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Original Contribution | May 13, 2013 
Clinical and Biochemical Differences in Patients Having Parkinson Disease With vs Without GBA Mutations
Lama M. Chahine, MD; Judy Qiang, BA; Emily Ashbridge; James Minger, BA; Dora Yearout, BS; Stacy Horn, DO; Amy Colcher, MD; Howard I. Hurtig, MD; Virginia M-Y. Lee, PhD; Vivianna M. Van Deerlin, MD, PhD; James B. Leverenz, MD; Andrew D. Siderowf, MD, MSCE; John Q. Trojanowski, MD, PhD; Cyrus P. Zabetian, MD, MS; Alice Chen-Plotkin, MD
Includes: Supplemental Content
ImportanceImportance Biochemical abnormalities present in GBA (mut/wt) carriers may offer new pathogenetic insights to and potential therapeutic targets in Parkinson disease (PD).ObjectiveObjective ...
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JAMA Neurol. Published online May 13, 2013. doi:10.1001/jamaneurol.2013.1274
Observation | May 13, 2013 
Autoantibodies in Sporadic Creutzfeldt-Jakob Disease
Heather Angus-Leppan, MD, FRCP; Peter Rudge, FRCP; Simon Mead, PhD, FRCP; John Collinge, MD, FRCP, FRS; Angela Vincent, FRCPath, FRS
ImportanceImportance The diagnosis of autoimmune and neurodegenerative conditions can be unclear. Treatments such as removing the associated tumor, if present, and immunosuppression ...
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JAMA Neurol. Published online May 13, 2013. doi:10.1001/jamaneurol.2013.2077
Editorial | May 13, 2013 
Emergency Management of Acute Ischemic Stroke:  The Evolving Roles of Intravenous and Endovascular Therapies
Harold P. Adams, MD; Michael T. Froehler, MD, PhD
In 1996, the US Food and Drug Administration approved the use of intravenous recombinant tissue plasminogen activator (rtPA) for the treatment of ...
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JAMA Neurol. Published online May 13, 2013. doi:10.1001/jamaneurol.2013.2948
Original Contribution | May 13, 2013  FREE
Comparison of Final Infarct Volumes in Patients Who Received Endovascular Therapy or Intravenous Thrombolysis for Acute Intracranial Large-Vessel Occlusions
Srikant Rangaraju, MD; Kumiko Owada, MD; Ali Reza Noorian, MD; Raul G. Nogueira, MD; Fadi Nahab, MD; Brenda A. Glenn, RN, BSN, ACNP; Samir R. Belagaje, MD; Aaron M. Anderson, MD; Michael R. Frankel, MD; Rishi Gupta, MD
ImportanceImportance Studies comparing the efficacy of intra-arterial therapy (IAT) and medical therapy in reducing final infarct volume (FIV) in intracranial large-vessel occlusions ...
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JAMA Neurol. Published online May 13, 2013. doi:10.1001/jamaneurol.2013.413
Clinical Implications of Basic Neuroscience Research | May 13, 2013 
TRIM Proteins in Therapeutic Membrane Repair of Muscular Dystrophy
Jenna Alloush; Noah Weisleder, PhD
Muscular dystrophy represents a major unmet medical need; only palliative treatments exist for this group of debilitating diseases. Because multiple forms of ...
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JAMA Neurol. Published online May 13, 2013. doi:10.1001/jamaneurol.2013.469
Neurological Review | May 6, 2013 
Diagnosis of Pompe Disease:  Muscle Biopsy vs Blood-Based Assays
John Vissing, MD, DMSci; Zoltan Lukacs, PhD; Volker Straub, MD, PhD
The diagnosis of Pompe disease (acid maltase deficiency, glycogen storage disease type II) in children and adults can be challenging because of ...
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JAMA Neurol. Published online May 06, 2013. doi:10.1001/2013.jamaneurol.486
Original Contribution | May 6, 2013 
Nocturnal Rapid Eye Movement Sleep Latency for Identifying Patients With Narcolepsy/Hypocretin Deficiency
Olivier Andlauer, MD; Hyatt Moore, MSc; Laura Jouhier, MD; Christopher Drake, PhD; Paul E. Peppard, PhD; Fang Han, MD; Seung-Chul Hong, MD, PhD; Francesca Poli, MD; Giuseppe Plazzi, MD; Ruth O’Hara, PhD; Emmanuel Haffen, MD, PhD; Thomas Roth, PhD; Terry Young, PhD; Emmanuel Mignot, MD, PhD
Includes: Supplemental Content
ImportanceImportance Narcolepsy, a disorder associated with HLA-DQB1*06:02 and caused by hypocretin (orexin) deficiency, is diagnosed using the Multiple Sleep Latency Test (MSLT) ...
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JAMA Neurol. Published online May 06, 2013. doi:10.1001/jamaneurol.2013.1589
Original Contribution | May 6, 2013 
Reduced Prevalence of Cognitive Impairment in Families With Exceptional Longevity
Stephanie Cosentino, PhD; Nicole Schupf, PhD; Kaare Christensen, PhD; Stacy L. Andersen, MA; Anne Newman, PhD; Richard Mayeux, MD
Includes: Supplemental Content
ImportanceImportance Family studies of centenarians and long-lived persons have found substantial familial aggregation of survival to extreme ages; however, the extent to ...
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JAMA Neurol. Published online May 06, 2013. doi:10.1001/jamaneurol.2013.1959
Observation | May 6, 2013 
Fatal B-cell Lymphoma Following Chronic Lymphocytic Inflammation With Pontine Perivascular Enhancement Responsive to Steroids
Hjalmar J. De Graaff, BSc; Mike P. Wattjes, MD, PhD; Annemieke J. Rozemuller-Kwakkel, MD, PhD; Axel Petzold, MD, PhD; Joep Killestein, MD, PhD
ImportanceImportance Recent reports on chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids (CLIPPERS) suggest that patients who have a relapse ...
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JAMA Neurol. Published online May 06, 2013. doi:10.1001/jamaneurol.2013.2016
Original Contribution | May 6, 2013 
Genetic Analysis of Inherited Leukodystrophies:  Genotype-Phenotype Correlations in the CSF1R Gene
Rita Guerreiro, PhD; Eleanna Kara, MD, MSc; Isabelle Le Ber, MD, PhD; Jose Bras, PhD; Jonathan D. Rohrer, MD; Ricardo Taipa, MD; Tammaryn Lashley, PhD; Céline Dupuits, BS; Nicole Gurunlian, MS; Fanny Mochel, MD, PhD; Jason D. Warren, MD, PhD; Didier Hannequin, MD; Frédéric Sedel, MD, PhD; Christel Depienne, PhD; Agnès Camuzat, BS; Véronique Golfier, MD; Foucaud Du Boisguéheneuc, MD; Lucia Schottlaender, MD; Nick C. Fox, MD; Jonathan Beck, PhD; Simon Mead, MD; Martin N. Rossor, MD; John Hardy, PhD; Tamas Revesz, MD; Alexis Brice, MD; Henry Houlden, MD
Includes: Supplemental Content
ImportanceImportance The leukodystrophies comprise a clinically and genetically heterogeneous group of progressive hereditary neurological disorders mainly affecting the myelin in the central ...
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JAMA Neurol. Published online May 06, 2013. doi:10.1001/jamaneurol.2013.698
Observation | April 29, 2013 
A Novel OPA3 Mutation Revealed by Exome Sequencing:  An Example of Reverse Phenotyping
Beenish Arif, MPhil; Kishore R. Kumar, MBBS, FRACP; Philip Seibler, PhD; Franca Vulinovic, MS; Amara Fatima, MS; Susen Winkler, BS; Gudrun Nürnberg, MSc; Holger Thiele, PhD; Peter Nürnberg, PhD; Ahmad Zeeshan Jamil, MBBS, MCPS, FCPS, FRCS; Anne Brüggemann, MD; Ghazanfar Abbas, MBBS; Christine Klein, MD; Sadaf Naz, PhD; Katja Lohmann, PhD
Includes: Supplemental Content
ImportanceImportance We sought to unravel the genetic cause in a consanguineous Pakistani family with a complex neurological phenotype.ObservationsObservations Neurological and ophthalmological examination, ...
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JAMA Neurol. Published online April 29, 2013. doi:10.1001/jamaneurol.2013.1174
Viewpoint | April 29, 2013 
DNA Aβ42 Vaccination as Possible Alternative Immunotherapy for Alzheimer Disease
Roger N. Rosenberg, MD; Doris Lambracht-Washington, PhD
Immunotherapy for Alzheimer disease was advanced in reports1- 2 showing that the use of Aβ42 peptide vaccination in a transgenic mouse model ...
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JAMA Neurol. Published online April 29, 2013. doi:10.1001/jamaneurol.2013.1502
Original Contribution | April 29, 2013 
New Subtype of Spinocerebellar Ataxia With Altered Vertical Eye Movements Mapping to Chromosome 1p32
Carmen Serrano-Munuera, MD; Marc Corral-Juan, BSc; Giovanni Stevanin, PhD; Hector San Nicolás, BSc; Carles Roig, MD, PhD; Jordi Corral, BSc; Berta Campos, PhD; Laura de Jorge, BSc; Carlos Morcillo-Suárez, PhD; Arcadi Navarro, PhD; Sylvie Forlani, MD, PhD; Alexandra Durr, MD, PhD; Jaime Kulisevsky, MD, PhD; Alexis Brice, MD, PhD; Ivelisse Sánchez, PhD; Victor Volpini, MD, PhD; Antoni Matilla-Dueñas, PhD
Includes: Supplemental Content
ImportanceImportance To provide clinical and genetic diagnoses for patients' conditions, it is important to identify and characterize the different subtypes of spinocerebellar ...
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JAMA Neurol. Published online April 29, 2013. doi:10.1001/jamaneurol.2013.2311
Observation | April 29, 2013 
Clinical Application of Whole-Exome Sequencing:  A Novel Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay Sequence Variation in a Child With Ataxia
Wendy K. M. Liew, MBChB, MRCPCH; Tawfeg Ben-Omran, MD, FRCPC, FCCMG; Basil T. Darras, MD; Sanjay P. Prabhu, MBBS, MRCPCH, FRCR; Darryl C. De Vivo, MD; Matteo Vatta, PhD; Yaping Yang, PhD; Christine M. Eng, MD; Wendy K. Chung, MD, PhD
ImportanceImportance Ataxia in children is a diagnostic challenge. Besides the more common acquired causes of ataxia, there are more than 50 inherited ...
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JAMA Neurol. Published online April 29, 2013. doi:10.1001/jamaneurol.2013.247
Observation | April 22, 2013 
Progranulin Mutations as Risk Factors for Alzheimer Disease
David C. Perry, MD; Manja Lehmann, PhD; Jennifer S. Yokoyama, PhD; Anna Karydas, BA; Jason JiYong Lee, BS; Giovanni Coppola, MD; Lea T. Grinberg, MD, PhD; Dan Geschwind, MD, PhD; William W. Seeley, MD; Bruce L. Miller, MD; Howard Rosen, MD; Gil Rabinovici, MD
ImportanceImportance Mutations in the progranulin gene are known to cause diverse clinical syndromes, all attributed to frontotemporal lobar degeneration. We describe 2 ...
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JAMA Neurol. Published online April 22, 2013. doi:10.1001/2013.jamaneurol.393
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

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