of amyotrophic lateral sclerosis (ALS), the association with diabetes mellitus has not been widely examined. Amyotrophic lateral sclerosis is the most common motor neuron disorder. Several vascular risk factors have been associated with decreased ...

Randolph S. Marshall, MD, MS

Importance  Intravenous recombinant tissue plasminogen activator (alteplase) was approved by the US Food and Drug Administration in 1996 for the treatment of acute ischemic stroke. Nearly 20 years later, it remains the only approved treatment, despite limitations in both efficacy and safety. With a growing capacity for ...

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