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Original Contribution | April 22, 2013 
Systemic Metabolic Abnormalities in Adult-onset Acid Maltase Deficiency:  Beyond Muscle Glycogen Accumulation
Juan M. Pascual, MD, PhD; Charles R. Roe, MD
ImportanceImportance The physiological relevance of acid maltase (acid α-glucosidase, an enzyme that degrades lysosomal glycogen) is well recognized in liver and muscle. ...
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JAMA Neurol. Published online April 22, 2013. doi:10.1001/jamaneurol.2013.1507
Original Contribution | April 22, 2013 
Hereditary Ataxia and Spastic Paraplegia in Portugal:  A Population-Based Prevalence Study
Paula Coutinho, MD, PhD; Luis Ruano, MD, MPH; José L. Loureiro, MD, PhD; Vitor T. Cruz, MD; José Barros, MD; Assunção Tuna, MD; Clara Barbot, MD, PhD; João Guimarães, MD; Isabel Alonso, PhD; Isabel Silveira, PhD; Jorge Sequeiros, MD, PhD; José Marques Neves, MD; Pedro Serrano, MD; M. Carolina Silva, PhD
Includes: Supplemental Content
ImportanceImportance Epidemiological data on hereditary cerebellar ataxia (HCA) and hereditary spastic paraplegia (HSP) are scarce.ObjectiveObjective To present the prevalence and distribution of ...
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JAMA Neurol. Published online April 22, 2013. doi:10.1001/jamaneurol.2013.1707
Observation | April 22, 2013 
Improvement of White Matter Changes on Neuroimaging Modalities After Stem Cell Transplant in Metachromatic Leukodystrophy
Martje E. van Egmond, MD; Petra J. W. Pouwels, PhD; Jaap-Jan Boelens, MD, PhD; Caroline A. Lindemans, MD, PhD; Frederik Barkhof, MD, PhD; Martijn D. Steenwijk, MSc; Peter M. van Hasselt, MD, PhD; Marjo S. van der Knaap, MD, PhD; Nicole I. Wolf, MD, PhD
ImportanceImportance We sought to illustrate improvement of cerebral white matter changes in metachromatic leukodystrophy after treatment with hematopoietic stem cell transplant (HSCT).ObservationsObservations ...
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JAMA Neurol. Published online April 22, 2013. doi:10.1001/jamaneurol.2013.629
Original Contribution | April 15, 2013 
C9orf72 Hexanucleotide Repeat Expansions in Clinical Alzheimer Disease
Matthew Harms, MD; Bruno A. Benitez, MD; Nigel Cairns, PhD; Breanna Cooper, BS; Paul Cooper, BS; Kevin Mayo, BA; David Carrell, BS; Kelley Faber, MS; Jennifer Williamson, MS; Tom Bird, MD; Ramon Diaz-Arrastia, MD; Tatiana M. Foroud, PhD; Bradley F. Boeve, MD; Neill R. Graff-Radford, MBChB; Richard Mayeux, MD, MS; Sumitra Chakraverty, MS; Alison M. Goate, PhD; Carlos Cruchaga, PhD; for the NIA-LOAD/NCRAD Family Study Consortium
Includes: Supplemental Content
ImportanceImportance Hexanucleotide repeat expansions in the chromosome 9 open reading frame 72 (C9orf72) gene underlie a significant fraction of frontotemporal dementia and ...
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JAMA Neurol. Published online April 15, 2013. doi:10.1001/2013.jamaneurol.537
Original Contribution | April 15, 2013 
C9orf72 Hexanucleotide Repeat Expansion and Guam Amyotrophic Lateral Sclerosis–Parkinsonism-Dementia Complex
Beth A. Dombroski, PhD; Douglas R. Galasko, MD; Ignacio F. Mata, PhD; Cyrus P. Zabetian, MD, MS; Ulla-Katrina Craig, PhD; Ralph M. Garruto, PhD; Kiyomitsu Oyanagi, MD, PhD; Gerard D. Schellenberg, PhD
ImportanceImportance High-prevalence foci of amyotrophic lateral sclerosis (ALS) and parkinsonism-dementia complex (PDC) exist in Japanese on the Kii Peninsula of Japan and ...
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JAMA Neurol. Published online April 15, 2013. doi:10.1001/jamaneurol.2013.1817
Original Contribution | April 15, 2013 
A Multicenter Study of Glucocerebrosidase Mutations in Dementia With Lewy Bodies
Michael A. Nalls, PhD; Raquel Duran, PhD; Grisel Lopez, MD; Marzena Kurzawa-Akanbi, PhD; Ian G. McKeith, FMedSci; Patrick F. Chinnery, PhD; Christopher M. Morris, PhD; Jessie Theuns, PhD; David Crosiers, MD, PhD; Patrick Cras, MD, PhD; Sebastiaan Engelborghs, MD, PhD; Peter Paul De Deyn, MD, PhD; Christine Van Broeckhoven, PhD, DSc; David M. A. Mann, PhD; Julie Snowden, PhD; Stuart Pickering-Brown, PhD; Nicola Halliwell, BSc; Yvonne Davidson, MSc; Linda Gibbons, MSc; Jenny Harris, BSc; Una-Marie Sheerin, MD; Jose Bras, PhD; John Hardy, PhD; Lorraine Clark, PhD; Karen Marder, MD, MPH; Lawrence S. Honig, MD, PhD; Daniela Berg, MD; Walter Maetzler, MD; Kathrin Brockmann, MD; Thomas Gasser, MD; Fabiana Novellino, MD; Aldo Quattrone, MD; Grazia Annesi, PhD; Elvira Valeria De Marco, PhD; Ekaterina Rogaeva, PhD; Mario Masellis, MD, PhD; Sandra E. Black, MD; Juan M. Bilbao, MD; Tatiana Foroud, PhD; Bernardino Ghetti, MD; William C. Nichols, PhD; Nathan Pankratz, PhD; Glenda Halliday, PhD; Suzanne Lesage, PhD; Stephan Klebe, MD, PhD; Alexandra Durr, MD, PhD; Charles Duyckaerts, MD, PhD; Alexis Brice, MD; Benoit I. Giasson, PhD; John Q. Trojanowski, MD, PhD; Howard I. Hurtig, MD; Nahid Tayebi, PhD; Claudia Landazabal; Melanie A. Knight, PhD; Margaux Keller, BA; Andrew B. Singleton, PhD; Tyra G. Wolfsberg, PhD; Ellen Sidransky, MD
Includes: Supplemental Content
ImportanceImportance While mutations in glucocerebrosidase (GBA1) are associated with an increased risk for Parkinson disease (PD), it is important to establish whether ...
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JAMA Neurol. Published online April 15, 2013. doi:10.1001/jamaneurol.2013.1925
Editorial | April 15, 2013 
Glucocerebrosidase Mutations:  Tipping Point Toward Parkinson Disease and Dementia?
Christine Klein, MD; Dimitri Krainc, MD, PhD
The accumulation and aggregation of mutant proteins that are commonly observed in different neurodegenerative disorders is suggestive of a shared pathogenic mechanism. ...
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JAMA Neurol. Published online April 15, 2013. doi:10.1001/jamaneurol.2013.87
Neurological Review | April 9, 2013 
Understanding Neurological Disease Mechanisms in the Era of Epigenetics
Irfan A. Qureshi, MD; Mark F. Mehler, MD
The burgeoning field of epigenetics is making a significant impact on our understanding of brain evolution, development, and function. In fact, it ...
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JAMA Neurol. Published online April 09, 2013. doi:10.1001/jamaneurol.2013.1443
Neurological Review | April 9, 2013 
Epigenetic Determinants of Healthy and Diseased Brain Aging and Cognition
Schahram Akbarian, MD, PhD; Michal Schnaider Beeri, PhD; Vahram Haroutunian, PhD
A better understanding of normal and diseased brain aging and cognition will have a significant public health impact, given that the oldest-old ...
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JAMA Neurol. Published online April 09, 2013. doi:10.1001/jamaneurol.2013.1459
Neurological Review | April 9, 2013 
Genetic Analysis in Neurology:  The Next 10 Years
Alan Pittman, PhD; John Hardy, PhD
In recent years, neurogenetics research had made some remarkable advances owing to the advent of genotyping arrays and next-generation sequencing. These improvements ...
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JAMA Neurol. Published online April 09, 2013. doi:10.1001/jamaneurol.2013.2068
Neurological Review | April 9, 2013 
An Inflection Point in Gene Discovery Efforts for Neurodegenerative Diseases:  From Syndromic Diagnoses Toward Endophenotypes and the Epigenome
Philip L. De Jager, MD; David A. Bennett, MD
We are at an inflection point in our study of the human genome as it relates to neurodegenerative disease. The sequencing of ...
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JAMA Neurol. Published online April 09, 2013. doi:10.1001/jamaneurol.2013.275
Editorial | April 9, 2013 
From the Genetic Code to Neuromics
Roger N. Rosenberg, MD
In 1968, Marshall Nirenberg won the Nobel Prize in Medicine for deciphering the genetic code. At the time, I was a postdoctoral ...
JAMA Neurol. Published online April 09, 2013. doi:10.1001/jamaneurol.2013.2854
Neurological Review | April 9, 2013  FREE
The Neurogenomics View of Neurological Diseases
Shoji Tsuji, MD, PhD
The availability of high-throughput genome sequencing technologies is expected to revolutionize our understanding of not only hereditary neurological diseases but also sporadic ...
JAMA Neurol. Published online April 09, 2013. doi:10.1001/jamaneurol.2013.734
Images in Neurology | April 1, 2013 
Nocturnal Cramps:  A Nerve Problem
Marco Luigetti, MD; Fioravante Capone, MD; Massimo Del Bene, MD; Federico Ranieri, MD; Vincenzo Di Lazzaro, MD
A 43-year-old woman was admitted to our department to investigate a 6-month history of nocturnal cramps and pain in her left leg. ...
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JAMA Neurol. Published online April 01, 2013. doi:10.1001/jamaneurol.2013.1943
Images in Neurology | April 1, 2013 
Corneomandibular Reflex (Wartenberg Reflex) in Coma:  A Rarely Elicited Sign
Ioannis Heliopoulos, MD, PhD; Konstantinos Vadikolias, MD, PhD; Georgios Tsivgoulis, MD, PhD; Dimitrios Mikroulis, MD, PhD; Soultana Tsakaldimi, MD; Charitomeni Piperidou, MD, PhD
A 52-year-old man underwent emergent surgery for a dissecting aneurysm of aorta type A (dissection of ascending, arch, and descending thoracic aorta) ...
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JAMA Neurol. Published online April 01, 2013. doi:10.1001/jamaneurol.2013.1944
Observation | November 5, 2012 
Sporadic Jakob-Creutzfeldt Disease Presenting as Primary Progressive Aphasia
David Y. Johnson, MD; Diana L. Dunkelberger, MA; Maya Henry, PhD; Aissatou Haman, MD; Michael D. Greicius, MD, PhD; Katherine Wong, BA; Stephen J. DeArmond, MD, PhD; Bruce L. Miller, MD; Maria Luisa Gorno-Tempini, MD, PhD; Michael D. Geschwind, MD, PhD
ObjectiveObjective To report the clinical, neuropsychological, linguistic, imaging, and neuropathological features of a unique case of sporadic Jakob-Creutzfeldt disease in which the ...
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Arch Neurol. Published online November 05, 2012. doi:10.1001/jamaneurol.2013.139
Editorial | October 22, 2012 
GlyRα1, GAD65, Amphiphysin, and Gephyrin Autoantibodies:  Leading or Supporting Roles in Stiff-Person Disorders?
David Pleasure, MD
In this issue of Archives, McKeon et al1 report that 10 of 81 patients with stiff-man syndrome from the Mayo Clinic in ...
Arch Neurol. Published online October 22, 2012. doi:10.1001/jamaneurol.2013.455
Clinical Pathologic Conference | October 15, 2012 
A 62-Year-Old Man With Fluctuating Neurological Deficits and Skin Lesions
John J. Konikkara, MD; Osvaldo H. Perurena, MD; Steven Warach, MD, PhD; Steven C. Bauserman, MD
A 62-year-old man with no significant medical history experienced fatigue, night sweats, hoarseness of voice, and dry cough, which were followed by ...
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Arch Neurol. Published online October 15, 2012. doi:10.1001/archneurol.2013.469
Observation | October 15, 2012 
Persistent Intrathecal Antibody Synthesis 15 Years After Recovering From Anti– N-methyl-D-aspartate Receptor Encephalitis
Hans-Christian Hansen, MD; Christine Klingbeil; Josep Dalmau, MD, PhD; Wenhan Li, MD; Benedikt Weißbrich, MD; Klaus-Peter Wandinger, MD
BackgroundBackground Anti– N-methyl-D-aspartate receptor (NMDAR) encephalitis is a severe autoimmune disorder characterized by high intrathecal antibody synthesis. Little is known about the ...
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Arch Neurol. Published online October 15, 2012. doi:10.1001/archneurol.2013.585
Original Contribution | October 8, 2012 
Predictors of Outcome in Refractory Status Epilepticus
Sara E. Hocker, MD; Jeffrey W. Britton, MD; Jayawant N. Mandrekar, PhD; E. F. M. Wijdicks, MD, PhD; Alejandro A. Rabinstein, MD
Includes: Supplemental Content
ObjectiveObjective To further characterize the demographics, outcomes, and prognostic factors for refractory status epilepticus (RSE).DesignDesign Retrospective analysis of all the episodes of ...
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Arch Neurol. Published online October 08, 2012. doi:10.1001/archneurol.2013.578

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