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    10995 results match your criteria Annals of neurology[Journal]

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    Dorsal root ganglia volume differentiate schwannomatosis and neurofibromatosis 2.
    Ann Neurol 2018 Feb 22. Epub 2018 Feb 22.
    Department of Neuroradiology, Neurological University Clinic, Heidelberg University Hospital, Im Neuenheimer Feld 400, 69120, Heidelberg, Germany.
    Schwannomatosis and neurofibromatosis type 2 are hereditary tumor syndromes and peripheral neuropathy has been reported in both. We prospectively applied in-vivo morphometric measurement of dorsal root ganglia volume in 16 schwannomatosis, 14 neurofibromatosis type 2 patients, and 26 healthy controls by MR-Neurography. Compared to healthy controls, dorsal root ganglia hypertrophy was a consistent finding in neurofibromatosis type 2 (L3: +267%, L4: +235%, L5: +241%, S1: +300% and S2: +242%, Bonferroni-adjusted p<0. Read More

    Seizures and disturbed brain potassium dynamics in the leukodystrophy MLC.
    Ann Neurol 2018 Feb 21. Epub 2018 Feb 21.
    Department of Child Neurology, Amsterdam Neuroscience, VU University Medical Center, Amsterdam, The Netherlands.
    Objective: Loss of function of the astrocyte-specific protein MLC1 leads to the childhood onset leukodystrophy "megalencephalic leukoencephalopathy with subcortical cysts" (MLC). Studies on isolated cells show a role for MLC1 in astrocyte volume regulation and suggest that disturbed brain ion and water homeostasis is central to the disease. Excitability of neuronal networks is particularly sensitive to ion and water homeostasis. Read More

    Memory Complaints, Dementia, and Neuropathology in Older Blacks and Whites.
    Ann Neurol 2018 Feb 21. Epub 2018 Feb 21.
    Rush Alzheimer's Disease Center, Rush University Medical Center, Chicago, IL.
    Objective: To determine relationships of memory complaints to cognitive function and decline, incident dementia, and neurodegenerative and other neuropathologies, as well as the population-attributable risk for dementia in older black and white persons.

    Methods: 4015 community-based persons (28% black; 74% women; mean baseline age 78 years), were enrolled in one of four longitudinal cohort studies, and another 2937 in a population-based cohort. Memory scores, assessed using two questions (5-point Likert scales) were categorized as complaints present or absent. Read More

    Mutations in SCN3A cause early infantile epileptic encephalopathy.
    Ann Neurol 2018 Feb 21. Epub 2018 Feb 21.
    Division of Neurology, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.
    Objective: Voltage-gated sodium (Na) channels underlie action potential generation and propagation and hence are central to the regulation of excitability in the nervous system. Mutations in the genes SCN1A, SCN2A, and SCN8A, encoding the Nachannel pore-forming (α) subunits Nav1.1, 1. Read More

    Dysregulation of NEUROG2 plays a key role in focal cortical dysplasia.
    Ann Neurol 2018 Feb 20. Epub 2018 Feb 20.
    Departments of Medical Genetics, University of Campinas - UNICAMP, and the Brazilian Institute of Neuroscience and Neurotechnology (BRAINN), Campinas, SP, Brazil.
    Objective: Focal cortical dysplasias (FCDs) are an important cause of drug-resistant epilepsy. In this work we aimed to investigate whether abnormal gene regulation, mediated by microRNA, could be involved in FCD type II.

    Methods: We used total RNA from the brain tissue of 16 patients with FCD type II and 28 controls. Read More

    [18F]AV-1451 tau-PET and primary progressive aphasia.
    Ann Neurol 2018 Feb 16. Epub 2018 Feb 16.
    Information Technology, and Radiology Neuroradiology, Mayo Clinic, Rochester, Minnesota, U.S.A.
    Objectives: To assess [F]AV-1451 tau-PET uptake patterns across the primary progressive aphasia (PPA) variants (logopenic, semantic and agrammatic), examine regional uptake patterns of [F]AV-1451 independent of clinical diagnosis, and compare the diagnostic utility of [F]AV-1451, [F]-fluorodeoxygluclose (FDG)-PET and MRI to differentiate the PPA variants.

    Methods: We performed statistical parametric mapping of [F]AV-1451 across 40 PPA patients (logopenic-PPA=14, semantic-PPA=13 and agrammatic-PPA=13) compared to 80 cognitively normal, PiB-negative controls, age and gender matched 2:1. Principal component analysis of regional [F]AV-1451 tau-PET SUVR was performed to understand underlying patterns of [F]AV-1451 uptake independent of clinical diagnosis. Read More

    Predicting Recovery in Acute Post-stroke Aphasia.
    Ann Neurol 2018 Feb 16. Epub 2018 Feb 16.
    Department of Communication Sciences & Disorders, University of South Carolina, Columbia, SC, USA.
    Objective: Many stroke patients show remarkable recovery of language after initial severe impairment, but it is difficult to predict which patients will show good recovery. We aimed to identify patient and lesion characteristics that together predict the best naming outcome in four studies.

    Methods: We report two longitudinal studies that identified two variables at onset that were strongly associated with good recovery of naming (the most common residual deficit in aphasia) in the first six months after stroke: damage to left posterior superior temporal gyrus (pSTG) and/or superior longitudinal fasciculus/arcuate fasciculus (SLF/AF) and selective serotonin reuptake inhibitor (SSRI) use. Read More

    Diabetic neuropathy differs between type 1 and type 2 diabetes Insights from magnetic resonance neurography.
    Ann Neurol 2018 Feb 14. Epub 2018 Feb 14.
    Department of Neuroradiology, Heidelberg University Hospital, Heidelberg, Germany.
    Objective: To visualize and quantify differences of microstructural nerve damage in distal symmetric diabetic neuropathy (DPN) between type 1 diabetes (T1D) and type 2 diabetes (T2D), and to detect correlations between neuropathic symptoms and serological risk factors.

    Methods: 3T magnetic resonance neurography of the sciatic nerve was performed in 120 patients (T1D n=35; T2D n=85) with either DPN (n=84) or no DPN (NDPN; n=36). Results were subsequently correlated with clinical, serological, and electrophysiological patient data. Read More

    Do subjects with minimal motor features have prodromal PD?
    Ann Neurol 2018 Feb 8. Epub 2018 Feb 8.
    Department of Neurological Sciences, Rush University Medical Center, Chicago, Illinois, 60612, USA.
    Background: Understanding the pathological changes underlying mild motor features of the eldery and defining a patient population with prodromal Parkinson's disease (PD) are of great clinical importance. It remains unclear, however, how to accurately and specifically diagnose prodromal PD. We examined whether older adults with minimal parkinsonian motor features have nigrostriatal degeneration and α-synuclein pathology consistent with prodromal PD. Read More

    Amygdala stimulation-induced apnea is attention and nasal-breathing dependent.
    Ann Neurol 2018 Feb 8. Epub 2018 Feb 8.
    Department of Neurology, Northwestern University Feinberg School of Medicine, 303 E. Chicago Ave., Chicago, IL, 60611.
    Objective: Evidence suggests disordered breathing is critically involved in Sudden unexplained death in epilepsy (SUDEP). To that end, evaluating structures that are activated by seizures and can activate brain regions that produce cardiorespiratory changes can further our understanding of the pathophysiology of SUDEP. Prior preclinical studies have shown that electrical stimulation of the human amygdala induces apnea, suggesting a role for the amygdala in controlling respiration. Read More

    Stereotactic Laser Amygdalohippocampotomy for Mesial Temporal Lobe Epilepsy.
    Ann Neurol 2018 Feb 8. Epub 2018 Feb 8.
    Department of Neurology, Emory University School of Medicine.
    Objective: To evaluate the outcomes one-year and longer following stereotactic laser amygdalohippocampotomy for mesial temporal lobe epilepsy in a large series of patients treated over a five-year period since introduction of this novel technique.

    Methods: Surgical outcomes of a consecutive series of fifty-eight patients with mesial temporal lobe epilepsy who underwent the surgery at our institution with at least 12-months follow-up were retrospectively evaluated. A subgroup analysis was performed comparing patients with and without mesial temporal sclerosis. Read More

    High complement levels in astrocyte-derived exosomes of Alzheimer's disease.
    Ann Neurol 2018 Feb 6. Epub 2018 Feb 6.
    Laboratory of Neurosciences, National Institute on Aging, Baltimore, MD, 21224.
    Objective: Astrocytes fulfill neuronal trophic roles normally, but are transformed in Alzheimer's disease (AD) into A1-type reactive astrocytes that may destroy neurons through unknown mechanisms.

    Methods: To investigate astrocyte inflammatory mechanisms, astrocyte-derived exosomes (ADEs) were isolated immunochemically from plasmas of AD patients and matched controls for ELISA quantification of complement proteins.

    Results: ADE levels of C1q, C4b, C3d, factor B, factor D, Bb, C3b and C5b-C9 terminal complement complex (TCC), but not mannose-binding lectin (MBL), normalized by the CD81 exosome marker were significantly higher for AD patients (n=28) than age- and gender-matched controls (all p<0. Read More

    N-methyl-D-aspartate receptor antibody production from germinal center reactions: therapeutic implications.
    Ann Neurol 2018 Feb 6. Epub 2018 Feb 6.
    Autoimmune Neurology Group, Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, UK.
    Introduction N-methyl-D-aspartate receptor (NMDAR)-antibody encephalitis is mediated by IgG-autoantibodies directed against the NR1-subunit of the NMDAR. Around 20% of patients have an underlying ovarian teratoma, and the condition responds to early immunotherapies and ovarian teratoma removal. However, despite clear therapeutic relevance, mechanisms of NR1-IgG production and the contribution of germinal center B cells to NR1-IgG levels are unknown. Read More

    Predicting clinical diagnosis in Huntington's disease: An imaging polymarker.
    Ann Neurol 2018 Feb 5. Epub 2018 Feb 5.
    The Computational, Cognitive & Clinical Neuroimaging Laboratory (C3NL), Division of Brain Sciences, Imperial College London, UK.
    Objective: Huntington's disease (HD) gene-carriers can be identified prior to clinical diagnosis; however, statistical models for predicting when overt motor symptoms will manifest are too imprecise to be useful at the level of the individual. Perfecting this prediction is integral to the search for disease modifying therapies. This study aimed to identify an imaging marker capable of reliably predicting real-life clinical diagnosis in HD. Read More

    Orthostatic Heart Rate Changes in Patients with Autonomic Failure caused by Neurodegenerative Synucleinopathies.
    Ann Neurol 2018 Feb 5. Epub 2018 Feb 5.
    Departments of Medicine and Pharmacology, Vanderbilt University Medical Center, Nashville, TN.
    Objective: Blunted tachycardia during hypotension is a characteristic feature of patients with autonomic failure, but the range has not been defined. This study reports the range of orthostatic heart rate (HR) changes in patients with autonomic failure caused by neurodegenerative synucleinopathies.

    Methods: Patients evaluated at sites of the U. Read More

    Increase of HCN current in the aberrant excitability of spinal muscular atrophy.
    Ann Neurol 2018 Feb 2. Epub 2018 Feb 2.
    Department of Neurology, National Taiwan University Hospital and National Taiwan University College of Medicine, Taipei, Taiwan.
    Objective The pathophysiology of spinal muscular atrophy (SMA) is still unclear. Methods The nerve excitability test in SMA patients and a mouse model of SMA was carried out to explore the pathophysiology of nodal and internodal currents, and quantitative PCR, Western blotting and whole-cell patch-clamp recording were used for the identified hypothesis. Results The nerve excitability test in SMA patients showed increased inward rectification in the current-threshold relationship and increased overshoot after hyperpolarizing threshold electrotonus, which indicates increased hyperpolarization-activated cyclic nucleotide-gated (HCN) current; these findings correlated with disease severity. Read More

    Activation of pial and dural macrophages and dendritic cells by CSD (67 chrs).
    Ann Neurol 2018 Feb 2. Epub 2018 Feb 2.
    Department of Anesthesia, Critical Care and Pain Medicine, Beth Israel Deaconess Medical Center, Boston, MA, 02115.
    Objective: Cortical spreading depression (CSD) has long been implicated in migraine attacks with aura. The process by which CSD, a cortical event that occurs within the blood brain barrier (BBB), results in nociceptor activation outside the BBB is likely mediated by multiple molecules and cells. The objective of this study was to determine whether CSD activates immune cells inside the BBB (pia), outside the BBB (dura), or in both, and if so, when. Read More

    Sleep and Cognitive Decline: A Prospective Non-demented Elderly Cohort Study.
    Ann Neurol 2018 Feb 2. Epub 2018 Feb 2.
    Department of Neuropsychiatry, Seoul National University Bundang Hospital, Seongnam, Korea.
    Objective: To investigate sleep disturbances that induce cognitive changes over four years in non-demented elderlies.

    Methods: Data were acquired from a nationwide, population-based, prospective cohort of Korean elderlies (2,238 normal cognition [NC] and 655 mild cognitive impairment [MCI]). At baseline and 4-year follow up assessments, sleep-related parameters (mid-sleep time, sleep duration, latency, subjective quality, efficiency and daytime dysfunction) and cognitive status were measured using Pittsburgh Sleep Quality Index and Consortium to Establish a Registry for Alzheimer's Disease Assessment, respectively. Read More

    Rivaroxaban plasma levels in acute ischemic stroke and intracerebral hemorrhage.
    Ann Neurol 2018 Feb 2. Epub 2018 Feb 2.
    Stroke Center and Department of Neurology, Department of Clinical Research, University Hospital and University of Basel, Switzerland.
    Objective: Information about Rivaroxaban plasma levels (RivLev) may guide treatment decisions in patients with acute ischemic stroke (AIS) and intracerebral hemorrhage (ICH) taking rivaroxaban.

    Methods: In a multicenter registry-based study (Novel-Oral-Anticoagulants-In-Stroke-Patients collaboration;NOACISP; of patients with stroke while taking rivaroxaban, we compared RivLev in patients with AIS and ICH. Read More

    Mutations in MICAL-1 cause autosomal dominant lateral temporal epilepsy.
    Ann Neurol 2018 Feb 2. Epub 2018 Feb 2.
    CNR- Neuroscience Institute, Section of Padua, Padova, Italy.
    Objective: Autosomal dominant lateral temporal epilepsy (ADLTE) is a genetic focal epilepsy characterized by auditory symptoms. Two genes, LGI1 and RELN, encoding secreted proteins, are implicated in the etiology of ADLTE, but half of the affected families remain genetically unsolved, and the underlying molecular mechanisms are yet to be clarified. We aimed to identify additional genes causing ADLTE to better understand the genetic basis and molecular pathway underlying this epileptic disorder. Read More

    Gamma-glutamyl transferase predicts future stroke: A Korean nationwide study.
    Ann Neurol 2018 Feb 10;83(2):375-386. Epub 2018 Feb 10.
    Department of Neurology, Seoul National University Hospital.
    Objective: Although gamma-glutamyl transferase (GGT) is generally regarded as an alternative biomarker for alcohol consumption, its independent role in vascular diseases emerged recently. However, its role in stroke remains unknown. The aim of this study is to clarify the impact of GGT on stroke in a large-sized, national, standardized population cohort in Korea. Read More

    Parkinson disease and the risk of epileptic seizures.
    Ann Neurol 2018 Feb 10;83(2):363-374. Epub 2018 Feb 10.
    Division of Clinical Neurophysiology, Department of Neurology, University Hospital Basel, Basel, Switzerland.
    Objective: To assess the association between incident Parkinson disease (PD) and subsequent incident epileptic seizures.

    Methods: We conducted a retrospective cohort study with a nested case-control analysis using data from the U.K. Read More

    Pallidal deep brain stimulation modulates cortical excitability and plasticity.
    Ann Neurol 2018 Feb;83(2):352-362
    Division of Neurology, Department of Medicine, University Health Network, Toronto, Ontario, Canada.
    Objective: Internal globus pallidus (GPi) deep brain stimulation (DBS) relieves symptoms in dystonia patients. However, the physiological effects produced by GPi DBS are not fully understood. In particular, how a single-pulse GPi DBS changes cortical circuits has never been investigated. Read More

    Expression profiling suggests microglial impairment in human immunodeficiency virus neuropathogenesis.
    Ann Neurol 2018 Feb 10;83(2):406-417. Epub 2018 Feb 10.
    Department of Neuroscience, Center for Neurovirology, Temple University School of Medicine, Philadelphia, PA.
    Objective: CD16/CD163macrophages (MΦs) and microglia accumulate in the brains of patients with human immunodeficiency virus (HIV) encephalitis (HIVE), a neuropathological correlate of the most severe form of HIV-associated neurocognitive disorders, HIV-associated dementia. Recently, we found that some parenchymal microglia in brain of HIVsubjects without encephalitis (HIV/noE) but with varying degrees of neurocognitive impairment express CD16 and CD163, even in the absence of detectable virus production. To further our understanding of microglial activation in HIV, we investigated expression of specific genes by profiling parenchymal microglia from archival brain tissue of patients with HIVE and HIV/noE, and HIVcontrols. Read More

    Neutrophil hyperactivation correlates with Alzheimer's disease progression.
    Ann Neurol 2018 Feb;83(2):387-405
    Sorbonne Universités, UPMC Univ Paris 06, INSERM, Centre de Recherche Saint-Antoine, team "Immune System, Neuroinflammation and Neurodegenerative Diseases", Hôpital Saint-Antoine, Paris, France.
    Objective: Recent studies have underlined the effect of systemic inflammation on the pathophysiology of Alzheimer's disease (AD). Neutrophils are key components of early innate immunity and contribute to uncontrolled systemic inflammation if not tightly regulated. The aim of our study was to fully characterize human circulating neutrophils at different disease stages in AD. Read More

    Metallothioneins are neuroprotective agents in lysosomal storage disorders.
    Ann Neurol 2018 Feb 15;83(2):418-432. Epub 2018 Feb 15.
    Gene Therapy Program, Dana-Farber/Boston Children's Cancer and Blood Disorders Center, Boston, MA.
    Objective: Lysosomal storage disorders (LSDs) are a broad class of inherited metabolic diseases caused by the defective activity of lysosomal enzymes. Central nervous system (CNS) manifestations are present in roughly 50% of LSD patients and represent an unmet medical need for them. We explored the therapeutic potential of metallothioneins (MTs), a newly identified family of proteins with reported neuroprotective roles, in the murine models of two LSDs with CNS involvement. Read More

    Diagnostic criteria for disorders of arousal: A video-polysomnographic assessment.
    Ann Neurol 2018 Feb 10;83(2):341-351. Epub 2018 Feb 10.
    Sleep Disorders Unit, National Reference Center for Narcolepsy and Hypersomnia, Neurology Department, Gui de Chauliac Hospital, Montpellier, France.
    Objective: To assess video-polysomnographic (vPSG) criteria and their cutoff values for the diagnosis of disorders of arousal (DOAs; sleepwalking, sleep terror).

    Methods: One hundred sixty adult patients with DOAs and 50 sex- and age-matched healthy participants underwent a clinical evaluation and vPSG assessment to quantify slow wave sleep (SWS) interruptions (SWS fragmentation index, slow/mixed and fast arousal ratios, and indexes per hour) and the associated behaviors. First, a case-control analysis was performed in 100 patients and the 50 controls to define the optimal cutoff values using receiver operating characteristic curves. Read More

    A mendelian form of neural tube defect caused by a de novo null variant in SMARCC1 in an identical twin.
    Ann Neurol 2018 Feb 9;83(2):433-436. Epub 2018 Feb 9.
    Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
    Neural tube defects (NTDs) are among the most common birth defects in humans and yet their molecular etiology remains poorly understood. NTDs are believed to result from the complex interaction of environmental factors with a multitude of genetic risk factors in a classical multifactorial disease model. Mendelian forms of NTDs in which single variants are sufficient to cause the disease are extremely rare. Read More

    Randomized trial of transcranial direct current stimulation for poststroke dysphagia.
    Ann Neurol 2018 Feb 6;83(2):328-340. Epub 2018 Feb 6.
    Department of Neurology, University Hospital Münster, Albert Schweitzer Campus 1 Münster.
    Objective: We evaluated whether transcranial direct current stimulation (tDCS) is able to enhance dysphagia rehabilitation following stroke. Besides relating clinical effects with neuroplastic changes in cortical swallowing processing, we aimed to identify factors influencing treatment success.

    Methods: In this double-blind, randomized study, 60 acute dysphagic stroke patients received contralesional anodal (1mA, 20 minutes) or sham tDCS on 4 consecutive days. Read More

    Deep gray matter volume loss drives disability worsening in multiple sclerosis.
    Ann Neurol 2018 Feb 6;83(2):210-222. Epub 2018 Feb 6.
    Queen Square Multiple Sclerosis Centre, UCL Institute of Neurology, Faculty of Brain Sciences, University College London.
    Objective: Gray matter (GM) atrophy occurs in all multiple sclerosis (MS) phenotypes. We investigated whether there is a spatiotemporal pattern of GM atrophy that is associated with faster disability accumulation in MS.

    Methods: We analyzed 3,604 brain high-resolution T1-weighted magnetic resonance imaging scans from 1,417 participants: 1,214 MS patients (253 clinically isolated syndrome [CIS], 708 relapsing-remitting [RRMS], 128 secondary-progressive [SPMS], and 125 primary-progressive [PPMS]), over an average follow-up of 2. Read More

    Terminal spreading depolarization and electrical silence in death of human cerebral cortex.
    Ann Neurol 2018 Feb 15;83(2):295-310. Epub 2018 Feb 15.
    UC Gardner Neuroscience Institute.
    Objective: Restoring the circulation is the primary goal in emergency treatment of cerebral ischemia. However, better understanding of how the brain responds to energy depletion could help predict the time available for resuscitation until irreversible damage and advance development of interventions that prolong this span. Experimentally, injury to central neurons begins only with anoxic depolarization. Read More

    Mechanistic target of rapamycin complex 1 and 2 in human temporal lobe epilepsy.
    Ann Neurol 2018 Feb 15;83(2):311-327. Epub 2018 Feb 15.
    Department of Neurology, University of Pennsylvania, Perelman School of Medicine, Philadelphia, PA.
    Objective: Temporal lobe epilepsy (TLE) is a chronic epilepsy syndrome defined by seizures and progressive neurological disabilities, including cognitive impairments, anxiety, and depression. Here, human TLE specimens were investigated focusing on the mechanistic target of rapamycin (mTOR) complex 1 (mTORC1) and complex 2 (mTORC2) activities in the brain, given that both pathways may represent unique targets for treatment.

    Methods: Surgically resected hippocampal and temporal lobe samples from therapy-resistant TLE patients were analyzed by western blotting to quantify the expression of established mTORC1 and mTORC2 activity markers and upstream or downstream signaling pathways involving the two complexes. Read More

    Cerebrospinal fluid macrophage biomarkers in amyotrophic lateral sclerosis.
    Ann Neurol 2018 Feb 9;83(2):258-268. Epub 2018 Feb 9.
    Nuffield Department of Clinical Neurosciences, University of Oxford, United Kingdom.
    Objective: The neurodegenerative disease, amyotrophic lateral sclerosis (ALS), is a heterogeneous clinical syndrome involving multiple molecular pathways. The development of biomarkers for use in therapeutic trials is a priority. We sought to use a high-throughput proteomic method to identify novel biomarkers in individual cerebrospinal fluid (CSF) samples. Read More

    Thalamic atrophy in multiple sclerosis: A magnetic resonance imaging marker of neurodegeneration throughout disease.
    Ann Neurol 2018 Feb 9;83(2):223-234. Epub 2018 Feb 9.
    Department of Neurology, University of Southern California, Los Angeles, CA.
    Objective: Thalamic volume is a candidate magnetic resonance imaging (MRI)-based marker associated with neurodegeneration to hasten development of neuroprotective treatments. Our objective is to describe the longitudinal evolution of thalamic atrophy in MS and normal aging, and to estimate sample sizes for study design.

    Methods: Six hundred one subjects (2,632 MRI scans) were analyzed. Read More

    Central vein sign differentiates Multiple Sclerosis from central nervous system inflammatory vasculopathies.
    Ann Neurol 2018 Feb 15;83(2):283-294. Epub 2018 Feb 15.
    Department of Neuroscience, Drug and Child Health, University of Florence, Florence, Italy.
    Objectives: In multiple sclerosis (MS), magnetic resonance imaging (MRI) is a sensitive tool for detecting white matter lesions, but its diagnostic specificity is still suboptimal; ambiguous cases are frequent in clinical practice. Detection of perivenular lesions in the brain (the "central vein sign") improves the pathological specificity of MS diagnosis, but comprehensive evaluation of this MRI biomarker in MS-mimicking inflammatory and/or autoimmune diseases, such as central nervous system (CNS) inflammatory vasculopathies, is lacking. In a multicenter study, we assessed the frequency of perivenular lesions in MS versus systemic autoimmune diseases with CNS involvement and primary angiitis of the CNS (PACNS). Read More

    Dysfunctional sarcomere contractility contributes to muscle weakness in ACTA1-related nemaline myopathy (NEM3).
    Ann Neurol 2018 Feb 6;83(2):269-282. Epub 2018 Feb 6.
    Department of Physiology, VU University Medical Center Amsterdam, Amsterdam, the Netherlands.
    Objective: Nemaline myopathy (NM) is one of the most common congenital nondystrophic myopathies and is characterized by muscle weakness, often from birth. Mutations in ACTA1 are a frequent cause of NM (ie, NEM3). ACTA1 encodes alpha-actin 1, the main constituent of the sarcomeric thin filament. Read More

    [F]AV-1451 clustering of entorhinal and cortical uptake in Alzheimer's disease.
    Ann Neurol 2018 Feb 6;83(2):248-257. Epub 2018 Feb 6.
    Department of Neurology, Mayo Clinic, Rochester, MN.
    Objective: To use a cluster analysis of [F]AV-1451 tau-PET data to determine how subjects with Alzheimer's disease (AD) vary in the relative involvement of the entorhinal cortex and neocortex, and determine whether relative involvement of these two regions can help explain variability in age and clinical phenotype in AD.

    Methods: We calculated [F]AV-1451 uptake in entorhinal cortex and neocortex in 62 amyloid-positive AD patients (39 typical and 23 atypical presentation). tau-PET (positron emission tomography) values were normalized to the cerebellum to create standard uptake value ratios (SUVRs). Read More

    Alternative diagnostic criteria for idiopathic hypersomnia: A 32-hour protocol.
    Ann Neurol 2018 Feb 9;83(2):235-247. Epub 2018 Feb 9.
    Sleep Disorder Unit, Narcolepsy and Hypersomnia National Reference Center, Neurology Department, Gui de Chauliac Hospital.
    Objective: To assess the diagnostic value of extended sleep duration on a controlled 32-hour bed rest protocol in idiopathic hypersomnia (IH).

    Methods: One hundred sixteen patients with high suspicion of IH (37 clear-cut IH according to multiple sleep latency test criteria and 79 probable IH), 32 with hypersomnolence associated with a comorbid disorder (non-IH), and 21 controls underwent polysomnography, modified sleep latency tests, and a 32-hour bed rest protocol. Receiver operating characteristic curves were used to find optimal total sleep time (TST) cutoff values on various periods that discriminate patients from controls. Read More

    Association of prothrombin complex concentrate administration and hematoma enlargement in non-vitamin K antagonist oral anticoagulant-related intracerebral hemorrhage.
    Ann Neurol 2018 Jan;83(1):186-196
    Department of Neurology, University of Erlangen-Nuremberg, Erlangen.
    Objective: To investigate parameters associated with hematoma enlargement in non-vitamin K antagonist oral anticoagulant (NOAC)-related intracerebral hemorrhage (ICH).

    Methods: This retrospective cohort study includes individual patient data for 190 patients with NOAC-associated ICH over a 5-year period (2011-2015) at 19 departments of neurology across Germany. Primary outcome was the association of prothrombin complex concentrate (PCC) administration with hematoma enlargement. Read More

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