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  • Blood Pressure Goals and Clinical Outcomes after Successful Endovascular Therapy: A Multicenter Study
    Ann. Neurol. (IF 9.496) Pub Date : 2020-04-03
    Mohammad Anadani; Adam S. Arthur; Georgios Tsivgoulis; Kit N. Simpson; Ali Alawieh; Yser Orabi; Nitin Goyal; Andrei V. Alexandrov; Ilko L. Maier; Marios‐Nikos Psychogios; Jan Liman; Daniel Brinton; Christa B. Swisher; Shreyash Shah; Ovais Inamullah; Salah Keyrouz; Akash P. Kansagra; Michelle Allen; James A. Giles; Stacey Q. Wolfe; Kyle M. Fargen; Benjamin Gory; Pierre De Marini; Peter Kan; Fábio A

    Elevated systolic blood pressure (SBP) after successful revascularization (SR) via endovascular therapy (EVT) is a known predictor of poor outcome. However, the optimal SBP goal following EVT is still unknown. Our objective was to compare functional and safety outcomes between different SBP goals after EVT with SR.

    更新日期:2020-04-03
  • Age‐related cognitive decline is indicative of neuropathology
    Ann. Neurol. (IF 9.496) Pub Date : 2020-04-02
    Rachel Buckley; Alvaro Pascual‐Leone

    The extension of the human lifespan has not translated into a parallel extension of a healthy lifespan (or healthspan). Cognitive impairment and dementia are the most common diagnoses that impact the healthspan as we age.

    更新日期:2020-04-03
  • Left prefrontal impact links subthalamic stimulation with depressive symptoms
    Ann. Neurol. (IF 9.496) Pub Date : 2020-04-02
    Friederike Irmen; Andreas Horn; Philip Mosley; Alistair Perry; Jan Niklas Petry‐Schmelzer; Haidar S. Dafsari; Michael Barbe; Veerle Visser‐Vandewalle; Gerd‐Helge Schneider; Ningfei Li; Dorothee Kübler; Gregor Wenzel; Andrea Kühn

    Subthalamic nucleus deep brain stimulation (STN‐DBS) in Parkinson's Disease (PD) not only stimulates focal target structures but also affects distributed brain networks. The impact this network modulation has on non‐motor DBS effects is not well characterized. By focusing on the affective domain, we systematically investigate the impact of electrode placement and associated structural connectivity

    更新日期:2020-04-03
  • Neurosurgical Intervention for Supratentorial Intracerebral Hemorrhage
    Ann. Neurol. (IF 9.496) Pub Date : 2020-04-02
    Lotte Sondag; Floris HBM Schreuder; Jeroen D Boogaarts; Maroeska M Rovers; W Peter Vandertop; Ruben Dammers; Catharina JM Klijn;

    The effect of surgical treatment for supratentorial spontaneous intracerebral hemorrhage and whether it is modified by key baseline characteristics and timing remains uncertain.

    更新日期:2020-04-03
  • Extra‐axial inflammatory signal in parameninges in migraine with visual aura
    Ann. Neurol. (IF 9.496) Pub Date : 2020-04-01
    Nouchine Hadjikhani; Daniel S. Albrecht; Caterina Mainero; Eri Ichijo; Noreen Ward; Cristina Granziera; Nicole R. Zürcher; Oluwaseun Akeju; Guillaume Bonnier; Julie Price; Jacob M. Hooker; Vitaly Napadow; Matthias Nahrendorf; Marco L. Loggia; Michael A. Moskowitz

    Cortical spreading depression (CSD) underlies the neurobiology of migraine with aura (MWA).

    更新日期:2020-04-03
  • Post‐traumatic stress disorder is associated with further increased Parkinson's disease risk in veterans with traumatic brain injury
    Ann. Neurol. (IF 9.496) Pub Date : 2020-03-30
    Donna L. White; Mark E. Kunik; Hong Yu; Helen L. Lin; Peter A. Richardson; Suzanne Moore; Aliya I. Sarwar; Laura Marsh; Ricardo E. Jorge

    Determining if traumatic brain injury (TBI) and posttraumatic stress disorder (PTSD) are risk factors for Parkinson's disease (PD). This constitutes a research priority for the Veterans Administration (VA) with implications for screening policy and prevention.

    更新日期:2020-03-31
  • Human‐Specific Transcriptome of Ventral and Dorsal Midbrain Dopamine Neurons
    Ann. Neurol. (IF 9.496) Pub Date : 2020-03-30
    Jimena Monzón‐Sandoval; Ilaria Poggiolini; Tobias Ilmer; Richard Wade‐Martins; Caleb Webber; Laura Parkkinen

    Neuronal loss in the substantia nigra pars compacta (SNpc) in Parkinson disease (PD) is not uniform, as dopamine neurons from the ventral tier are lost more rapidly than those of the dorsal tier. Identifying the intrinsic differences that account for this differential vulnerability may provide a key for developing new treatments for PD.

    更新日期:2020-03-30
  • Different mismatch concepts for MRI‐guided thrombolysis in unknown onset stroke
    Ann. Neurol. (IF 9.496) Pub Date : 2020-03-30
    Lauranne Scheldeman; Anke Wouters; Florent Boutitie; Patrick Dupont; Soren Christensen; Bastian Cheng; Martin Ebinger; Matthias Endres; Jochen B. Fiebach; Christian Gerloff; Keith W. Muir; Norbert Nighoghossian; Salvador Pedraza; Claus Z. Simonsen; Vincent Thijs; Götz Thomalla; Robin Lemmens;

    To explore the prevalence of the perfusion‐weighted imaging (PWI) ‐ diffusion‐weighted imaging (DWI) mismatch and response to intravenous thrombolysis in the WAKE‐UP trial.

    更新日期:2020-03-30
  • Polygenic Multiple Sclerosis Risk and Population‐Based Childhood Brain Imaging
    Ann. Neurol. (IF 9.496) Pub Date : 2020-03-27
    C. Louk de Mol; Philip R. Jansen; Ryan L. Muetzel; Maria J. Knol; Hieab H. Adams; Vincent W. Jaddoe; Meike W. Vernooij; Rogier Q. Hintzen; Tonya J. White; Rinze F. Neuteboom

    Multiple sclerosis (MS) is a neurological disease with a substantial genetic component and immune‐mediated neurodegeneration. Patients with MS show structural brain differences relative to individuals without MS, including smaller regional volumes and alterations in white matter (WM) microstructure. Whether genetic risk for MS is associated with brain structure during early neurodevelopment remains

    更新日期:2020-03-27
  • Mean oxygen saturation during sleep is related to specific brain atrophy pattern
    Ann. Neurol. (IF 9.496) Pub Date : 2020-03-27
    Nicola Andrea Marchi; Cristina Ramponi; Camila Hirotsu; José Haba‐Rubio; Antoine Lutti; Martin Preisig; Pedro Marques‐Vidal; Peter Vollenweider; Ferath Kherif; Raphael Heinzer; Bogdan Draganski

    There is much controversy about the neurobiological mechanisms underlying the effects of sleep‐disordered breathing on the brain. The aim of this study was to investigate the association between markers of sleep‐related hypoxemia and brain anatomy.

    更新日期:2020-03-27
  • ATPase domain AFG3L2 mutations alter OPA1 processing and cause Optic Neuropathy
    Ann. Neurol. (IF 9.496) Pub Date : 2020-03-26
    Leonardo Caporali; Stefania Magri; Andrea Legati; Valentina Del Dotto; Francesca Tagliavini; Francesca Balistreri; Alessia Nasca; Chiara La Morgia; Michele Carbonelli; Maria Lucia Valentino; Eleonora Lamantea; Silvia Baratta; Ludger Schöls; Rebecca Schüle; Piero Barboni; Maria Lucia Cascavilla; Alessandra Maresca; Mariantonietta Capristo; Anna Ardissone; Davide Pareyson; Gabriella Cammarata; Lisa Melzi;

    Dominant optic atrophy (DOA) is the most common inherited optic neuropathy with a prevalence of 1:12,000 to 1:25,000. OPA1 mutations are found in 70% of DOA patients, with a significant number remaining undiagnosed.

    更新日期:2020-03-27
  • Antiepileptic drug teratogenicity and de novo genetic variation load
    Ann. Neurol. (IF 9.496) Pub Date : 2020-03-25
    Piero Perucca; Alison Anderson; Dana Jazayeri; Alison Hitchcock; Janet Graham; Marian Todaro; Torbjörn Tomson; Dina Battino; Emilio Perucca; Meritxell Martinez Ferri; Anne Rochtus; Lieven Lagae; Maria Paola Canevini; Elena Zambrelli; Ellen Campbell; Bobby P.C. Koeleman; Ingrid E. Scheffer; Samuel F. Berkovic; Patrick Kwan; Sanjay M. Sisodiya; David B. Goldstein; Slavé Petrovski; John Craig; Frank J

    The mechanisms by which antiepileptic drugs (AEDs) cause birth defects (BDs) are unknown. Data suggest that AED‐induced BDs may result from a genome‐wide increase of de novo variants in the embryo, a mechanism which we investigated.

    更新日期:2020-03-27
  • A prospective study of acute blood‐based biomarkers for sport‐related concussion
    Ann. Neurol. (IF 9.496) Pub Date : 2020-03-25
    Timothy B. Meier; Daniel L. Huber; Luisa Bohorquez‐Montoya; Morgan E. Nitta; Jonathan Savitz; T. Kent Teague; Jeffrey J. Bazarian; Ronald L. Hayes; Lindsay D. Nelson; Michael A. McCrea

    Prospectively characterize changes in serum proteins following sport‐related concussion and determine if candidate biomarkers discriminate concussed athletes from controls and are associated with duration of symptoms following concussion.

    更新日期:2020-03-27
  • Predicting Recovery and Outcome After Pediatric Stroke: Results from the International Pediatric Stroke Study
    Ann. Neurol. (IF 9.496) Pub Date : 2020-03-25
    Ryan J. Felling; Mubeen F. Rafay; Timothy J. Bernard; Jessica L. Carpenter; Nomazulu Dlamini; Sahar M. A. Hassanein; Lori C. Jordan; Michael J. Noetzel; Michael J. Rivkin; Kevin A. Shapiro; Mahmoud Slim; Gabrielle de Veber;

    To characterize predictors of recovery and outcome following pediatric arterial ischemic stroke, hypothesizing that age influences recovery after stroke.

    更新日期:2020-03-26
  • Alcohol drinking and ALS: an instrumental variable causal inference
    Ann. Neurol. (IF 9.496) Pub Date : 2020-03-20
    Xinghao Yu; Ting Wang; Yiming Chen; Ziyuan Shen; Yixing Gao; Lishun Xiao; Junnian Zheng; Ping Zeng

    Observational studies showed alcohol drinking behaviors may be associated with the risk of ALS, whereas contradictory findings emerged and whether such association is causal is unclear. We here investigate the causal relationship between alcohol consumption and ALS. By leveraging instruments from large‐scale genome‐wide association studies, we performed a comprehensive Mendelian randomization analysis

    更新日期:2020-03-21
  • Drebrin autoantibodies in patients with seizures and suspected encephalitis
    Ann. Neurol. (IF 9.496) Pub Date : 2020-03-20
    Julika Pitsch; Delara Kamalizade; Anna Braun; Julia C. Kuehn; Polina E. Gulakova; Theodor Rueber; Gert Lubec; Dirk Dietrich; Randi von Wrede; Christoph Helmstaedter; Rainer Surges; Christian E. Elger; Elke Hattingen; Hartmut Vatter; Susanne Schoch; Albert J. Becker

    Assess occurrence of the dendritic spine scaffolding protein Drebrin as pathophysiologically relevant autoantibody target in patients with recurrent seizures and suspected encephalitis as leading symptoms.

    更新日期:2020-03-21
  • Neurophysiological signatures of motor impairment in patients with Rett syndrome.
    Ann. Neurol. (IF 9.496) Pub Date : 2020-03-04
    Pia Bernardo,Stuart Cobb,Antonietta Coppola,Leo Tomasevic,Vincenzo Di Lazzaro,Carmela Bravaccio,Fiore Manganelli,Raffaele Dubbioso

    OBJECTIVE Rett syndrome (RTT) is an X-linked dominant neurodevelopmental disorder due to pathogenic mutations in the MECP2 gene. Motor impairment constitutes the core diagnostic feature of RTT. Preclinical studies have consistently demonstrated alteration of excitation/inhibition (E/I) balance and aberrant synaptic plasticity at cortical level. Herein we aimed at understanding neurobiological mechanisms

    更新日期:2020-03-19
  • Normative Cognitive Decline in Old Age.
    Ann. Neurol. (IF 9.496) Pub Date : 2020-03-06
    Robert S Wilson,Tianhao Wang,Lei Yu,David A Bennett,Patricia A Boyle

    OBJECTIVE To characterize trajectories of normative cognitive aging METHODS: Older persons without dementia at study enrollment (n = 1,010) had annual cognitive testing for up to 24 years (mean = 9.9 years, SD = 5.0), died, and underwent a neuropathologic examination to quantify 9 postmortem markers of common neurodegenerative and cerebrovascular conditions. To accommodate the heterogeneity in cognitive

    更新日期:2020-03-16
  • Robust markers and sample sizes for multi-centre trials of Huntington's disease.
    Ann. Neurol. (IF 9.496) Pub Date : 2020-02-27
    Peter A Wijeratne,Eileanoir B Johnson,Arman Eshaghi,Leon Aksman,Sarah Gregory,Hans J Johnson,Govinda R Poudel,Amrita Mohan,Cristina Sampaio,Nellie Georgiou-Karistianis,Jane S Paulsen,Sarah J Tabrizi,Rachael I Scahill,,Daniel C Alexander

    OBJECTIVE The identification of sensitive biomarkers is essential to validate therapeutics for Huntington's disease (HD). We directly compare structural imaging markers across the largest collective imaging HD dataset, to identify a set of imaging markers robust to multi-centre variation and to derive upper estimates on sample sizes for clinical trials in HD. METHODS We used one post-processing pipeline

    更新日期:2020-03-16
  • Connectome-based propagation model in amyotrophic lateral sclerosis.
    Ann. Neurol. (IF 9.496) Pub Date : 2020-02-18
    Jil M Meier,Hannelore K van der Burgh,Abram D Nitert,Peter Bede,Siemon C de Lange,Orla Hardiman,Leonard H van den Berg,Martijn P van den Heuvel

    OBJECTIVE Clinical trials in amyotrophic lateral sclerosis (ALS) continue to rely on survival or functional scales as endpoints, despite the emergence of quantitative biomarkers. Neuroimaging-based biomarkers in ALS have been shown to detect ALS-associated pathology in vivo, although anatomical patterns of disease spread are poorly characterized. The objective of this study is to simulate disease propagation

    更新日期:2020-03-12
  • Severe neurological toxicity of immune checkpoint inhibitors: growing spectrum.
    Ann. Neurol. (IF 9.496) Pub Date : 2020-02-22
    Divyanshu Dubey,William S David,Kerry L Reynolds,Donald F Chute,Nathan F Clement,Justine V Cohen,Donald P Lawrence,Meghan J Mooradian,Ryan J Sullivan,Amanda C Guidon

    Expanding use of immune-checkpoint inhibitors (ICIs) underscores the importance of accurate diagnosis and timely management of neurological immune-related adverse events (irAE-N). We evaluate the real-world frequency, phenotypes, co-occurring immune-related adverse events (irAEs), and long-term outcomes of severe, grade III-V irAE-N at a tertiary-care center over 6 years. We analyze how our experience

    更新日期:2020-03-10
  • Cancer Risk for Fingolimod, Natalizumab, and Rituximab in MS Patients.
    Ann. Neurol. (IF 9.496) Pub Date : 2020-02-13
    Peter Alping,Johan Askling,Joachim Burman,Katharina Fink,Anna Fogdell-Hahn,Martin Gunnarsson,Jan Hillert,Annette Langer-Gould,Jan Lycke,Petra Nilsson,Jonatan Salzer,Anders Svenningsson,Magnus Vrethem,Tomas Olsson,Fredrik Piehl,Thomas Frisell

    OBJECTIVE Novel, highly effective disease-modifying therapies have revolutionized multiple sclerosis (MS) care. However, evidence from large comparative studies on important safety outcomes, such as cancer, is still lacking. METHODS In this nationwide register-based cohort study, we linked data from the Swedish MS register to the Swedish Cancer Register and other national healthcare and census registers

    更新日期:2020-03-09
  • Dopaminergic Depletion, β-Amyloid Burden, and Cognition in Lewy Body Disease.
    Ann. Neurol. (IF 9.496) Pub Date : 2020-02-20
    Han Soo Yoo,Sangwon Lee,Seok Jong Chung,Yang Hyun Lee,Phil Hyu Lee,Young H Sohn,Seungyeoun Lee,Mijin Yun,Byoung Seok Ye

    OBJECTIVE We aimed to determine the association between striatal dopaminergic depletion, cerebral β-amyloid deposition, and cognitive dysfunction in Lewy body disease (LBD). METHODS This cross-sectional study recruited 48 LBD patients (30 with dementia, 18 with mild cognitive impairment) and 15 control subjects from a university-based hospital. We measured the striatal dopamine transporter (DAT) activity

    更新日期:2020-03-04
  • Validation of Rapid Magnetic Resonance Myelin Imaging in Multiple Sclerosis.
    Ann. Neurol. (IF 9.496) Pub Date : 2020-02-14
    Russell Ouellette,Gabriel Mangeat,Ildiko Polyak,Marcel Warntjes,Yngve Forslin,Åsa Bergendal,Michael Plattén,Martin Uppman,Constantina Andrada Treaba,Julien Cohen-Adad,Fredrik Piehl,Maria Kristoffersen Wiberg,Sten Fredrikson,Caterina Mainero,Tobias Granberg

    OBJECTIVE Magnetic resonance imaging (MRI) is essential for multiple sclerosis diagnostics but is conventionally not specific to demyelination. Myelin imaging is often hampered by long scanning times, complex postprocessing, or lack of clinical approval. This study aimed to assess the specificity, robustness, and clinical value of Rapid Estimation of Myelin for Diagnostic Imaging, a new myelin imaging

    更新日期:2020-03-02
  • Insufficient sleep, EEG activation, and seizure risk: Re-evaluating the evidence.
    Ann. Neurol. (IF 9.496) Pub Date : 2020-03-02
    Kyle C Rossi,Jalyoung Joe,Monica Makhija,Daniel M Goldenholz

    Insufficient sleep has been considered a seizure trigger in people with epilepsy for thousands of years. Here, we reviewed the evidence upon which this axiomatic association might be predicated. After evaluating evidence suggesting insufficient sleep as an EEG activator, we systematically reviewed the literature for longitudinal studies measuring the effect of insufficient sleep on seizure risk. Ultimately

    更新日期:2020-03-02
  • Ischemic Stroke despite Oral Anticoagulant Therapy in Patients with Atrial Fibrillation.
    Ann. Neurol. (IF 9.496) Pub Date : 2020-02-12
    David J Seiffge,Gian Marco De Marchis,Masatoshi Koga,Maurizio Paciaroni,Duncan Wilson,Manuel Cappellari,Kosmas Macha Md,Georgios Tsivgoulis,Gareth Ambler,Shoji Arihiro,Leo H Bonati,Bruno Bonetti,Bernd Kallmünzer,Keith W Muir,Paolo Bovi,Henrik Gensicke,Manabu Inoue,Stefan Schwab,Shadi Yaghi,Martin M Brown,Philippe Lyrer,Masahito Takagi,Monica Acciarrese,Hans Rolf Jager,Alexandros A Polymeris,Kazunori

    OBJECTIVE It is not known whether patients with atrial fibrillation (AF) with ischemic stroke despite oral anticoagulant therapy are at increased risk for further recurrent strokes or how ongoing secondary prevention should be managed. METHODS We conducted an individual patient data pooled analysis of 7 prospective cohort studies that recruited patients with AF and recent cerebral ischemia. We compared

    更新日期:2020-02-27
  • Sleep Deprivation Affects Tau Phosphorylation in Human Cerebrospinal Fluid.
    Ann. Neurol. (IF 9.496) Pub Date : 2020-02-14
    Nicolas R Barthélemy,Haiyan Liu,William Lu,Paul T Kotzbauer,Randall J Bateman,Brendan P Lucey

    Tau hyperphosphorylation is an early step in tau-mediated neurodegeneration and is associated with intracellular aggregation of tau as neurofibrillary tangles, neuronal and synaptic loss, and eventual cognitive dysfunction in Alzheimer disease. Sleep loss increases the cerebrospinal fluid concentration of amyloid-β and tau. Using mass spectrometry, we measured tau and phosphorylated tau concentrations

    更新日期:2020-02-27
  • N‐Methyl‐D‐Aspartate Receptor Antibodies in Autoimmune Encephalopathy Alter Oligodendrocyte Function
    Ann. Neurol. (IF 9.496) Pub Date : 2020-02-24
    Carlos Matute; Ana Palma; María Paz Serrano‐Regal; Estibaliz Maudes; Sumanta Barman; María Victoria Sánchez‐Gómez; María Domercq; Norbert Goebels; Josep Dalmau

    Antibodies against neuronal N‐methyl‐D‐aspartate receptors (NMDARs) in patients with anti‐NMDAR encephalitis alter neuronal synaptic function and plasticity, but the effects on other cells of the nervous system are unknown.

    更新日期:2020-02-24
  • Toll-like Receptor 4 Signaling in Neurons Enhances Calcium-Permeable α-Amino-3-Hydroxy-5-Methyl-4-Isoxazolepropionic Acid Receptor Currents and Drives Post-Traumatic Epileptogenesis.
    Ann. Neurol. (IF 9.496) Pub Date : 2020-02-07
    Akshata A Korgaonkar,Ying Li,Dipika Sekhar,Deepak Subramanian,Jenieve Guevarra,Bogumila Swietek,Alexandra Pallottie,Sukwinder Singh,Kruthi Kella,Stella Elkabes,Vijayalakshmi Santhakumar
    更新日期:2020-02-24
  • Longitudinal Positron Emission Tomography of Dopamine Synthesis in Subjects with GBA1 Mutations.
    Ann. Neurol. (IF 9.496) Pub Date : 2020-02-06
    Grisel Lopez,Daniel P Eisenberg,Michael D Gregory,Angela M Ianni,Shannon E Grogans,Joseph C Masdeu,Jenny Kim,Catherine Groden,Ellen Sidransky,Karen F Berman

    Mutations in GBA1, the gene mutated in Gaucher disease, are a common genetic risk factor for Parkinson disease, although the penetrance is low. We performed [18 F]-fluorodopa positron emission tomography studies of 57 homozygous and heterozygous GBA1 mutation carriers (15 with parkinsonism) and 98 controls looking for early indications of dopamine loss using voxelwise analyses to identify group differences

    更新日期:2020-02-23
  • Mendelian Randomization Study of Obesity and Cerebrovascular Disease.
    Ann. Neurol. (IF 9.496) Pub Date : 2020-01-24
    Sandro Marini,Jordi Merino,Bailey E Montgomery,Rainer Malik,Catherine L Sudlow,Martin Dichgans,Jose C Florez,Jonathan Rosand,Dipender Gill,Christopher D Anderson,

    OBJECTIVE To systematically investigate causal relationships between obesity and cerebrovascular disease and the extent to which hypertension and hyperglycemia mediate the effect of obesity on cerebrovascular disease. METHODS We used summary statistics from genome-wide association studies for body mass index (BMI), waist-to-hip ratio (WHR), and multiple cerebrovascular disease phenotypes. We explored

    更新日期:2020-02-19
  • Visual Dysfunction of the Superior Colliculus in De Novo Parkinsonian Patients.
    Ann. Neurol. (IF 9.496) Pub Date : 2020-02-06
    Elena Moro,Emmanuelle Bellot,Sara Meoni,Pierre Pelissier,Ruxandra Hera,Michel Dojat,Veronique Coizet,

    OBJECTIVE The dual hit hypothesis about the pathogenesis of Parkinson disease (PD) suggests that the brainstem is a convergent area for the propagation of pathological α-synuclein from the periphery to the brain. Although brainstem structures are likely to be affected early in the course of the disease, detailed information regarding specific brainstem regions is lacking. The aim of our study was to

    更新日期:2020-02-19
  • Coffee Consumption and Risk of Stroke: A Mendelian Randomization Study.
    Ann. Neurol. (IF 9.496) Pub Date : 2020-02-07
    Yu Qian,Ding Ye,Huijun Huang,David J H Wu,Yaxuan Zhuang,Xia Jiang,Yingying Mao

    OBJECTIVE Observational epidemiological studies have reported a relationship between coffee intake and risk of stroke. However, evidence for this association is inconsistent, and it remains uncertain whether the association is causal or due to confounding or reverse causality. To clarify this relationship, we adopted a Mendelian randomization (MR) approach to evaluate the effects of coffee consumption

    更新日期:2020-02-19
  • Longitudinal Neuroimaging over 30 Days: Temporal Characteristics of Migraine.
    Ann. Neurol. (IF 9.496) Pub Date : 2020-02-07
    Laura H Schulte,Jan Mehnert,Arne May

    OBJECTIVE Although migraine is defined by the headache and headache-associated symptoms, the true beginning of a migraine attack lies in the premonitory phase. To understand the generation of attacks, one needs to investigate the phase before headache starts. The premonitory phase of migraine is characterized by a well-described complex of symptoms. Its duration, however, is not clearly defined, and

    更新日期:2020-02-18
  • The genotypic and phenotypic spectrum of BICD2 variants in spinal muscular atrophy.
    Ann. Neurol. (IF 9.496) Pub Date : 2020-02-14
    Daniel C Koboldt,Megan A Waldrop,Richard K Wilson,Kevin M Flanigan

    The bicaudal D cargo adaptor 2 (BICD2) gene encodes a conserved cargo adapter protein required for dynein-mediated transport. Inherited and de novo variants in BICD2 cause spinal muscular atrophy, lower extremity dominant 2 (SMALED2), and a subset have recently been reported to cause severe, often lethal disease. However, a true genotype-phenotype correlation for BICD2 has not been performed, and cases

    更新日期:2020-02-14
  • Fine-Mapping of SNCA in Rapid Eye Movement Sleep Behavior Disorder and Overt Synucleinopathies.
    Ann. Neurol. (IF 9.496) Pub Date : 2020-01-24
    Lynne Krohn,Richard Y J Wu,Karl Heilbron,Jennifer A Ruskey,Sandra B Laurent,Cornelis Blauwendraat,Armaghan Alam,Isabelle Arnulf,Michele T M Hu,Yves Dauvilliers,Birgit Högl,Mathias Toft,Kari Anne Bjørnarå,Ambra Stefani,Evi Holzknecht,Christelle Charley Monaca,Beatriz Abril,Giuseppe Plazzi,Elena Antelmi,Luigi Ferini-Strambi,Peter Young,Anna Heidbreder,Valérie Cochen De Cock,Brit Mollenhauer,Friederike

    OBJECTIVE Rapid eye movement sleep behavior disorder (RBD) is a prodromal synucleinopathy, as >80% will eventually convert to overt synucleinopathy. We performed an in-depth analysis of the SNCA locus to identify RBD-specific risk variants. METHODS Full sequencing and genotyping of SNCA was performed in isolated/idiopathic RBD (iRBD, n = 1,076), Parkinson disease (PD, n = 1,013), dementia with Lewy

    更新日期:2020-02-12
  • Independent Functional Outcomes after Prolonged Coma following Cardiac Arrest: A Mechanistic Hypothesis.
    Ann. Neurol. (IF 9.496) Pub Date : 2020-01-29
    Peter B Forgacs,Orrin Devinsky,Nicholas D Schiff

    OBJECTIVE Survivors of prolonged (>2 weeks) post-cardiac arrest (CA) coma are expected to remain permanently disabled. We aimed to investigate 3 outlier patients who ultimately achieved independent functional outcomes after prolonged post-CA coma to identify electroencephalographic (EEG) markers of their recovery potential. For validation purposes, we also aimed to evaluate these markers in an independent

    更新日期:2020-02-11
  • Novel Recessive TNNT1 Congenital Core-Rod Myopathy in French Canadians.
    Ann. Neurol. (IF 9.496) Pub Date : 2020-01-22
    David Pellerin,Asli Aykanat,Benjamin Ellezam,Emily C Troiano,Jason Karamchandani,Marie-Josée Dicaire,Marc Petitclerc,Rebecca Robertson,Xavier Allard-Chamard,Denis Brunet,Chamindra G Konersman,Jean Mathieu,Jodi Warman Chardon,Vandana A Gupta,Alan H Beggs,Bernard Brais,Nicolas Chrestian

    OBJECTIVE Recessive null variants of the slow skeletal muscle troponin T1 (TNNT1) gene are a rare cause of nemaline myopathy that is fatal in infancy due to respiratory insufficiency. Muscle biopsy shows rods and fiber type disproportion. We report on 4 French Canadians with a novel form of recessive congenital TNNT1 core-rod myopathy. METHODS Patients underwent full clinical characterization, lower

    更新日期:2020-02-10
  • Imaging Biomarkers of Alzheimer Disease in Multiple Sclerosis.
    Ann. Neurol. (IF 9.496) Pub Date : 2020-01-22
    Burcu Zeydan,Val J Lowe,Ross R Reichard,Scott A Przybelski,Timothy G Lesnick,Christopher G Schwarz,Matthew L Senjem,Jeffrey L Gunter,Joseph E Parisi,Mary M Machulda,Prashanthi Vemuri,Michelle M Mielke,David S Knopman,Ronald C Petersen,Clifford R Jack,Orhun H Kantarci,Kejal Kantarci

    OBJECTIVE To investigate β-amyloid and tau depositions using Pittsburgh compound B (PiB) positron emission tomography (PET) and AV1451 tau PET imaging in aging multiple sclerosis (MS) patients. METHODS Patients with MS (n = 16) and controls (n = 80) matched for age, sex, and APOE ε4 status from the population-based Mayo Clinic Study of Aging who underwent PiB PET imaging were studied. Of these individuals

    更新日期:2020-02-10
  • CHIT1 at Diagnosis Reflects Long-Term Multiple Sclerosis Disease Activity.
    Ann. Neurol. (IF 9.496) Pub Date : 2020-01-29
    Emanuela Oldoni,Ide Smets,Klara Mallants,Marijne Vandebergh,Lies Van Horebeek,Koen Poesen,Patrick Dupont,Bénédicte Dubois,An Goris

    OBJECTIVE Evidence for a role of microglia in the pathogenesis of multiple sclerosis (MS) is growing. We investigated association of microglial markers at time of diagnostic lumbar puncture (LP) with different aspects of disease activity (relapses, disability, magnetic resonance imaging parameters) up to 6 years later in a cohort of 143 patients. METHODS In cerebrospinal fluid (CSF), we measured 3

    更新日期:2020-02-10
  • Ethnic and Socioeconomic Associations with Multiple Sclerosis Risk.
    Ann. Neurol. (IF 9.496) Pub Date : 2020-01-23
    Ruth Dobson,Mark Jitlal,Charles R Marshall,Alastair J Noyce,John Robson,Jack Cuzick,Gavin Giovannoni

    OBJECTIVE Epidemiological research in multiple sclerosis (MS) has mainly been performed in socioeconomically and ethnically limited populations; influences on MS risk have not been studied in prospectively collected non-White populations. We set out to study the influence of previously described MS risk factors in an ethnically diverse population. METHODS A nested case-control study was created using

    更新日期:2020-02-10
  • Natural History of Adult Patients with GM2 Gangliosidosis.
    Ann. Neurol. (IF 9.496) Pub Date : 2020-01-29
    Marion Masingue,Louis Dufour,Timothée Lenglet,Lisa Saleille,Cyril Goizet,Xavier Ayrignac,Fabienne Ory-Magne,Magali Barth,Foudil Lamari,Daniele Mandia,Catherine Caillaud,Yann Nadjar

    OBJECTIVE GM2 gangliosidoses are lysosomal diseases due to biallelic mutations in the HEXA (Tay-Sachs disease [TS]) or HEXB (Sandhoff disease [SD]) genes, with subsequent low hexosaminidase(s) activity. Most patients have childhood onset, but some experience the first symptoms during adolescence/adulthood. This study aims to clarify the natural history of adult patients with GM2 gangliosidosis. METHODS

    更新日期:2020-02-07
  • Scn8a Antisense Oligonucleotide Is Protective in Mouse Models of SCN8A Encephalopathy and Dravet Syndrome.
    Ann. Neurol. (IF 9.496) Pub Date : 2020-01-14
    Guy M Lenk,Paymaan Jafar-Nejad,Sophie F Hill,Lucas D Huffman,Corrine E Smolen,Jacy L Wagnon,Hayley Petit,Wenxi Yu,Julie Ziobro,Kritika Bhatia,Jack Parent,Roman J Giger,Frank Rigo,Miriam H Meisler

    OBJECTIVE SCN8A encephalopathy is a developmental and epileptic encephalopathy (DEE) caused by de novo gain-of-function mutations of sodium channel Nav 1.6 that result in neuronal hyperactivity. Affected individuals exhibit early onset drug-resistant seizures, developmental delay, and cognitive impairment. This study was carried out to determine whether reducing the abundance of the Scn8a transcript

    更新日期:2020-02-07
  • Synaptic Changes in Parkinson Disease Assessed with in vivo Imaging.
    Ann. Neurol. (IF 9.496) Pub Date : 2020-01-17
    David Matuskey,Sule Tinaz,Kyle C Wilcox,Mika Naganawa,Takuya Toyonaga,Mark Dias,Shannan Henry,Brian Pittman,Jim Ropchan,Nabeel Nabulsi,Ivonne Suridjan,Robert A Comley,Yiyun Huang,Sjoerd J Finnema,Richard E Carson

    OBJECTIVE Parkinson disease is characterized by motor and nonmotor symptoms, reduced striatal dopamine signaling, and loss of dopamine neurons in the substantia nigra. It is now known that the pathological process in Parkinson disease may begin decades before the clinical diagnosis and include a variety of neuronal alterations in addition to the dopamine system. METHODS This study examined the density

    更新日期:2020-02-06
  • Daridorexant, a New Dual Orexin Receptor Antagonist to Treat Insomnia Disorder.
    Ann. Neurol. (IF 9.496) Pub Date : 2020-01-17
    Yves Dauvilliers,Gary Zammit,Ingo Fietze,David Mayleben,Dalma Seboek Kinter,Scott Pain,Jan Hedner

    OBJECTIVE To evaluate the dose-response relationship of daridorexant, a new dual orexin receptor antagonist, on sleep variables in subjects with insomnia disorder. METHODS Adults (≤64 years) with insomnia disorder were randomized (1:1:1:1:1:1) to receive daily oral placebo, daridorexant (5, 10, 25, or 50mg), or 10mg zolpidem for 30 days. The primary efficacy outcome was the change in wake time after

    更新日期:2020-02-06
  • Impairment of the Glymphatic Pathway and Putative Meningeal Lymphatic Vessels in the Aging Human.
    Ann. Neurol. (IF 9.496) Pub Date : 2020-01-09
    Ying Zhou,Jinsong Cai,Wenhua Zhang,Xiaoxian Gong,Shenqiang Yan,Kemeng Zhang,Zhongyu Luo,Jianzhong Sun,Quan Jiang,Min Lou

    OBJECTIVE Aging is a major risk factor for numerous neurological disorders, and the mechanisms underlying brain aging remain elusive. Recent animal studies demonstrated a tight relationship between impairment of the glymphatic pathway, meningeal lymphatic vessels, and aging. However, the relationship in the human brain remains uncertain. METHODS In this observational cohort study, patients underwent

    更新日期:2020-01-31
  • Clinical and Molecular Aspects of Senataxin Mutations in Amyotrophic Lateral Sclerosis 4.
    Ann. Neurol. (IF 9.496) Pub Date : 2020-01-19
    Christopher Grunseich,Aneesh Patankar,Joshua Amaya,Jason A Watts,Dongjun Li,Prisila Ramirez,Alice B Schindler,Kenneth H Fischbeck,Vivian G Cheung

    OBJECTIVE To determine the clinical and molecular features in patients with amyotrophic lateral sclerosis 4 (ALS4) due to mutations in the senataxin (SETX) gene and to develop tools for evaluating SETX variants. METHODS Our study involved 32 patients, including 31 with mutation in SETX at c.1166 T>C (p.Leu389Ser) and 1 with mutation at c.1153 G>A (p.Glu385Lys). Clinical characterization of the patients

    更新日期:2020-01-29
  • Human Cerebrospinal Fluid Monoclonal LGI1 Autoantibodies Increase Neuronal Excitability.
    Ann. Neurol. (IF 9.496) Pub Date : 2020-01-27
    Hans-Christian Kornau,Jakob Kreye,Alexander Stumpf,Yuko Fukata,Daniel Parthier,Rosanna P Sammons,Barbara Imbrosci,Sarah Kurpjuweit,Alexander B Kowski,Masaki Fukata,Harald Prüss,Dietmar Schmitz

    OBJECTIVE Leucine-rich glioma-inactivated 1 (LGI1) encephalitis is the second most common antibody-mediated encephalopathy, but insight into the intrathecal B-cell autoimmune response, including clonal relationships, isotype distribution, frequency, and pathogenic effects of single LGI1 antibodies, has remained limited. METHODS We cloned, expressed, and tested antibodies from 90 antibody-secreting

    更新日期:2020-01-27
  • Neuroinflammatory markers associate with cognitive decline after major surgery: Findings of an explorative study.
    Ann. Neurol. (IF 9.496) Pub Date : 2020-01-25
    Mattias Danielson,Andreas Wiklund,Fredrik Granath,Kaj Blennow,Souren Mkrtchian,Bengt Nellgård,Jonatan Oras,Malin Jonsson Fagerlund,Anna Granström,Anna Schening,Lars S Rasmussen,Helena Erlandsson Harris,Henrik Zetterberg,Sven-Erik Ricksten,Lars I Eriksson

    OBJECTIVE Long-term cognitive decline is an adverse outcome after major surgery associated with increased risk for mortality and morbidity. We studied the cerebrospinal fluid (CSF) and serum biochemical inflammatory response to a standardized orthopedic surgical procedure and the possible association with long-term changes in cognitive function. We hypothesized that the CSF inflammatory response pattern

    更新日期:2020-01-26
  • Predicting Upper Limb Motor Impairment Recovery after Stroke: A Mixture Model.
    Ann. Neurol. (IF 9.496) Pub Date : 2020-01-25
    Rick van der Vliet,Ruud W Selles,Eleni-Rosalina Andrinopoulou,Rinske Nijland,Gerard M Ribbers,Maarten A Frens,Carel Meskers,Gert Kwakkel

    OBJECTIVE Spontaneous recovery is an important determinant of upper extremity recovery after stroke and has been described by the 70% proportional recovery rule for the Fugl-Meyer motor upper extremity (FM-UE) scale. However, this rule is criticized for overestimating the predictability of FM-UE recovery. Our objectives were to develop a longitudinal mixture model of FM-UE recovery, identify FM-UE

    更新日期:2020-01-26
  • Classification Accuracy of Transcranial Magnetic Stimulation for the Diagnosis of Neurodegenerative Dementias.
    Ann. Neurol. (IF 9.496) Pub Date : 2020-01-10
    Alberto Benussi,Mario Grassi,Fernando Palluzzi,Giacomo Koch,Vincenzo Di Lazzaro,Raffaele Nardone,Valentina Cantoni,Valentina Dell'Era,Enrico Premi,Alessandro Martorana,Francesco di Lorenzo,Sonia Bonnì,Federico Ranieri,Fioravante Capone,Gabriella Musumeci,Maria Sofia Cotelli,Alessandro Padovani,Barbara Borroni

    OBJECTIVE Transcranial magnetic stimulation (TMS) has been suggested as a reliable, noninvasive, and inexpensive tool for the diagnosis of neurodegenerative dementias. In this study, we assessed the classification performance of TMS parameters in the differential diagnosis of common neurodegenerative disorders, including Alzheimer disease (AD), dementia with Lewy bodies (DLB), and frontotemporal dementia

    更新日期:2020-01-23
  • Intravenous Immunomodulatory Nanoparticle Treatment for Traumatic Brain Injury.
    Ann. Neurol. (IF 9.496) Pub Date : 2020-01-22
    Sripadh Sharma,Igal Ifergan,Jonathan E Kurz,Robert A Linsenmeier,Dan Xu,John G Cooper,Stephen D Miller,John A Kessler

    OBJECTIVE There are currently no definitive disease-modifying therapies for traumatic brain injury (TBI). In this study, we present a strong therapeutic candidate for TBI, immunomodulatory nanoparticles (IMPs), which ablate a specific subset of hematogenous monocytes (hMos). We hypothesized that prevention of infiltration of these cells into brain acutely after TBI would attenuate secondary damage

    更新日期:2020-01-23
  • Antisense Oligonucleotide Reverses Leukodystrophy in Canavan Disease Mice.
    Ann. Neurol. (IF 9.496) Pub Date : 2020-01-22
    Vanessa Hull,Yan Wang,Travis Burns,Sheng Zhang,Sarah Sternbach,Jennifer McDonough,Fuzheng Guo,David Pleasure

    Marked elevation in the brain concentration of N-acetyl-L-aspartate (NAA) is a characteristic feature of Canavan disease, a vacuolar leukodystrophy resulting from deficiency of the oligodendroglial NAA-cleaving enzyme aspartoacylase. We now demonstrate that inhibiting NAA synthesis by intracisternal administration of a locked nucleic acid antisense oligonucleotide to young-adult aspartoacylase-deficient

    更新日期:2020-01-23
  • Optimizing Patient Selection for Endovascular Treatment in Acute Ischemic Stroke (SELECT): A Prospective, Multicenter Cohort Study of Imaging Selection.
    Ann. Neurol. (IF 9.496) Pub Date : 2020-01-09
    Amrou Sarraj,Ameer E Hassan,James Grotta,Clark Sitton,Gary Cutter,Chunyan Cai,Peng R Chen,Bita Imam,Deep Pujara,Ashish Arora,Sujan Reddy,Kaushik Parsha,Roy F Riascos,Nirav Vora,Michael Abraham,Randall Edgell,Frank Hellinger,Diogo C Haussen,Spiros Blackburn,Haris Kamal,Andrew D Barreto,Sheryl Martin-Schild,Maarten Lansberg,Rishi Gupta,Sean Savitz,Gregory W Albers

    OBJECTIVE The primary imaging modalities used to select patients for endovascular thrombectomy (EVT) are noncontrast computed tomography (CT) and CT perfusion (CTP). However, their relative utility is uncertain. We prospectively assessed CT and CTP concordance/discordance and correlated the imaging profiles on both with EVT treatment decisions and clinical outcomes. METHODS A phase 2, multicenter,

    更新日期:2020-01-22
  • Life Course Adiposity and Amyotrophic Lateral Sclerosis: A Mendelian Randomization Study.
    Ann. Neurol. (IF 9.496) Pub Date : 2020-01-21
    Linjing Zhang,Lu Tang,Tao Huang,Dongsheng Fan

    OBJECTIVE Observational studies have indicated that life course adiposity is associated with amyotrophic lateral sclerosis (ALS). However, whether such an association reflects causality remains unclear. We aimed to determine whether life course adiposity such as birth weight (BW), childhood body mass index (BMI), adult BMI, body fat percentage (BF%), and waist-to-hip ratio (WHR) have causal effects

    更新日期:2020-01-22
  • ANA Investigates: Pioneering Unbiased Diagnostics.
    Ann. Neurol. (IF 9.496) Pub Date : 2020-01-17
    Megan Richie,Samuel Pleasure,Jennifer Hurley,Adeline Goss,Michael Wilson

    更新日期:2020-01-17
  • Local Leukocyte Invasion during Hyperacute Human Ischemic Stroke.
    Ann. Neurol. (IF 9.496) Pub Date : 2020-01-03
    Alexander M Kollikowski,Michael K Schuhmann,Bernhard Nieswandt,Wolfgang Müllges,Guido Stoll,Mirko Pham

    OBJECTIVE Bridging the gap between experimental stroke and patients by ischemic blood probing during the hyperacute stage of vascular occlusion is crucial to assess the role of inflammation in human stroke and for the development of adjunct treatments beyond recanalization. METHODS We prospectively observed 151 consecutive ischemic stroke patients with embolic large vessel occlusion of the anterior

    更新日期:2020-01-16
  • Needle in a Haystack: The Common Can Inform the Rare in Restless Legs Syndrome.
    Ann. Neurol. (IF 9.496) Pub Date : 2020-01-11
    Joanne Trinh,Christine Klein

    更新日期:2020-01-11
  • Amylin as a Potential Link between Type 2 Diabetes and Alzheimer Disease.
    Ann. Neurol. (IF 9.496) Pub Date : 2020-01-09
    Florin Despa,Larry B Goldstein,Geert Jan Biessels

    更新日期:2020-01-09
  • Restoration of Somatosensory Function by Pairing Vagus Nerve Stimulation with Tactile Rehabilitation.
    Ann. Neurol. (IF 9.496) Pub Date : 2019-12-25
    Michael J Darrow,Tabarak M Mian,Miranda Torres,Zainab Haider,Tanya Danaphongse,Robert L Rennaker,Michael P Kilgard,Seth A Hays

    OBJECTIVE Sensory dysfunction is a common consequence of many forms of neurological injury, including stroke and nerve damage. Rehabilitative paradigms that incorporate sensory retraining can provide modest benefits, but the majority of patients are left with lasting sensory loss. We have developed a novel strategy that uses closed-loop vagus nerve stimulation (VNS) paired with tactile rehabilitation

    更新日期:2020-01-07
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