385,178 results match your criteria Neurology Today[Journal]


An Application of Computational Drug Repurposing Based on Transcriptomic Signatures.

Methods Mol Biol 2019 ;1903:149-177

Bioinformatics ERA Chair, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus.

Drug repurposing is a methodology where already existing drugs are tested against diseases outside their initial usage, in order to reduce the high cost and long periods of new drug development. In silico drug repurposing further speeds up the process, by testing a large number of drugs against the biological signatures of known diseases. In this chapter, we present a step-by-step methodology of a transcriptomics-based computational drug repurposing pipeline providing a comprehensive guide to the whole procedure, from proper dataset selection to short list derivation of repurposed drugs which might act as inhibitors against the studied disease. Read More

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January 2019

The 'Neglected' Personal Neglect.

Neuropsychol Rev 2018 Dec 13. Epub 2018 Dec 13.

Faculty of Social Sciences, University of Tampere, Tampere, Finland.

A review of patients with brain injury showing personal neglect is presented. The aim is to shed light on this aspect of neglect often unresearched or only indirectly investigated, and to discuss recent findings concerning the methods used to assess personal neglect, its neural correlates and its association with the more often explored aspect of extrapersonal neglect. The review was performed using PubMed and PsychInfo databases to search for papers published in the last 123 years (until January 2018). Read More

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December 2018

Eotaxins and C-C chemokine receptor type 3 in Parkinson's disease.

Acta Neurol Belg 2018 Dec 13. Epub 2018 Dec 13.

Geriatric Care Research Center, Rafsanjan University of Medical Science, Rafsanjan, Iran.

Parkinson's disease (PD) is one of the most common neuroinflammatory disorders and inflammatory processes seem to play an important role in the pathogenesis of PD. Chemokines as inflammatory mediators, which are involved in the recruitment of leukocytes, can play a role in the pathogenesis of PD. The aim of this study was to examine the serum level of eotaxins (CCL11, CCL24, and CCL26) and the expression of C-C chemokine receptor type 3 (CCR3) in patients with PD compared with healthy subjects. Read More

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December 2018

Advances in quantitative assessment of parkinsonian motor symptoms with wearable devices.

Sci China Life Sci 2018 Dec 3. Epub 2018 Dec 3.

Department of Neurology, Fujian Institute of Geriatrics, Fujian Medical University Union Hospital, Fuzhou, 350001, China.

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December 2018

Interferon-α-induced retinopathy in chronic hepatitis C treatment: summary, considerations, and recommendations.

Graefes Arch Clin Exp Ophthalmol 2018 Dec 13. Epub 2018 Dec 13.

Department of Ophthalmology and Vision Sciences, Princess Margaret Hospital/University Health Network, University of Toronto, 610 University Avenue, Toronto, ON, M5G 2M9, Canada.

Interferons are cytokines that regulate the host's response to viral infection, particularly in the setting of the immunologic response to the hepatitis C virus (HCV). While the virus has the ability to evade the host's innate and specific immunity, exogenous interferon-α with combined ribavirin, treatments have been found to achieve a significant sustained viral response in subgroups of patients with chronic HCV. One of the major side effects of interferon-α is an ocular retinopathy characterized by flame-shaped hemorrhages and cotton wool spots visualized on funduscopic examination. Read More

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December 2018

Gradients of connectivity distance in the cerebral cortex of the macaque monkey.

Brain Struct Funct 2018 Dec 13. Epub 2018 Dec 13.

Max Planck Research Group for Neuroanatomy and Connectivity, Max Planck Institute for Human Cognitive and Brain Sciences, Leipzig, Germany.

Cortical connectivity conforms to a series of organizing principles that are common across species. Spatial proximity, similar cortical type, and similar connectional profile all constitute factors for determining the connectivity between cortical regions. We previously demonstrated another principle of connectivity that is closely related to the spatial layout of the cerebral cortex. Read More

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December 2018

Prophylactic treatment of migraine with and without aura with acetyl-DL-leucine: a case series.

J Neurol 2018 Dec 13. Epub 2018 Dec 13.

Department of Neurology, Ludwig Maximilians University, Munich, Campus Grosshadern, Marchioninistr. 15, 81377, Munich, Germany.

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December 2018

Glucose metabolic brain patterns to discriminate amyotrophic lateral sclerosis from Parkinson plus syndromes.

EJNMMI Res 2018 Dec 13;8(1):110. Epub 2018 Dec 13.

Department of Nuclear Medicine and Molecular Imaging, Division of Nuclear Medicine, KU Leuven, Herestraat 49, 3000, Leuven, Belgium.

Background: F-FDG brain PET measures metabolic changes in neurodegenerative disorders and may discriminate between different diseases even at an early stage. The objective of this study was to classify patients with amyotrophic lateral sclerosis (ALS) and Parkinson plus syndromes (PP). To this end, different approaches were evaluated using generalized linear models and corresponding glucose metabolic brain patterns. Read More

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December 2018

Novel tau fragments in cerebrospinal fluid: relation to tangle pathology and cognitive decline in Alzheimer's disease.

Acta Neuropathol 2018 Dec 13. Epub 2018 Dec 13.

Institute of Neuroscience and Physiology, Department of Psychiatry and Neurochemistry, The Sahlgrenska Academy at University of Gothenburg, Göteborgsvägen 31, House V3/SU, 43180, Mölndal, Sweden.

Tau is an axonal microtubule-binding protein. Tau pathology in brain and increased tau concentration in the cerebrospinal fluid (CSF) are hallmarks of Alzheimer's disease (AD). Most of tau in CSF is present as fragments. Read More

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December 2018

Microendoscopic discectomy (MED) for lumbar disc herniation: comparison of learning curve of the surgery and outcome with other established case studies.

J Spine Surg 2018 Sep;4(3):630-637

Global Health City, Chennai, Tamil Nadu, India.

Background: To compare the results of a series of microendoscopic discectomies done at a government medical college in South India, with other published series and to analyze the learning curve for the procedure.

Methods: Microendoscopic discectomy (MED) was performed in 40 patients. The cases were in the age group between 20-50 years (mean age, 32. Read More

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September 2018

Building a network for multicenter, prospective research of central nervous system infections in South America: Process and lessons learned.

eNeurologicalSci 2018 Dec 4;13:63-69. Epub 2018 Jul 4.

Hospital Emergencias Pediatricas, Lima, Peru.

Multicenter collaborative networks are essential for advancing research and improving clinical care for a variety of conditions. Research networks are particularly important for central nervous system infections, which remain difficult to study due to their sporadic occurrence and requirement for collection and testing of cerebrospinal fluid. Establishment of long-term research networks in resource-limited areas also facilitates diagnostic capacity building, surveillance for emerging pathogens, and provision of appropriate treatment where needed. Read More

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December 2018

Evaluating layered stigma from comorbid HIV and epilepsy among Zambian adults.

eNeurologicalSci 2018 Dec 21;13:56-62. Epub 2017 Dec 21.

Strong Epilepsy Center, Department of Neurology, University of Rochester, 265 Crittenden Blvd, CU420694, Rochester, NY 14642, USA.

Background And Purpose: Stigma hinders care for patients with neurologic illness. Layered stigma due to comorbid disease is common yet poorly characterized due to lack of instruments. Epilepsy and HIV are prototypical stigmatized conditions widespread in sub-Saharan Africa. Read More

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December 2018
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Follow-on glatiramer acetate.

eNeurologicalSci 2018 Dec 23;13:51-52. Epub 2018 Nov 23.

Synthon BV, Nijmegen, The Netherlands.

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December 2018

Stroke in the Arab World: A bibliometric analysis of research activity (2002-2016).

eNeurologicalSci 2018 Dec 22;13:40-45. Epub 2018 Nov 22.

Department of Neurology, Henri-Mondor Hospital, UPEC, Assistance Publique-Hopitaux de Paris, Creteil, France.

Background: The Arab world has an increasing prevalence of strokes, a leading cause of death in this part of the world.

Aims: The aim of this article is to quantify the stroke research activity in the Arab countries over the past 15 years taking into consideration the population, GDP, and DALY of each country.

Methods: A PubMed search was conducted to find stroke research articles published from the Arab countries between 2002 and 2016 (inclusive). Read More

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December 2018

Presence of both anti-contactin 1 and anti-neurofascin 140 antibodies in a case of chronic inflammatory demyelinating polyneuropathy.

eNeurologicalSci 2018 Dec 22;13:38-39. Epub 2018 Nov 22.

Department of Neurology, University of Florida, Gainesville, FL 32610, United States.

Chronic inflammatory demyelinating polyneuropathy (CIDP) is an acquired disorder of peripheral nerves and nerve roots. Its cause is unknown, but recently antibodies to nodal and paranodal proteins have been discovered in a small subset of CIDP patients. These contactin and neurofascin-related immune-mediated neuropathies are thought to be variants of CIDP and often respond suboptimally to standard therapy. Read More

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December 2018

Data in support for the measurement of heparan sulfate and dermatan sulfate by LC-MS/MS analysis.

Data Brief 2018 Dec 26;21:2398-2404. Epub 2018 Nov 26.

Newborn Screening, Biochemistry and Pharmacology Laboratory, Pediatric Neurology Unit and Laboratories, Meyer Children׳s University Hospital, Florence, Italy.

This article provides supplementary data for the paper "LC-MS/MS method for simultaneous quantification of heparan sulfate and dermatan sulfate in urine by butanolysis derivatization" (Forni et al., 2018). Several parameters were tested to optimize sample preparation by butanolysis in order to carry out simultaneous quantifications of HS and DS by tandem mass spectrometry. Read More

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December 2018

Atypical type of familial Mediterranean fever: An underdiagnosed cause of chronic aseptic meningitis.

Neurol Clin Neurosci 2018 Nov 24;6(6):191-193. Epub 2018 Sep 24.

Department of Neurology Shin-yurigaoka General Hospital Kanagawa Japan.

We report an atypical case of familial Mediterranean fever (FMF) concomitant with chronic aseptic meningitis. The patient experienced fever, abdominal and back pain because of serositis, and headache because of aseptic meningitis for 4 weeks. Blood examinations revealed increased white blood cells and serum amyloid A level. Read More

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November 2018
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Oxford Cognitive Screen - Brazilian Portuguese version (OCS-Br) A pilot study.

Dement Neuropsychol 2018 Oct-Dec;12(4):427-431

Cognitive and Behavioral Neurology Group - Hospital das Clínicas, Universidade de São Paulo, São Paulo, SP, Brazil.

Cognitive impairment is very common in stroke patients and underdiagnosed. Symptoms such as language, praxis, visuospatial, visuoconstructive and memory impairment are prominent. The screening cognitive tests available do not address some specific characteristics of stroke patients and have major limitations in relation to the most impaired cognitive domains. Read More

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December 2018

Applicability of the Test of Variables of Attention - T.O.V.A in Brazilian adults.

Dement Neuropsychol 2018 Oct-Dec;12(4):394-401

Department of Neurology, University of São Paulo, São Paulo, SP, Brazil.

The functioning of attention is complex, a primordial function in several cognitive processes and of great interest to neuropsychology. The Test of Variables of Attention (T.O. Read More

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December 2018

Monitoring of drug treatment and psychosocial intervention with SPECT in Alzheimer patients Implications for neurologically appropriate psychosocial interventions. An observational study. The Osaki-Tajiri Project.

Dement Neuropsychol 2018 Oct-Dec;12(4):380-387

Geriatric Behavioral Neurology, Tohoku University CYRIC, Japan.

We previously examined cerebral blood flow (CBF) with single-photon emission computed tomography (SPECT) in Alzheimer's disease (AD) with reference to drug treatment (donepezil) and psychosocial intervention.

Objective: The aim is to provide "brain-based" evidence for psychosocial interventions using SPECT.

Methods: The participants were 27 consecutive outpatients with AD who received the drug and psychosocial intervention, and SPECT three times (baseline, pre-/post-intervention) at 6 month-intervals. Read More

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December 2018

Late adult-onset adrenomyeloneuropathy evolving with atypical severe frontal lobe syndrome: Importance of neuroimaging.

Radiol Case Rep 2019 Mar 5;14(3):309-314. Epub 2018 Dec 5.

Department of Medical, Surgical, Neurological, Metabolic Sciences, and Aging, 2nd Division of Neurology, Center for Rare Diseases and InterUniversity Center for Research in Neurosciences, University of Campania "Luigi Vanvitelli", Via Sergio Pansini, 80131 Naples, Italy.

X-linked adrenoleukodystrophy (X-ALD) is a rare inherited metabolic disease affecting the nervous system and the adrenal glands. It is caused by a mutation of the gene, resulting in the impaired degradation of very long-chain fatty acids and their subsequent accumulation in several organs and tissues. X-ALD is notable for its high phenotypical variability, that includes isolated adrenocortical insufficiency, slowly progressive myelopathy with paraparesis, ataxia, and peripheral neuropathy to severe childhood cerebral forms. Read More

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Dynamic changes and diagnostic and prognostic significance of serum PCT, hs-CRP and s-100 protein in central nervous system infection.

Exp Ther Med 2018 Dec 16;16(6):5156-5160. Epub 2018 Oct 16.

Inspection Department, People's Hospital of Rizhao, Rizhao, Shandong 276800, P.R. China.

The aim of the study was to analyze the dynamic changes and diagnostic and prognostic significance of serum procalcitonin (PCT), high-sensitivity C-reactive protein (hs-CRP) and s-100 protein in central nervous system infection. A total of 110 patients diagnosed with central nervous system infection in Department of Neurology in the People's Hospital of Rizhao from January 2014 to January 2016 were selected and retrospectively analyzed; they were divided into the bacterium (n=70) and virus (n=40) groups. Another 45 normal subjects were selected as the control group. Read More

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December 2018

Effects of gastrodin on 5-HT and neurotrophic factor in the treatment of patients with post-stroke depression.

Exp Ther Med 2018 Dec 19;16(6):4493-4498. Epub 2018 Sep 19.

Department of Neurology, Binzhou City Center Hospital, Binzhou, Shandong 251700, P.R. China.

Effects of gastrodin on 5-HT and neurotrophic factor in the treatment of patients with post-stroke depression (PSD) were investigated. A total of 78 PSD patients were selected in Binzhou City Center Hospital from September 2013 to December 2016. Patients were randomly divided into the control group and experimental group, 39 patients in each group. Read More

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December 2018

Activation of astrocytes and expression of inflammatory cytokines in rats with experimental autoimmune encephalomyelitis.

Exp Ther Med 2018 Dec 27;16(6):4401-4406. Epub 2018 Sep 27.

Department of Neurology, The Second People's Hospital of Liaocheng, Liaocheng, Shandong 252601, P.R. China.

The aim of the study was to investigate and discuss the activation of astrocytes and the expression of inflammatory cytokines in rats with experimental autoimmune encephalomyelitis (EAE). Twenty Wistar rats were randomly divided into the normal control (n=10) and EAE group (n=10). The rats in the EAE group were injected intraperitoneally with myelin oligodendrocyte glycoprotein 35-55 emulsion, and those in the control group were injected with the equivalent volume of normal saline. Read More

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December 2018

Repeat Interruptions Modify Age at Onset in Myotonic Dystrophy Type 1 by Stabilizing Expansions in Somatic Cells.

Front Genet 2018 27;9:601. Epub 2018 Nov 27.

Center for Human Molecular Genetics, Faculty of Biology, University of Belgrade, Belgrade, Serbia.

CTG expansions in gene, causing myotonic dystrophy type 1 (DM1), are characterized by pronounced somatic instability. A large proportion of variability of somatic instability is explained by expansion size and patient's age at sampling, while individual-specific differences are attributed to additional factors. The age at onset is extremely variable in DM1, and inversely correlates with the expansion size and individual-specific differences in somatic instability. Read More

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November 2018

Severe Recurrent Necrotizing Myopathy in Pregnancy: A Case Report.

Front Neurol 2018 28;9:1028. Epub 2018 Nov 28.

Department of Neurology, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China.

Pregnancy in patients with necrotizing autoimmune myopathy without identified antibodies is rarely reported. We report a case involving a 26-year-old woman with antibody-negative autoimmune necrotizing myopathy who experienced a relapse during pregnancy. Before pregnancy, the patient's myopathy symptoms and elevated serum creatine kinase levels had been successfully controlled with oral prednisone and tacrolimus for 1 year. Read More

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November 2018

Digenic Inheritance of Shortened Repeat Units of the D4Z4 Region and a Loss-of-Function Variant in in a Family With FSHD.

Front Neurol 2018 28;9:1027. Epub 2018 Nov 28.

Molecular Genetics Laboratory UILDM, Santa Lucia Foundation, Rome, Italy.

Facioscapulohumeral muscular dystrophy (FSHD) is a neuromuscular disorder which is typically transmitted by an autosomal dominant pattern, although reduced penetrance and sporadic cases caused by mutations, are often observed. FSHD may be caused by a contraction of a repetitive element, located on chromosome 4 (4q35). This locus is named and consists of 11 to more than 100 repeated units (RU). Read More

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November 2018

Oculomotor Performances Are Associated With Motor and Non-motor Symptoms in Parkinson's Disease.

Front Neurol 2018 28;9:960. Epub 2018 Nov 28.

Department of Neurology, Xinhua Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai, China.

Parkinson's disease (PD) patients exhibit deficits in oculomotor behavior, yet the results are inconsistent across studies. In addition, how these results are associated with clinical symptoms is unclear, especially in China. We designed a case-control study in China including 37 PD patients and 39 controls. Read More

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November 2018

Genetic and Environmental Influences on the Affective Regulation Network: A Prospective Experience Sampling Analysis.

Front Psychiatry 2018 28;9:602. Epub 2018 Nov 28.

Department of Psychiatry and Psychology, Maastricht University Medical Centre, Maastricht, Netherlands.

The study of networks of affective mental states that play a role in psychopathology may help model the influence of genetic and environmental risks. The aim of the present paper was to examine networks of affective mental states (AMS: "cheerful," "insecure," "relaxed," "anxious," "irritated," and "down") over time, stratified by genetic liability for psychopathology and exposure to environmental risk, using momentary assessment technology. Momentary AMS, collected using the experience sampling method (ESM) as well as childhood trauma and genetic liability (based on the level of shared genes and psychopathology in the co-twin) were collected in a population-based sample of female-female twin pairs and sisters (585 individuals). Read More

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November 2018

Subclinical Agoraphobia Symptoms and Regional Brain Volumes in Non-clinical Subjects: Between Compensation and Resilience?

Front Psychiatry 2018 28;9:541. Epub 2018 Nov 28.

Department of Neurosciences and Mental Health, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, University of Milan, Milan, Italy.

Symptoms of anxiety are present not only in panic disorder or other anxiety disorders, but are highly prevalent in the general population. Despite increasing biological research on anxiety disorders, there is little research on understanding subclinical or sub-threshold symptoms relating to anxiety in non-clinical community samples, which could give clues to factors relating to resilience or compensatory changes. This study focused on brain structural correlates of subclinical anxiety/agoraphobia symptoms from a multi-center imaging study. Read More

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November 2018

Blood Markers in Healthy-Aged Nonagenarians: A Combination of High Telomere Length and Low Amyloidβ Are Strongly Associated With Healthy Aging in the Oldest Old.

Front Aging Neurosci 2018 28;10:380. Epub 2018 Nov 28.

Department of Neurology, Donostia Universitary Hospital, San Sebastián, Spain.

Many factors may converge in healthy aging in the oldest old, but their association and predictive power on healthy or functionally impaired aging has yet to be demonstrated. By detecting healthy aging and in turn, poor aging, we could take action to prevent chronic diseases associated with age. We conducted a pilot study comparing results of a set of markers (peripheral blood mononuclear cell or PBMC telomere length, circulating Aβ peptides, anti-Aβ antibodies, and ApoE status) previously associated with poor aging or cognitive deterioration, and their combinations, in a cohort of "neurologically healthy" (both motor and cognitive) nonagenarians ( = 20) and functionally impaired, institutionalized nonagenarians ( = 38) recruited between 2014 and 2015. Read More

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November 2018

Downregulation of Neuronal and Dendritic Connexin36-Made Electrical Synapses Without Glutamatergic Axon Terminals in Spinal Anterior Horn Cells From the Early Stage of Amyotrophic Lateral Sclerosis.

Front Neurosci 2018 28;12:894. Epub 2018 Nov 28.

Department of Neurology, Neurological Institute, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan.

Connexin36 (Cx36) forms gap junctions between neurons, which are called electrical synapses, enabling adjacent neurons to communicate directly. The participation of chemical synapses in neurodegeneration in amyotrophic lateral sclerosis (ALS) has long been indicated, but it remains unclear whether electrical synapses are involved in the pathogenesis of ALS. We performed extensive immunopathological analyses using mutant superoxide dismutase 1 (SOD1) transgenic mice and their littermates to investigate whether Cx36-made electrical synapses are affected in motor neuron diseases. Read More

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November 2018
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Investigating the influence of ubiquinone blood level on the abilities of children with specific learning disorder.

Egypt J Neurol Psychiatr Neurosurg 2018 27;54(1):39. Epub 2018 Nov 27.

1Research on Children with Special Needs Department, Medical Research division, National Research Centre, Elbuhouth Street, 12622, Dokki, Cairo, Egypt.

Background: Ubiquinone has antioxidant properties and has been linked to cognitive performance in some neuropsychiatric disorders. Its role in specific learning disorder manifestations has not been previously investigated. Therefore, the aim of this study was to measure the blood levels of ubiquinone in a group of children with specific learning disorder in comparison to typically developing children and to investigate the correlation between ubiquinone levels in children with specific learning disorder and some of their intellectual capabilities, reading, spelling and writing performance. Read More

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November 2018

Sympathetic skin response in patients with systemic sclerosis and rheumatoid arthritis.

Egypt J Neurol Psychiatr Neurosurg 2018 27;54(1):38. Epub 2018 Nov 27.

3Department of Neurology and Psychiatry, Aswan University Hospital, Aswan, Egypt.

Background: Sympathetic skin response (SSR) is a technique to assess the sympathetic cholinergic pathways. Sympathetic dysfunction may participate in the development of pain, which is the major complaint in patients with systemic sclerosis (SSc) and rheumatoid arthritis (RA).

Objectives: In this study, we aimed to assess the autonomic dysfunction in patients with (SSc) and (RA) using SSR as a simple neurophysiologic test. Read More

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November 2018

Transmission of amyloid-β protein pathology from cadaveric pituitary growth hormone.

Nature 2018 Dec 13. Epub 2018 Dec 13.

MRC Prion Unit at UCL, UCL Institute of Prion Diseases, London, UK.

We previously reported the presence of amyloid-β protein (Aβ) deposits in individuals with Creutzfeldt-Jakob disease (CJD) who had been treated during childhood with human cadaveric pituitary-derived growth hormone (c-hGH) contaminated with prions. The marked deposition of parenchymal and vascular Aβ in these relatively young individuals with treatment-induced (iatrogenic) CJD (iCJD), in contrast to other prion-disease patients and population controls, allied with the ability of Alzheimer's disease brain homogenates to seed Aβ deposition in laboratory animals, led us to argue that the implicated c-hGH batches might have been contaminated with Aβ seeds as well as with prions. However, this was necessarily an association, and not an experimental, study in humans and causality could not be concluded. Read More

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December 2018
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The neurobiological basis of narcolepsy.

Nat Rev Neurosci 2018 Dec 13. Epub 2018 Dec 13.

Department of Neurology, Beth Israel Deaconess Medical Center and Harvard Medical School, Boston, MA, USA.

Narcolepsy is the most common neurological cause of chronic sleepiness. The discovery about 20 years ago that narcolepsy is caused by selective loss of the neurons producing orexins (also known as hypocretins) sparked great advances in the field. Here, we review the current understanding of how orexin neurons regulate sleep-wake behaviour and the consequences of the loss of orexin neurons. Read More

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December 2018

Development of a newborn screening tool based on bivariate normal limits: using psychosine and galactocerebrosidase determination on dried blood spots to predict Krabbe disease.

Genet Med 2018 Dec 14. Epub 2018 Dec 14.

Department of Biostatistics, Population Health Observatory, School of Public Health and Health Professions, University at Buffalo, Buffalo, NY, USA.

Purpose: Newborn screening for Krabbe disease (KD) originated in New York State in 2006 but has proven to have a high false positive rate and low positive predictive value. To improve accuracy of presymptomatic prediction, we propose a screening tool based on two biomarkers, psychosine and galactocerebrosidase enzyme activity (GalC).

Methods: We developed the tool using measures from dried blood spots of 166 normal newborns and tested it on dried blood spot measures from 15 newborns who later developed KD, 8 newborns identified as "high risk" by the New York screening protocol but were disease-free at follow-up, and 3 symptomatic children with onset before 4 years of age. Read More

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December 2018

Complementary topology of maintenance and manipulation brain networks in working memory.

Sci Rep 2018 Dec 13;8(1):17827. Epub 2018 Dec 13.

Center for Cognitive Neuroscience, Duke University, Durham, NC, USA.

Working memory (WM) is assumed to consist of a process that sustains memory representations in an active state (maintenance) and a process that operates on these activated representations (manipulation). We examined evidence for two distinct, concurrent cognitive functions supporting maintenance and manipulation abilities by testing brain activity as participants performed a WM alphabetization task. Maintenance was investigated by varying the number of letters held in WM and manipulation by varying the number of moves required to sort the list alphabetically. Read More

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December 2018
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Spatial fine-mapping for gene-by-environment effects identifies risk hot spots for schizophrenia.

Nat Commun 2018 Dec 13;9(1):5296. Epub 2018 Dec 13.

National Centre for Register-based Research, Aarhus University, Aarhus, 8210, Denmark.

Spatial mapping is a promising strategy to investigate the mechanisms underlying the incidence of psychosis. We analyzed a case-cohort study (n = 24,028), drawn from the 1.47 million Danish persons born between 1981 and 2005, using a novel framework for decomposing the geospatial risk for schizophrenia based on locale of upbringing and polygenic scores. Read More

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December 2018
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Multilayer network switching rate predicts brain performance.

Proc Natl Acad Sci U S A 2018 Dec 13. Epub 2018 Dec 13.

The Florey Institute of Neuroscience and Mental Health, The University of Melbourne, Melbourne, VIC 3010, Australia.

Large-scale brain dynamics are characterized by repeating spatiotemporal connectivity patterns that reflect a range of putative different brain states that underlie the dynamic repertoire of brain functions. The role of transition between brain networks is poorly understood, and whether switching between these states is important for behavior has been little studied. Our aim was to model switching between functional brain networks using multilayer network methods and test for associations between model parameters and behavioral measures. Read More

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December 2018
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Much to do with nothing: microsimulation study on time management in primary care.

BMJ 2018 Dec 13;363:k4983. Epub 2018 Dec 13.

VA Center for Clinical Management Research, Ann Arbor, Michigan, USA.

Objective: To investigate the credibility of claims that general practitioners lack time for shared decision making and preventive care.

Design: Monte Carlo microsimulation study.

Setting: Primary care, United States. Read More

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December 2018

Alzheimer's disease: The right drug, the right time.

Science 2018 Dec;362(6420):1250-1251

Department of Neurosciences and Shiley-Marcos Alzheimer's Disease Research Center, University of California San Diego, La Jolla, CA, USA.

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December 2018
2 Reads

Comprehensive functional genomic resource and integrative model for the human brain.

Science 2018 Dec;362(6420)

Program in Computational Biology and Bioinformatics, Yale University, New Haven, CT 06520, USA.

Despite progress in defining genetic risk for psychiatric disorders, their molecular mechanisms remain elusive. Addressing this, the PsychENCODE Consortium has generated a comprehensive online resource for the adult brain across 1866 individuals. The PsychENCODE resource contains ~79,000 brain-active enhancers, sets of Hi-C linkages, and topologically associating domains; single-cell expression profiles for many cell types; expression quantitative-trait loci (QTLs); and further QTLs associated with chromatin, splicing, and cell-type proportions. Read More

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December 2018
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Transcriptome-wide isoform-level dysregulation in ASD, schizophrenia, and bipolar disorder.

Science 2018 Dec;362(6420)

Department of Psychiatry, Semel Institute, David Geffen School of Medicine, University of California, Los Angeles, 695 Charles E. Young Drive South, Los Angeles, CA 90095, USA.

Most genetic risk for psychiatric disease lies in regulatory regions, implicating pathogenic dysregulation of gene expression and splicing. However, comprehensive assessments of transcriptomic organization in diseased brains are limited. In this work, we integrated genotypes and RNA sequencing in brain samples from 1695 individuals with autism spectrum disorder (ASD), schizophrenia, and bipolar disorder, as well as controls. Read More

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December 2018
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Genome-wide de novo risk score implicates promoter variation in autism spectrum disorder.

Science 2018 Dec;362(6420)

Department of Psychiatry, UCSF Weill Institute for Neurosciences, University of California, San Francisco, CA, USA.

Whole-genome sequencing (WGS) has facilitated the first genome-wide evaluations of the contribution of de novo noncoding mutations to complex disorders. Using WGS, we identified 255,106 de novo mutations among sample genomes from members of 1902 quartet families in which one child, but not a sibling or their parents, was affected by autism spectrum disorder (ASD). In contrast to coding mutations, no noncoding functional annotation category, analyzed in isolation, was significantly associated with ASD. Read More

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December 2018
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Neuron-specific signatures in the chromosomal connectome associated with schizophrenia risk.

Science 2018 Dec;362(6420)

Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, NY 10027, USA.

To explore the developmental reorganization of the three-dimensional genome of the brain in the context of neuropsychiatric disease, we monitored chromosomal conformations in differentiating neural progenitor cells. Neuronal and glial differentiation was associated with widespread developmental remodeling of the chromosomal contact map and included interactions anchored in common variant sequences that confer heritable risk for schizophrenia. We describe cell type-specific chromosomal connectomes composed of schizophrenia risk variants and their distal targets, which altogether show enrichment for genes that regulate neuronal connectivity and chromatin remodeling, and evidence for coordinated transcriptional regulation and proteomic interaction of the participating genes. Read More

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December 2018
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Brain β-Amyloid and Atrophy in Individuals at Increased Risk of Cognitive Decline.

AJNR Am J Neuroradiol 2018 Dec 13. Epub 2018 Dec 13.

Division of Clinical Neurosciences (N.K., J.O.R.), Turku University Hospital, Turku, Finland.

Background And Purpose: The relationship between brain β-amyloid and regional atrophy is still incompletely understood in elderly individuals at risk of dementia. Here, we studied the associations between brain β-amyloid load and regional GM and WM volumes in older adults who were clinically evaluated as being at increased risk of cognitive decline based on cardiovascular risk factors.

Materials And Methods: Forty subjects (63-81 years of age) were recruited as part of a larger study, the Finnish Geriatric Intervention Study to Prevent Cognitive Impairment and Disability. Read More

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December 2018
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MRI Abnormalities Predominate in the Bottom Part of the Sulcus with Type II Focal Cortical Dysplasia: A Quantitative Study.

AJNR Am J Neuroradiol 2018 Dec 13. Epub 2018 Dec 13.

From the Departments of Neurosurgery (Z.L., X.W., K.Z., J.Z.)

Background And Purpose: Type II focal cortical dysplasia is a common histopathological substrate in focal epilepsy. This study explored the spatial distribution of abnormal findings on MR imaging across the sulcus with type II focal cortical dysplasia using quantitative MR imaging postprocessing techniques.

Materials And Methods: The morphometric analysis program and normalized FLAIR signal intensity analysis were applied to retrospectively analyze the MR imaging data of 58 patients with histopathologically confirmed type II focal cortical dysplasia. Read More

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December 2018

The Impact of Diabetes on Outcomes After Acute Ischemic Stroke: A Prospective Observational Study.

J Stroke Cerebrovasc Dis 2018 Dec 10. Epub 2018 Dec 10.

The Stroke Program, The Neuroscience Institute, Hamad Medical Corporation, Doha, Qatar; Department of Medicine (Neurology), University of Alberta Stroke Program, Edmonton, Alberta, Canada. Electronic address:

Background: Stroke in diabetics may delay recovery and increases the risk of early recurrence of stroke. We compared the outcomes of patients (with and without diabetes) admitted with an acute ischemic stroke (AIS) in the state of Qatar.

Patients And Methods: We prospectively compared the clinical presentation, complications, discharge outcome, and stroke recurrence at 90 days in patients with and without diabetes. Read More

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December 2018