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    10918 results match your criteria Annals of neurology[Journal]

    1 OF 219

    Sensation, mechanoreceptor and nerve fiber function after nerve regeneration.
    Ann Neurol 2017 Nov 20. Epub 2017 Nov 20.
    Integra LifeSciences, Plainsboro, NJ, 08536, USA.
    Objective: Sensation is essential for recovery after peripheral nerve injury. However, the relationship between sensory modalities and function of regenerated fibers is uncertain. We have investigated the relationships between touch threshold, tactile gnosis and mechanoreceptor and sensory fiber function after nerve regeneration. Read More

    Natural History of Infantile-Onset Spinal Muscular Atrophy.
    Ann Neurol 2017 Nov 17. Epub 2017 Nov 17.
    Department of Neurology, The Ohio State University Wexner Medical Center, Columbus, OH.
    Objective: Infantile-onset spinal muscular atrophy (SMA) is the most common genetic cause of infant mortality, typically resulting in death prior to age 2. Clinical trials in this population require an understanding of disease progression and identification of meaningful biomarkers to hasten therapeutic development and predict outcomes.

    Methods: A longitudinal, multi-center, prospective natural history study enrolled 26 SMA infants, and 27 control infants less than six months of age. Read More

    Mitochondrial DNA changes in pedunculopontine cholinergic neurons in Parkinson's.
    Ann Neurol 2017 Nov 17. Epub 2017 Nov 17.
    Division of Brain Sciences, Faculty of Medicine, Hammersmith Hospital Campus, Imperial College London, London, United Kingdom.
    In Parkinson's disease (PD), mitochondrial dysfunction associates with nigral dopaminergic neuronal loss. Cholinergic neuronal loss co-occurs, particularly within a brainstem structure, the pedunculopontine nucleus (PPN). We isolated single cholinergic neurons from post-mortem PPNs of aged controls and PD patients. Read More

    A localized pallidal physiomarker in cervical dystonia.
    Ann Neurol 2017 Nov 11. Epub 2017 Nov 11.
    Department of Neurology, Movement Disorders and Neuromodulation Unit, Campus Charite Mitte, Charité - Universitätsmedizin Berlin, Chariteplatz 1, 10117, Berlin, Germany.
    Objective: Deep brain stimulation (DBS) allows for direct recordings of neuronal activity from the human basal ganglia. In Parkinson's disease, a disease-specific physiomarker was identified that is now used to investigate adaptive closed-loop stimulation in first studies. In dystonia such a physiomarker is missing. Read More

    A variant in PPP4R3A protects against Alzheimer-related metabolic decline.
    Ann Neurol 2017 Nov 11. Epub 2017 Nov 11.
    Department of Neurology and Neurological Sciences, FIND Lab, Stanford University, Stanford, CA.
    Objectives: A reduction in glucose metabolism in the posterior cingulate cortex (PCC) predicts conversion to Alzheimer's disease (AD) and tracks disease progression, signifying its importance in AD. We aimed to use decline in PCC glucose metabolism as a proxy for the development and progression of AD to discover common genetic variants associated with disease vulnerability.

    Methods: We performed a genome-wide association study (GWAS) of decline in PCC [(18) F] FDG PET measured in Alzheimer's Disease Neuroimaging Initiative (ADNI) participants (n=606). Read More

    Heterogenous migraine aura symptoms correlate with visual cortex fMRI responses.
    Ann Neurol 2017 Nov 11. Epub 2017 Nov 11.
    Danish Headache Center and Department of Neurology, Rigshospitalet Glostrup, Faculty of Health and Medical Sciences, University of Copenhagen, Glostrup, DK, 2600, Denmark.
    Objective: Migraine aura is sparsely studied due to the highly challenging task of capturing patients during aura. Cortical spreading depression (CSD) is likely the underlying phenomenon of aura. The possible correlation between the multifaceted phenomenology of aura symptoms and the effects of CSD on the brain has not been ascertained. Read More

    Reforming the Taxonomy in Disorders of Consciousness.
    Ann Neurol 2017 Nov 1. Epub 2017 Nov 1.
    The Brain and Mind Institute, University of Western Ontario, London, Ontario, Canada.
    This paper examines the serious shortcomings that characterize the current taxonomy of post-comatose disorders of consciousness (DoC), and it provides guidelines for how an improved DoC taxonomy might be developed. In particular, it is argued that behavioural criteria for the application of DoC categories should be supplemented with brain-based criteria (e.g. Read More

    A clinical predictive score for postoperative myasthenic crisis.
    Ann Neurol 2017 Nov 10;82(5):841-849. Epub 2017 Nov 10.
    Department of Neurology, Graduate School of Medicine, Chiba University, Chiba.
    Objective: Myasthenia gravis (MG) is an autoimmune disease mostly caused by autoantibodies against acetylcholine receptor associated with thymus abnormalities. Thymectomy has been proven to be an efficacious treatment for patients with MG, but postoperative myasthenic crisis often occurs and is a major complication. We aimed to develop and validate a simple scoring system based on clinical characteristics in the preoperative status to predict the risk of postoperative myasthenic crisis. Read More

    Microglial dysfunction as a key pathological change in adrenomyeloneuropathy.
    Ann Neurol 2017 Nov 11;82(5):813-827. Epub 2017 Nov 11.
    Department of Neurology, Massachusetts General Hospital, Harvard Medical School, Boston, MA.
    Objective: Mutations in ABCD1 cause the neurodegenerative disease, adrenoleukodystrophy, which manifests as the spinal cord axonopathy adrenomyeloneuropathy (AMN) in nearly all males surviving into adulthood. Microglial dysfunction has long been implicated in pathogenesis of brain disease, but its role in the spinal cord is unclear.

    Methods: We assessed spinal cord microglia in humans and mice with AMN and investigated the role of ABCD1 in microglial activity toward neuronal phagocytosis in cell culture. Read More

    Stimulation of the mesencephalic locomotor region for gait recovery after stroke.
    Ann Neurol 2017 Nov 11;82(5):828-840. Epub 2017 Nov 11.
    Department of Neurology, University Hospital Würzburg, Würzburg, Germany.
    Objective: One-third of all stroke survivors are unable to walk, even after intensive physiotherapy. Thus, other concepts to restore walking are needed. Because electrical stimulation of the mesencephalic locomotor region (MLR) is known to elicit gait movements, this area might be a promising target for restorative neurostimulation in stroke patients with gait disability. Read More

    A recessive ataxia diagnosis algorithm for the next generation sequencing era.
    Ann Neurol 2017 Oct 23. Epub 2017 Oct 23.
    Department of Neurology, Hautepierre Hospital, University Hospitals of Strasbourg, Strasbourg, France.
    Objective: Differential diagnosis of autosomal recessive cerebellar ataxias can be challenging. A ranking algorithm named RADIAL that predicts the molecular diagnosis based on the clinical phenotype of a patient has been developed to guide genetic testing and to align genetic findings with the clinical context.

    Methods: An algorithm that follows clinical practice, including patient history, clinical, magnetic resonance imaging, electromyography, and biomarker features, was developed following a review of the literature on 67 autosomal recessive cerebellar ataxias and personal clinical experience. Read More

    Molecular-based diagnosis of multiple sclerosis and its progressive stage.
    Ann Neurol 2017 Nov;82(5):795-812
    Neuroimmunological Diseases Unit, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD.
    Objective: Biomarkers aid diagnosis, allow inexpensive screening of therapies, and guide selection of patient-specific therapeutic regimens in most internal medicine disciplines. In contrast, neurology lacks validated measurements of the physiological status, or dysfunction(s) of cells of the central nervous system (CNS). Accordingly, patients with chronic neurological diseases are often treated with a single disease-modifying therapy without understanding patient-specific drivers of disability. Read More

    Does smoking impact dopamine neuronal loss in de novo Parkinson disease?
    Ann Neurol 2017 Nov 31;82(5):850-854. Epub 2017 Oct 31.
    Department of Neurology, Yonsei University College of Medicine, Seoul, South Korea.
    This study analyzed data from dopamine transporter (DAT) positron emission tomographic scans of 282 male patients with de novo Parkinson disease to investigate whether smoking impacts striatal dopamine neuronal degeneration. Mean DAT activity in the posterior (p = 0.016) and ventral putamen (p = 0. Read More

    Stereoelectroencephalography and surgical outcome in polymicrogyria-related epilepsy: A multicentric study.
    Ann Neurol 2017 Nov 11;82(5):781-794. Epub 2017 Nov 11.
    Research Center for Automatic Control of Nancy (CRAN), University of Lorraine, CNRS, UMR 7039, Vandoeuvre, France.
    Objective: We aimed to (1) assess the concordance between various polymicrogyria (PMG) types and the associated epileptogenic zone (EZ), as defined by stereoelectroencephalography (SEEG), and (2) determine the postsurgical seizure outcome in PMG-related drug-resistant epilepsy.

    Methods: We retrospectively analyzed 58 cases: 49 had SEEG and 39 corticectomy or hemispherotomy.

    Results: Mean age at SEEG or surgery was 28. Read More

    Effect of sensory and motor connectivity on hand function in pediatric hemiplegia.
    Ann Neurol 2017 Nov 1;82(5):766-780. Epub 2017 Nov 1.
    Burke Medical Research Institute, White Plains, NY.
    Objective: We tested the hypothesis that somatosensory system injury would more strongly affect movement than motor system injury in children with unilateral cerebral palsy (USCP). This hypothesis was based on how somatosensory and corticospinal circuits adapt to injury during development; whereas the motor system can maintain connections to the impaired hand from the uninjured hemisphere, this does not occur in the somatosensory system. As a corollary, cortical injury strongly impairs sensory function, so we hypothesized that cortical lesions would impair hand function more than subcortical lesions. Read More

    Oral Anticoagulation and Functional Outcome after Intracerebral Hemorrhage.
    Ann Neurol 2017 Nov 31;82(5):755-765. Epub 2017 Oct 31.
    Department of Neurology, Yale University School of Medicine, New Haven, CT.
    Objective: Oral anticoagulation treatment (OAT) resumption is a therapeutic dilemma in intracerebral hemorrhage (ICH) care, particularly for lobar hemorrhages related to amyloid angiopathy. We sought to determine whether OAT resumption after ICH is associated with long-term outcome, accounting for ICH location (ie, lobar vs nonlobar).

    Methods: We meta-analyzed individual patient data from: (1) the multicenter RETRACE study (n = 542), (2) a U. Read More

    Imaging spinal cord atrophy in progressive myelopathies: HTLV-I-associated neurological disease (HAM/TSP) and multiple sclerosis (MS).
    Ann Neurol 2017 Nov 8;82(5):719-728. Epub 2017 Nov 8.
    Viral Immunology Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health (NIH), Bethesda, MD.
    Objective: Previous work measures spinal cord thinning in chronic progressive myelopathies, including human T-lymphotropic virus 1 (HTLV-1)-associated myelopathy/tropical spastic paraparesis (HAM/TSP) and multiple sclerosis (MS). Quantitative measurements of spinal cord atrophy are important in fully characterizing these and other spinal cord diseases. We aimed to investigate patterns of spinal cord atrophy and correlations with clinical markers. Read More

    Traumatic brain injury in the prodromal period of Parkinson's disease: A large epidemiological study using medicare data.
    Ann Neurol 2017 Nov 31;82(5):744-754. Epub 2017 Oct 31.
    Washington University School of Medicine, Department of Neurology, St. Louis, MO.
    Objective: Studies suggest a greater risk of Parkinson's disease (PD) after traumatic brain injury (TBI), but it is possible that the risk of TBI is greater in the prodromal period of PD. We aimed to examine the time-to-TBI in PD patients in their prodromal period compared to population-based controls.

    Methods: We identified 89,790 incident PD cases and 118,095 comparable controls aged > 65 years in 2009 using Medicare claims data. Read More

    Age, vascular health, and Alzheimer disease biomarkers in an elderly sample.
    Ann Neurol 2017 Nov 26;82(5):706-718. Epub 2017 Oct 26.
    Department of Radiology, Mayo Clinic, Rochester, MN.
    Objective: To investigate the associations between age, vascular health, and Alzheimer disease (AD) imaging biomarkers in an elderly sample.

    Methods: We identified 430 individuals along the cognitive continuum aged >60 years with amyloid positron emission tomography (PET), tau PET, and magnetic resonance imaging (MRI) scans from the population-based Mayo Clinic Study of Aging. A subset of 329 individuals had fluorodeoxyglucose (FDG) PET. Read More

    Peripheral nerve involvement in multiple sclerosis: Demonstration by magnetic resonance neurography.
    Ann Neurol 2017 Nov 26;82(5):676-685. Epub 2017 Oct 26.
    Department of Neuroradiology, Heidelberg University Hospital, Heidelberg, Germany.
    Objective: To detect and quantify peripheral nerve lesions in multiple sclerosis (MS) by magnetic resonance neurography (MRN).

    Methods: Thirty-six patients diagnosed with MS based on the 2010 McDonald criteria (34 with the relapsing-remitting form, 2 with clinically isolated syndrome) with and without disease-modifying treatment were compared to 35 healthy age-/sex-matched volunteers. All patients underwent detailed neurological and electrophysiological examinations. Read More

    Prediction of phenotypic severity in mucopolysaccharidosis type IIIA.
    Ann Neurol 2017 Nov 26;82(5):686-696. Epub 2017 Oct 26.
    Department of Pediatric Metabolic Diseases, Emma Children's Hospital and Amsterdam Lysosome Center "Sphinx," Academic Medical Center, University of Amsterdam.
    Objective: Mucopolysaccharidosis IIIA or Sanfilippo disease type A is a progressive neurodegenerative disorder presenting in early childhood, caused by an inherited deficiency of the lysosomal hydrolase sulfamidase. New missense mutations, for which genotype-phenotype correlations are currently unknown, are frequently reported, hampering early prediction of phenotypic severity and efficacy assessment of new disease-modifying treatments. We aimed to design a method to determine phenotypic severity early in the disease course. Read More

    Stroke-induced chronic systolic dysfunction driven by sympathetic overactivity.
    Ann Neurol 2017 Nov 6;82(5):729-743. Epub 2017 Nov 6.
    Department of Neurology, University Hospital Würzburg, Würzburg, Germany.
    Objective: Cardiac diseases are established risk factors for ischemic stroke incidence and severity. Conversely, there is increasing evidence that brain ischemia can cause cardiac dysfunction. The mechanisms underlying this neurogenic heart disease are incompletely understood. Read More

    To do or not to do? plasma exchange and timing of steroid administration in progressive multifocal leukoencephalopathy.
    Ann Neurol 2017 Nov 31;82(5):697-705. Epub 2017 Oct 31.
    Multiple Sclerosis Centre, Spedali Civili, Montichiari, Brescia, Italy.
    Objective: To retrospectively analyze the effect of plasma exchange (PLEX; yes = PLEX(+) , no = PLEX(-) ) and steroids administration timing (prophylactically [proST] or therapeutically [therST]) on the longitudinal clinical course of patients with natalizumab-related progressive multifocal leukoencephalopathy (PML) and full-blown immune reconstitution inflammatory syndrome (PML-IRIS).

    Methods: Clinical and radiological data of 42 Italian patients with PML were analyzed. Patient's data are available until 12 months after PML diagnosis. Read More

    Serum tau and neurological outcome in cardiac arrest.
    Ann Neurol 2017 Nov 2;82(5):665-675. Epub 2017 Nov 2.
    Department of Clinical Sciences, Neurology, Lund University, Skåne University Hospital, Lund, Sweden.
    Objective: To test serum tau as a predictor of neurological outcome after cardiac arrest.

    Methods: We measured the neuronal protein tau in serum at 24, 48, and 72 hours after cardiac arrest in 689 patients in the prospective international Target Temperature Management trial. The main outcome was poor neurological outcome, defined as Cerebral Performance Categories 3-5 at 6 months. Read More

    Pooled analysis of the HLA-DRB1 by smoking interaction in Parkinson disease.
    Ann Neurol 2017 Nov 26;82(5):655-664. Epub 2017 Oct 26.
    Universite Paris-Saclay, Univ. Paris-Sud, UVSQ, CESP, INSERM, Villejuif, France.
    Objective: Inflammatory response plays an important role in Parkinson disease (PD). Previous studies have reported an association between human leukocyte antigen (HLA)-DRB1 and the risk of PD. There has also been growing interest in investigating whether inflammation-related genes interact with environmental factors such as smoking to influence PD risk. Read More

    (18) F-flortaucipir tau positron emission tomography distinguishes established progressive supranuclear palsy from controls and Parkinson disease: A multicenter study.
    Ann Neurol 2017 Oct;82(4):622-634
    Memory and Aging Center, University of California, San Francisco, San Francisco, CA.
    Objective: (18) F-flortaucipir (formerly (18) F-AV1451 or (18) F-T807) binds to neurofibrillary tangles in Alzheimer disease, but tissue studies assessing binding to tau aggregates in progressive supranuclear palsy (PSP) have yielded mixed results. We compared in vivo (18) F-flortaucipir uptake in patients meeting clinical research criteria for PSP (n = 33) to normal controls (n = 46) and patients meeting criteria for Parkinson disease (PD; n = 26).

    Methods: Participants underwent magnetic resonance imaging and positron emission tomography for amyloid-β ((11) C-PiB or (18) F-florbetapir) and tau ((18) F-flortaucipir). Read More

    Docosahexaenoic acid is a beneficial replacement treatment for spinocerebellar ataxia 38.
    Ann Neurol 2017 Oct 22;82(4):615-621. Epub 2017 Oct 22.
    Neurology Unit, Department of Clinical and Experimental Sciences, University of Brescia, Brescia.
    Objective: Spinocerebellar ataxia 38 (SCA38) is caused by mutations in the ELOVL5 gene, which encodes an elongase involved in the synthesis of polyunsaturated fatty acids, including docosahexaenoic acid (DHA). As a consequence, DHA is significantly reduced in the serum of SCA38 subjects. In the present study, we evaluated the safety of DHA supplementation, its efficacy for clinical symptoms, and changes of brain functional imaging in SCA38 patients. Read More

    Polygenic hazard scores in preclinical Alzheimer disease.
    Ann Neurol 2017 Sep;82(3):484-488
    Neuroradiology Section, Department of Radiology and Biomedical Imaging, University of California, San Francisco, San Francisco, CA.
    Identifying asymptomatic older individuals at elevated risk for developing Alzheimer disease (AD) is of clinical importance. Among 1,081 asymptomatic older adults, a recently validated polygenic hazard score (PHS) significantly predicted time to AD dementia and steeper longitudinal cognitive decline, even after controlling for APOE ɛ4 carrier status. Older individuals in the highest PHS percentiles showed the highest AD incidence rates. Read More

    Dendritic spines provide cognitive resilience against Alzheimer's disease.
    Ann Neurol 2017 Oct 22;82(4):602-614. Epub 2017 Oct 22.
    Center for Neurodegeneration and Experimental Therapeutics.
    Objective: Neuroimaging and other biomarker assays suggest that the pathological processes of Alzheimer's disease (AD) begin years prior to clinical dementia onset. However, some 30 to 50% of older individuals who harbor AD pathology do not become symptomatic in their lifetime. It is hypothesized that such individuals exhibit cognitive resilience that protects against AD dementia. Read More

    Bicycling suppresses abnormal beta synchrony in the Parkinsonian basal ganglia.
    Ann Neurol 2017 Oct 10;82(4):592-601. Epub 2017 Oct 10.
    Institute of Clinical Neuroscience and Medical Psychology, Medical Faculty, Heinrich Heine University Düsseldorf, Düsseldorf, Germany.
    Objective: Freezing of gait is a poorly understood symptom of Parkinson disease, and can severely disrupt the locomotion of affected patients. However, bicycling ability remains surprisingly unaffected in most patients suffering from freezing, suggesting functional differences in the motor network. The purpose of this study was to characterize and contrast the oscillatory dynamics underlying bicycling and walking in the basal ganglia. Read More

    Deconstructing normal pressure hydrocephalus: Ventriculomegaly as early sign of neurodegeneration.
    Ann Neurol 2017 Oct 4;82(4):503-513. Epub 2017 Oct 4.
    Movement Disorders Clinic and the Edmond J. Safra Program in Parkinson's Disease, University Health Network, University of Toronto, Toronto, ON, Canada.
    Idiopathic normal pressure hydrocephalus (NPH) remains both oversuspected on clinical grounds and underconfirmed when based on immediate and sustained response to cerebrospinal fluid diversion. Poor long-term postshunt benefits and findings of neurodegenerative pathology in most patients with adequate follow-up suggest that hydrocephalic disorders appearing in late adulthood may often result from initially unapparent parenchymal abnormalities. We critically review the NPH literature, highlighting the near universal lack of blinding and controls, absence of specific clinical, imaging, or pathological features, and ongoing dependence for diagnostic confirmation on variable cutoffs of gait response to bedside fluid-drainage testing. Read More

    DNAJC12 and dopa-responsive nonprogressive parkinsonism.
    Ann Neurol 2017 Oct 11;82(4):640-646. Epub 2017 Oct 11.
    Department of Biomedical Sciences, Humanitas University, Pieve Emanuele, Milan, Italy.
    Biallelic DNAJC12 mutations were described in children with hyperphenylalaninemia, neurodevelopmental delay, and dystonia. We identified DNAJC12 homozygous null variants (c.187A>T;p. Read More

    Brain-heart interactions reveal consciousness in noncommunicating patients.
    Ann Neurol 2017 Oct 11;82(4):578-591. Epub 2017 Oct 11.
    Brain and Spine Institute, Paris, France.
    Objective: We here aimed at characterizing heart-brain interactions in patients with disorders of consciousness. We tested how this information impacts data-driven classification between unresponsive and minimally conscious patients.

    Methods: A cohort of 127 patients in vegetative state/unresponsive wakefulness syndrome (VS/UWS; n = 70) and minimally conscious state (MCS; n = 57) were presented with the local-global auditory oddball paradigm, which distinguishes 2 levels of processing: short-term deviation of local auditory regularities and global long-term rule violations. Read More

    Mutations of KIF14 cause primary microcephaly by impairing cytokinesis.
    Ann Neurol 2017 Oct 14;82(4):562-577. Epub 2017 Oct 14.
    Cologne Center for Genomics, University of Cologne, Cologne, Germany.
    Objective: Autosomal recessive primary microcephaly (MCPH) is a rare condition characterized by a reduced cerebral cortex accompanied with intellectual disability. Mutations in 17 genes have been shown to cause this phenotype. Recently, mutations in CIT, encoding CRIK (citron rho-interacting kinase)-a component of the central spindle matrix-were added. Read More

    Alcohol improves cerebellar learning deficit in myoclonus-dystonia: A clinical and electrophysiological investigation.
    Ann Neurol 2017 Oct 25;82(4):543-553. Epub 2017 Sep 25.
    Institute of Neurogenetics, University of Lübeck, Lübeck, Germany.
    Objective: To characterize neurophysiological subcortical abnormalities in myoclonus-dystonia and their modulation by alcohol administration.

    Methods: Cerebellar associative learning and basal ganglia-brainstem interaction were investigated in 17 myoclonus-dystonia patients with epsilon-sarcoglycan (SGCE) gene mutation and 21 age- and sex-matched healthy controls by means of classical eyeblink conditioning and blink reflex recovery cycle before and after alcohol intake resulting in a breath alcohol concentration of 0.08% (0. Read More

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