398,332 results match your criteria Neurology Now [Journal]


Early life antecedents of positive child health among 10-year-old children born extremely preterm.

Pediatr Res 2019 Apr 20. Epub 2019 Apr 20.

Department of Environmental Sciences and Engineering, Gillings School of Global Public Health, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.

Objective: To identify modifiable antecedents during pre-pregnancy and pregnancy windows associated with a positive child health at 10 years of age.

Study Design: Data on 889 children enrolled in the Extremely Low Gestational Age Newborn (ELGAN) study in 2002-2004 were analyzed for associations between potentially modifiable maternal antecedents during pre-pregnancy and pregnancy time windows and a previously described positive child health index (PCHI) score at 10 years of age. Stratification by race was also investigated for associations with investigated antecedents. Read More

View Article

Download full-text PDF

Source
http://www.nature.com/articles/s41390-019-0404-x
Publisher Site
http://dx.doi.org/10.1038/s41390-019-0404-xDOI Listing
April 2019
1 Read

Acute cerebellar stroke and middle cerebral artery stroke exert distinctive modifications on functional cortical connectivity: A comparative study via EEG graph theory.

Clin Neurophysiol 2019 Apr 6;130(6):997-1007. Epub 2019 Apr 6.

Unità Operativa Complessa di Neurologia, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy; Institute of Neurology, Area of Neuroscience, Catholic University of The Sacred Heart, Rome, Italy.

Objective: We tested whether acute cerebellar stroke may determine changes in brain network architecture as defined by cortical sources of EEG rhythms.

Methods: Graph parameters of 41 consecutive stroke patients (<5 days from the event) were studied using eLORETA EEG sources. Network rearrangements of stroke patients were investigated in delta, alpha 2, beta 2 and gamma bands in comparison with healthy subjects. Read More

View Article

Download full-text PDF

Source
https://linkinghub.elsevier.com/retrieve/pii/S13882457193011
Publisher Site
http://dx.doi.org/10.1016/j.clinph.2019.03.017DOI Listing
April 2019
1 Read

Levetiracetam-induced a new seizure type in a girl with a novel SV2A gene mutation.

Clin Neurol Neurosurg 2019 Mar 28;181:64-66. Epub 2019 Mar 28.

Department of Neurology, Xuanwu Hospital, Capital Medical University, Beijing 100053, China; The Beijing Key Laboratory of Neuromodulation, Beijing 100053, China; Center of Epilepsy, Beijing Institute for Brain Disorder, Beijing 100069, China; Department of Pediatrics, Xuanwu Hospital, Capital Medical University, Beijing 100053, China. Electronic address:

The target brain binding site of levetiracetam (LEV) is synaptic vesicle glycoprotein 2A (SV2A). Up to now, only a homozygous pathogenic SV2A gene mutation was reported in human. We now report a novel heterozygous pathogenic SV2A gene mutation both in a girl and her mother result in epilepsy and poor response to LEV. Read More

View Article

Download full-text PDF

Source
https://linkinghub.elsevier.com/retrieve/pii/S03038467193008
Publisher Site
http://dx.doi.org/10.1016/j.clineuro.2019.03.020DOI Listing
March 2019
1 Read

Cerebral cortex impairment in neuromyelitis optica spectrum disorder: A case report and literature review.

Mult Scler Relat Disord 2019 Apr 6;32:9-12. Epub 2019 Apr 6.

Department of Neurology, Chinese PLA General Hospital, Beijing, China. Electronic address:

Background: Neuromyelitis optica spectrum disorder (NMOSD) is an autoimmune disorder of the central nervous system that usually presents with acute myelitis and/or optic neuritis. Cortical lesions used to be regarded as "red flags" of NMOSD, and indicated the possibility of alternative diagnoses. We recently had reported a NMOSD patient with weakness in both lower limbs resulting from cortical damage, which was usually attributed to spinal cord lesions. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.msard.2019.04.005DOI Listing

Episodic memory and learning rates in amyotrophic lateral sclerosis without dementia.

Cortex 2019 Mar 19;117:257-265. Epub 2019 Mar 19.

Neurodegenerative Disease Unit, Department of Clinical Research in Neurology, University of Bari "Aldo Moro", Lecce, Italy; Neurodegenerative Disease Unit, Department of Basic Medical Sciences, Neuroscience and Sense Organs, University of Bari "Aldo Moro", Bari, Italy. Electronic address:

In amyotrophic lateral sclerosis (ALS), memory deficits may be primary or secondary to executive dysfunction. We assessed episodic memory and executive function of nondemented ALS patients, comparing episodic memory profiles and learning rates of ALS patients with those of mild cognitive impairment (MCI) subjects and cognitively healthy controls (HC). In a multidisciplinary tertiary centre for motor neuron disease, 72 nondemented ALS patients, 57 amnestic MCI (aMCI), 89 single non amnestic MCI with compromised executive functions (dysexecutive MCI), and 190 HC were enrolled. Read More

View Article

Download full-text PDF

Source
https://linkinghub.elsevier.com/retrieve/pii/S00109452193010
Publisher Site
http://dx.doi.org/10.1016/j.cortex.2019.03.003DOI Listing
March 2019
1 Read

Neural organization of speech production: A lesion-based study of error patterns in connected speech.

Cortex 2019 Mar 7;117:228-246. Epub 2019 Mar 7.

University of South Carolina, Department of Communication Sciences and Disorders, United States.

While numerous studies have explored single-word naming, few have evaluated the behavioral and neural correlates of more naturalistic language, like connected speech, which we produce every day. Here, in a retrospective analysis of 120 participants at least six months following left hemisphere stroke, we evaluated the distribution of word errors (paraphasias) and associated brain damage during connected speech (picture description) and object naming. While paraphasias in connected speech and naming shared underlying neural substrates, analysis of the distribution of paraphasias suggested that lexical-semantic load is likely reduced during connected speech. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.cortex.2019.02.029DOI Listing
March 2019
3 Reads

Ranking of stroke and cardiovascular risk factors for an optimal risk calculator design: Logistic regression approach.

Comput Biol Med 2019 Mar 25;108:182-195. Epub 2019 Mar 25.

Stroke Monitoring and Diagnostic Division, AtheroPoint™, Roseville, CA, USA. Electronic address:

Purpose: Conventional cardiovascular risk factors (CCVRFs) and carotid ultrasound image-based phenotypes (CUSIP) are independently associated with long-term risk of cardiovascular (CV) disease. In this study, 26 cardiovascular risk (CVR) factors which consisted of a combination of CCVRFs and CUSIP together were ranked. Further, an optimal risk calculator using AtheroEdge composite risk score (AECRS1. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.compbiomed.2019.03.020DOI Listing

Generation of induced pluripotent stem cells (iPSCs) IRMBi002-A from an Alzheimer's disease patient carrying a D694N mutation in the APP gene.

Stem Cell Res 2019 Apr 15;37:101438. Epub 2019 Apr 15.

Institute for Regenerative Medicine and Biotherapy (IRMB), Montpellier, France; Hopital St Eloi, CHU Montpellier, 80 rue augustin Fliche, 30295 Montpellier, France. Electronic address:

Induced pluripotent stem cells (iPSC) were generated from skin fibroblasts obtained from a 58 year-old woman suffering from Alzheimer's disease and carrying a D694N mutation on Amyloid precursor protein (APP). Fibroblasts were reprogrammed into iPSC using the integration-free Sendai Virus which allows the expression of the Yamanaka factors. Verification of their pluripotency was achieved by demonstrating the expression of pluripotency markers and their differentiation potential into the three primary germ layers. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.scr.2019.101438DOI Listing

Novel variants and phenotypes widen the phenotypic spectrum of GABRG2-related disorders.

Seizure 2019 Mar 19;69:99-104. Epub 2019 Mar 19.

PEDEGO Research Unit, University of Oulu, Oulu, Finland; Medical Research Center, Oulu University Hospital, University of Oulu, Oulu, Finland; Biocenter Oulu, University of Oulu, Oulu, Finland; Department of Children and Adolescents, Division of Pediatric Neurology, Oulu University Hospital, Oulu, Finland.

Purpose: Next-generation sequencing (NGS) has made genetic testing of patients with epileptic encephalopathies easier - novel variants are discovered and new phenotypes described. Variants in the same gene - even the same variant - can cause different types of epilepsy and neurodevelopmental disorders. Our aim was to identify the genetic causes of epileptic encephalopathies in paediatric patients with complex phenotypes. Read More

View Article

Download full-text PDF

Source
https://linkinghub.elsevier.com/retrieve/pii/S10591311173083
Publisher Site
http://dx.doi.org/10.1016/j.seizure.2019.03.010DOI Listing
March 2019
1 Read

Quality of life and correlating factors in children, adolescents with epilepsy, and their caregivers: A cross-sectional multicenter study from Germany.

Seizure 2019 Mar 29;69:92-98. Epub 2019 Mar 29.

Epilepsy Center Hessen and Department of Neurology, Philipps-University Marburg, Marburg (Lahn), Germany; Epilepsy Center Frankfurt Rhine-Main and Department of Neurology, Goethe University Frankfurt, Frankfurt am Main, Germany; LOEWE Center for Personalized Translational Epilepsy Research (CePTER), Goethe-University Frankfurt, Frankfurt am Main, Germany. Electronic address:

Purpose: To identify factors correlating with poorer quality of life (QoL) in children and adolescents with epilepsy and regarding QoL and depression of their caregivers in Germany.

Method: A cross-sectional multicenter study on QoL and depression was performed in two representative German states (Hessen and Schleswig-Holstein). Variance analysis, linear regression, and bivariate correlation were used to identify correlating factors for poorer QoL and symptoms of depression. Read More

View Article

Download full-text PDF

Source
https://linkinghub.elsevier.com/retrieve/pii/S10591311183052
Publisher Site
http://dx.doi.org/10.1016/j.seizure.2019.03.016DOI Listing
March 2019
1 Read

Previous glucocorticoid treatment in childhood and adolescence is associated with long-term differences in subcortical grey matter volume and microstructure.

Neuroimage Clin 2019 Apr 11;23:101825. Epub 2019 Apr 11.

Danish Research Centre for Magnetic Resonance, Centre for Functional and Diagnostic Imaging and Research, Copenhagen University Hospital, Hvidovre, Denmark. Electronic address:

Background: Glucocorticoids are widely used in the treatment of several pediatric diseases with undisputed disease-related benefits. Perinatal exposure to high levels of glucocorticoids can have long-term adverse cerebral effects. In adults, glucocorticoid treatment has been associated with smaller volumes of subcortical grey matter structures. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.nicl.2019.101825DOI Listing

Longitudinal tau-PET uptake and atrophy in atypical Alzheimer's disease.

Neuroimage Clin 2019 Apr 10;23:101823. Epub 2019 Apr 10.

Department of Radiology, Mayo Clinic, Rochester, MN, USA.

The aims of this study were: to examine regional rates of change in tau-PET uptake and grey matter volume in atypical Alzheimer's disease (AD); to investigate the role of age in such changes; to describe multimodal regional relationships between tau accumulation and atrophy. Thirty atypical AD patients underwent baseline and one-year follow-up MRI, [F]AV-1451 PET and PiB PET. Region- and voxel-level rates of tau accumulation and grey matter atrophy relative to cognitively unimpaired individuals, and the influence of age on such rates, were assessed. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.nicl.2019.101823DOI Listing
April 2019
1 Read

Protective function of autophagy during VLCFA-induced cytotoxicity in a neurodegenerative cell model.

Free Radic Biol Med 2019 Apr 17. Epub 2019 Apr 17.

Université de Bourgogne Franche-Comté, Dijon, F-21000, France; Team 'Biochemistry of the Peroxisome, Inflammation and Lipid Metabolism' EA 7270, Inserm, F-21000, Dijon, France. Electronic address:

In recent years, a particular interest has focused on the accumulation of fatty acids with very long chains (VLCFA) in the occurrence of neurodegenerative diseases such as Alzheimer's disease, multiple sclerosis or dementia. Indeed, it seems increasingly clear that this accumulation of VLCFA in the central nervous system is accompanied by a progressive demyelination resulting in death of neuronal cells. Nevertheless, molecular mechanisms by which VLCFA result in toxicity remain unclear. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.freeradbiomed.2019.04.016DOI Listing

Rapamycin relieves inflammation of experimental autoimmune encephalomyelitis by altering the balance of Treg/Th17 in a mouse model.

Neurosci Lett 2019 Apr 17. Epub 2019 Apr 17.

Department of Neurology, the second Hospital of Hebei Medical University, ShiJiaZhuang, Hebei, 050000, China.

This study was to observed the different doses of rapamycin on the treatment of experimental autoimmune encephalomyelitis (EAE) in C57BL/6 mice. 63 female C57BL/6 mice (6-8 weeks) was chosen and randomly divided into three groups: control, low-dose rapamycin-treated EAE mice (0.3 mg/kg), and high-dose rapamycin-treated EAE mice (1 mg/kg). Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.neulet.2019.04.035DOI Listing

Long non-coding RNA-p21 regulates MPP-induced neuronal injury by targeting miR-625 and derepressing TRPM2 in SH-SY5Y cells.

Chem Biol Interact 2019 Apr 17. Epub 2019 Apr 17.

Department of Blood Transfusion, Central Hospital of Linyi, No. 17, Health Road, Yishui County, 276400, Linyi City, Shandong Province, China. Electronic address:

Parkinson's disease (PD), the second most prevalent age-related neurodegenerative disease, occurs as a result of the loss of dopaminergic neurons in the substantia nigra. Long non-coding RNA-p21 (lnc-p21) has been demonstrated to be upregulated in PD. However, its role in PD is unknown. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.cbi.2019.04.017DOI Listing

In vitro models of synucleinopathies: informing on molecular mechanisms and protective strategies.

J Neurochem 2019 Apr 20. Epub 2019 Apr 20.

Institute of Neuroscience, The Medical School, Newcastle University, Framlington Place, Newcastle Upon Tyne, NE2 4HH, UK.

Alpha-synuclein (aSyn) is a central player in Parkinson's disease (PD) and in a spectrum of neurodegenerative diseases collectively known as synucleinopathies. The protein was first associated with PD just over 20 years ago, when it was found to (i) be a major component of Lewy bodies and, (ii) to be also associated with familial forms of PD. The characterization of aSyn pathology has been achieved through postmortem studies of human brains. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/jnc.14707DOI Listing
April 2019
2 Reads

The value of multi-disciplinary team in syncope clinic for the effective diagnosis of complex syncope.

Pacing Clin Electrophysiol 2019 Apr 20. Epub 2019 Apr 20.

Heart Center, Shanghai Jiaotong University Affiliated Sixth People's Hospital, Shanghai Jiaotong University, School of Medicine, Shanghai, P. R.

Background: Syncope is a perplexing challenge that often receives thorough evaluation, yet the diagnosis remains unclear. Usually, the emergency department is the first point at which patients present with syncope. However, diverse medical factors, including low diagnostic rates and inconsistent management by doctors, add to healthcare costs and delay diagnosis for syncope patients. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/pace.13703DOI Listing

Alterations in Cortical Morphology after Neonatal Stroke: Compensation in the Contralesional Hemisphere?

Dev Neurobiol 2019 Apr 20. Epub 2019 Apr 20.

Université d'Angers, Laboratoire Angevin de Recherche en Ingénierie des Systèmes (LARIS), EA, 7315, 49000, Angers, France.

Although neonatal arterial ischemic Stroke is now well-studied, its complex consequences on long-term cortical brain development has not yet been solved. In order to understand the brain development after focal early brain lesion, brain morphometry needs to be evaluated using structural parameters. In this work, our aim was to study and analyse the changes in morphometry of ipsi- and contralesional hemispheres in seven-year-old children following neonatal stroke. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/dneu.22679DOI Listing

Toward neuroimaging-based network biomarkers for transient ischemic attack.

Hum Brain Mapp 2019 Apr 19. Epub 2019 Apr 19.

Institute for Brain Research and Rehabilitation, Guangdong Key Laboratory of Mental Health and Cognitive Science, Center for Studies of Psychological Application, South China Normal University, Guangzhou, China.

Stroke is associated with topological disruptions of large-scale functional brain networks. However, whether these disruptions occur in transient ischemic attack (TIA), an important risk factor for stroke, remains largely unknown. Combining multimodal MRI techniques, we systematically examined TIA-related topological alterations of functional brain networks, and tested their reproducibility, structural, and metabolic substrates, associations with clinical risk factors and abilities as diagnostic and prognostic biomarkers. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/hbm.24602DOI Listing

Isocitrate dehydrogenase1 mutation reduces the pericyte coverage of microvessels in astrocytic tumours.

J Neurooncol 2019 Apr 19. Epub 2019 Apr 19.

Department of Neurology, Tangdu Hospital, The Fourth Military Medical University, Xi'an, 710032, Shaanxi, China.

Introduction: Tumour-associated angiogenesis is associated with the malignancy and poor prognosis of glioma. Isocitrate dehydrogenase (IDH) mutations are present in the majority of lower-grade (WHO grade II and III) and secondary glioblastomas, but their roles in tumour angiogenesis remain unclear.

Methods: Using magnetic resonance imaging (MRI), the cerebral blood flow (CBF) of IDH-mutated glioma was measured and compared with the IDH-wildtype glioma. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s11060-019-03156-5DOI Listing

Inhibition of MicroRNA-195 Alleviates Neuropathic Pain by Targeting Patched1 and Inhibiting SHH Signaling Pathway Activation.

Neurochem Res 2019 Apr 19. Epub 2019 Apr 19.

Department of Neurosurgery, Research Institute of Surgery Daping Hospital, Third Military Medical University (Army Medical University), No. 10 Changjiangzhilu Rd, Yuzhong District, Chongqing, 400042, People's Republic of China.

Trigeminal neuralgia (TN) is a type of chronic neuropathic pain that is caused by peripheral nerve lesions that result from various conditions, including the compression of vessels, tumors and viral infections. MicroRNAs (miRs) are increasingly recognized as potential regulators of neuropathic pain. Previous evidence has demonstrated that miR-195 is involved in neuropathic pain, but the mechanism remains unclear. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s11064-019-02797-2DOI Listing

Anti-natalizumab antibodies during 8 years of natalizumab treatment: effect on natalizumab concentration and α4-integrin receptor saturation.

J Neurol 2019 Apr 19. Epub 2019 Apr 19.

Department of Neurology, Neuroscience Amsterdam, Amsterdam MS Center, Amsterdam University Medical Center, De Boelelaan 1117, 1081 HV, Amsterdam, The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s00415-019-09327-8DOI Listing

High-intensity training in patients with spinal and bulbar muscular atrophy.

J Neurol 2019 Apr 19. Epub 2019 Apr 19.

Department of Neurology, Copenhagen Neuromuscular Center, Rigshospitalet, University of Copenhagen, Blegdamsvej 9, 2100, Copenhagen, Denmark.

Objective: Long duration, moderate-intensity exercise is not well tolerated in patients with spinal and bulbar muscular atrophy (SBMA). This study investigated whether patients with SBMA can benefit from high-intensity training (HIT).

Methods: Ten patients with SBMA were randomized to 8 weeks of supervised HIT [n = 5; age = 50 (25-63) years] followed by 8 weeks of self-training or 8 weeks of no training followed by 8 weeks of non-supervised HIT [n = 5; age = 50 (26-54) years]. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s00415-019-09316-xDOI Listing
April 2019
2 Reads

Update on narcolepsy.

Authors:
P J Reading

J Neurol 2019 Apr 19. Epub 2019 Apr 19.

Department of Neurology, James Cook University Hospital, Middlesbrough, TS4 3BW, UK.

The last two decades have seen an explosion in our understanding of the clinical nature of narcolepsy and its pathogenesis, fuelling new approaches to potentially effective treatments. It is now recognised that the full narcoleptic syndrome has significant adverse effects on sleep regulation across the full 24-h period and is often associated with clinical features outside the sleep-wake domain. The discovery that most narcoleptic subjects specifically lack a hypothalamic neuropeptide (hypocretin, also called orexin) was a truly original and landmark observation in 1999, greatly furthering our understanding both of the syndrome itself and sleep biology in general. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s00415-019-09310-3DOI Listing

In search of distinct MS-related fatigue subtypes: results from a multi-cohort analysis in 1.403 MS patients.

J Neurol 2019 Apr 19. Epub 2019 Apr 19.

Department of Neurology, Medical Faculty, Heinrich Heine University Düsseldorf, Düsseldorf, Germany.

Fatigue is among the most disabling symptoms in patients with multiple sclerosis (PwMS). The common distinction between cognitive and motor fatigue is typically incorporated in self-rating instruments, such as the Chalder Fatigue Questionnaire (CFQ), the Fatigue Scale for Motor and Cognitive Functions (FSMC) or the Modified Fatigue Impact Scale (MFIS). The present study investigated the factor structure of the CFQ, the FSMC and the MFIS utilizing exploratory (EFA) and confirmatory factor analysis (CFA) as well as exploratory structural equation modeling (ESEM). Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s00415-019-09311-2DOI Listing

Integrative stimulus-specific adaptation of the natural sounds in the auditory cortex of the awake rat.

Brain Struct Funct 2019 Apr 19. Epub 2019 Apr 19.

Department of Neurology of the Second Affiliated Hospital of Zhejiang University School of Medicine, Interdisciplinary Institute of Neuroscience and Technology of Qiushi Academy for Advanced Studies, College of Biomedical Engineering and Instrument Science, Zhejiang University, Room 210, Kexue Building, Huajiachi Campus, 258 Kaixuan Rd, Jianggan District, Hangzhou, 310029, Zhejiang, China.

Using oddball stimulus with pure tones, researchers have extensively investigated stimulus-specific adaptation (SSA), which has been regarded as a method of novelty detection, from the inferior colliculus (IC) to the auditory cortex (AC). However, until now, it is not clear whether SSA is preserved for natural sounds or whether it exists for spatial cues in the AC. Moreover, it is also unclear whether SSA integrates different types of cues within a single modality such as sound location and sound identity. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s00429-019-01880-2DOI Listing

Right hemisphere occipital rTMS impairs working memory in visualizers but not in verbalizers.

Sci Rep 2019 Apr 19;9(1):6307. Epub 2019 Apr 19.

Department of Neurology, University Hospital, LMU Munich, Munich, Germany.

Distinguishing between verbal and visual working memory processes is complicated by the fact that the strategy used is hard to control or even assess. Many stimuli used in working memory tasks can be processed via verbal or visual coding, such as the digits in the digit span backwards task (DSB). The present study used repetitive transcranial magnetic stimulation (rTMS) to examine the use of visual processing strategies in the DSB. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/s41598-019-42733-6DOI Listing

Misplaced ADAR2 contributes to the pathogenesis of C9ALS/FTD.

Authors:
Heather Wood

Nat Rev Neurol 2019 Apr 19. Epub 2019 Apr 19.

Nature Reviews Neurology, .

View Article

Download full-text PDF

Source
http://www.nature.com/articles/s41582-019-0190-4
Publisher Site
http://dx.doi.org/10.1038/s41582-019-0190-4DOI Listing
April 2019
1 Read

Elucidation of the pathogenic mechanism and potential treatment strategy for a female patient with spastic paraplegia derived from a single-nucleotide deletion in PLP1.

J Hum Genet 2019 Apr 19. Epub 2019 Apr 19.

Institute of Medical Genetics, Tokyo Women's Medical University, Tokyo, 162-8666, Japan.

Pelizaeus-Merzbacher disease (PMD) is an X-linked recessive disorder caused by abnormalities in the gene PLP1. Most females harboring heterozygous PLP1 abnormalities are basically asymptomatic. However, as a result of abnormal patterns of X-chromosome inactivation, it is possible for some female carriers to be symptomatic. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/s10038-019-0600-xDOI Listing

Retinal microvasculature and cerebral small vessel disease in the Lothian Birth Cohort 1936 and Mild Stroke Study.

Sci Rep 2019 Apr 19;9(1):6320. Epub 2019 Apr 19.

Centre for Cognitive Ageing and Cognitive Epidemiology, University of Edinburgh, Edinburgh, UK.

Research has suggested that the retinal vasculature may act as a surrogate marker for diseased cerebral vessels. Retinal vascular parameters were measured using Vessel Assessment and Measurement Platform for Images of the Retina (VAMPIRE) software in two cohorts: (i) community-dwelling older subjects of the Lothian Birth Cohort 1936 (n = 603); and (ii) patients with recent minor ischaemic stroke of the Mild Stroke Study (n = 155). Imaging markers of small vessel disease (SVD) (white matter hyperintensities [WMH] on structural MRI, visual scores and volume; perivascular spaces; lacunes and microbleeds), and vascular risk measures were assessed in both cohorts. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/s41598-019-42534-xDOI Listing

Onset of efficacy and duration of response of galcanezumab for the prevention of episodic migraine: a post-hoc analysis.

J Neurol Neurosurg Psychiatry 2019 Apr 19. Epub 2019 Apr 19.

Eli Lilly and Company, Indianapolis, Indiana, USA.

Background And Objective: As new migraine prevention treatments are developed, the onset of a preventive effect, how long it is maintained and whether patients initially non-responsive develop clinically meaningful responses with continued treatment can be assessed.

Methods: Analyses were conducted post-hoc of a double-blind, placebo-controlled, phase II-a study in patients with episodic migraine receiving galcanezumab 150 mg or placebo biweekly for 12 weeks ( 13:885, 2014). The number of migraine headache days per week, and onset of efficacy measured as the first week galacanezumab separated from placebo were determined. Read More

View Article

Download full-text PDF

Source
http://jnnp.bmj.com/lookup/doi/10.1136/jnnp-2018-320242
Publisher Site
http://dx.doi.org/10.1136/jnnp-2018-320242DOI Listing
April 2019
1 Read

Association between restless legs syndrome and other movement disorders.

Neurology 2019 Apr 19. Epub 2019 Apr 19.

From the Section of Neurology (H.A.-N., F.J.J.-J.), Hospital Universitario del Sureste, Arganda del Rey, Madrid; and University Institute of Molecular Pathology Biomarkers (E.G.-M., J.A.G.A), UNEx, ARADyAL Instituto de Salud Carlos III, Cáceres, Spain.

Objective: This review focuses on the possible association between restless legs syndrome (RLS) and movement disorders, including Parkinson disease (PD), other parkinsonian syndromes, essential tremor, choreic and dystonic syndromes, Tourette syndrome, and heredodegenerative ataxias.

Methods: Review of PubMed from 1966 to September 2018 and identification of references of interest for the topic. A meta-analysis of eligible studies on the frequency of RLS in patients with PD and controls using Meta-DiSc1. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1212/WNL.0000000000007500DOI Listing

Insights into the pathogenesis of normal-pressure hydrocephalus.

Neurology 2019 Apr 19. Epub 2019 Apr 19.

From the Memory and Aging Center, Department of Neurology (S.S.), University of California, San Francisco; School of Medical and Health Sciences (S.M.L.), Edith Cowan University, Australia; and School of Pharmacy and Biomedical Sciences (S.M.L.), Faculty of Health Sciences, Curtin Health Innovation Research Institute, Curtin University, Australia.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1212/WNL.0000000000007495DOI Listing

Inflammatory cytokines and ischemic stroke risk: The REGARDS cohort.

Neurology 2019 Apr 19. Epub 2019 Apr 19.

From the Departments of Pathology and Laboratory Medicine (N.S.J., N.A.Z., M.C.) and Medicine (N.A.Z., M.C.), University of Vermont Larner College of Medicine, Burlington; Department of Biometry (P.W.C.), University of Vermont, Burlington; Department of Biostatistics (S.E.J.), University of Alabama at Birmingham; Department of Epidemiology and Biostatistics (L.A.M.), Dornsife School of Public Health, Drexel University, Philadelphia, PA; and Department of Neurology and Rehabilitation Medicine (B.K.), University of Cincinnati College of Medicine, OH.

Objective: We studied circulating interleukin (IL)-6, IL-8, and IL-10 concentrations and incident ischemic stroke risk in a biracial cohort, and determined if these cytokines mediated the racial disparity in stroke incidence affecting the black population.

Methods: The Reasons for Geographic and Racial Differences in Stroke study enrolled 30,237 black and white men and women age ≥45 in 2003-2007. We measured baseline IL-6, IL-8, and IL-10 in a case-cohort study of 557 participants with incident stroke over 5. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1212/WNL.0000000000007416DOI Listing

Nonsense mutation in causes normal-pressure hydrocephalus with ciliary abnormalities.

Neurology 2019 Apr 19. Epub 2019 Apr 19.

From the Departments of Neuropsychiatry (Y.M., N.Y., H.O.) and Otolaryngology-Head and Neck Surgery (C.S.), Unit of Translation Medicine, and Department of Human Genetics (S.Y., A.K., H.M., K.-i.Y., S.O.), Nagasaki University Graduate School of Biomedical Sciences; Department of Tumor and Diagnostic Pathology, Atomic Bomb Disease Institute (K.M., M.N.), Central Laboratory, Institute of Tropical Medicine (NEKKEN) (M.S.), and Gene Research Center, Center for Frontier Life Sciences (T.K.), Nagasaki University; Department of Infectious Diseases (T.T.) and Child and Adolescent Psychiatry Community Partnership Unit (A.I.), Nagasaki University Hospital; Department of Cell Pathology (Y.K.), Graduate School of Medical Sciences, Kumamoto University; and Department of Clinical Psychology, Faculty of Medicine (N.K.), Kagawa University, Takamatsu, Japan.

Objective: To identify genes related to normal-pressure hydrocephalus (NPH) in one Japanese family with several members with NPH.

Methods: We performed whole-exome sequencing (WES) on a Japanese family with multiple individuals with NPH and identified a candidate gene. Then we generated knockout mouse using CRISPR/Cas9 to confirm the effect of the candidate gene on the pathogenesis of hydrocephalus. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1212/WNL.0000000000007505DOI Listing
April 2019
1 Read

Temporal lobe epilepsy: Hippocampal pathology modulates connectome topology and controllability.

Neurology 2019 Apr 19. Epub 2019 Apr 19.

From the Neuroimaging of Epilepsy Laboratory (B.C.B., F.F., M.L., B.C., A.B., N.B.) and Multimodal Imaging and Connectome Analysis Laboratory (B.C.B.), McConnell Brain Imaging Centre, Montreal Neurological Institute and Hospital, McGill University, Canada; Department of Bioengineering and Electrical and Systems Engineering (S.G., D.S.B.), University of Pennsylvania, Philadelphia; and York Neuroimaging Center (E.J., J.S.), University of York, UK.

Objective: To assess whether hippocampal sclerosis (HS) severity is mirrored at the level of large-scale networks.

Methods: We studied preoperative high-resolution anatomical and diffusion-weighted MRI of 44 temporal lobe epilepsy (TLE) patients with histopathologic diagnosis of HS (n = 25; TLE-HS) and isolated gliosis (n = 19; TLE-G) and 25 healthy controls. Hippocampal measurements included surface-based subfield mapping of atrophy and T2 hyperintensity indexing cell loss and gliosis, respectively. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1212/WNL.0000000000007447DOI Listing

Oral anticoagulation in patients with "hemorrhagic-prone" vasculopathies: Overestimated risk?

Neurology 2019 Apr 19. Epub 2019 Apr 19.

From Serviço de Neurologia (L.F.M.), Hospital de Santo António, Centro Hospitalar Universitário do Porto and Instituto de Biologia Molecular e Celular, Instituto de Investigação e Inovação em Saúde Universidade do Porto, Portugal; and Stroke Research Centre (D.W.), University College London and New Zealand Brain Research Institute, Christchurch, New Zealand.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1212/WNL.0000000000007537DOI Listing

Personalizing medical care for MS patients: Monitoring brainstem damage by infrared oculography.

Neurology 2019 Apr 19. Epub 2019 Apr 19.

From Stanford University (P.V.), CA; Institut d'Investigacions Biomèdiques August Pi Sunyer (P.V.), Barcelona, Spain; Weill Institute for Neurosciences (A.J.G.), Division of Neuroimmunology and Glial Biology, Department of Neurology, University of California, San Francisco; Department of Ophthalmology (A.J.G.), UCSF; and New York University (S.G.), NY.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1212/WNL.0000000000007493DOI Listing

Diagnosing and quantifying a common deficit in multiple sclerosis: Internuclear ophthalmoplegia.

Neurology 2019 Apr 19. Epub 2019 Apr 19.

From Amsterdam UMC (J.A.N.B., L.J.B., A.P.), Vrije Universiteit Amsterdam, Department of Neurology, MS Center and Neuro-ophthalmology Expertise Center, Neuroscience Amsterdam; Amsterdam UMC (J.A.N.B., L.J.v.R., H.S.T., A.P.), Vrije Universiteit Amsterdam, Department of Ophthalmology, Neuro-ophthalmology Expertise Center, Neuroscience Amsterdam; Onze Lieve Vrouwe Gasthuis (L.J.v.R., B.M.J.U.), Department of Ophthalmology, Amsterdam, the Netherlands; and Moorfields Eye Hospital and the National Hospital for Neurology and Neurosurgery (A.P.), London, UK.

Objective: We present an objective and quantitative approach for diagnosing internuclear ophthalmoplegia (INO) in multiple sclerosis (MS).

Methods: A validated standardized infrared oculography protocol (DEMoNS [Demonstrate Eye Movement Networks with Saccades]) was used for quantifying prosaccades in patients with MS and healthy controls (HCs). The versional dysconjugacy index (VDI) was calculated, which describes the ratio between the abducting and adducting eye. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1212/WNL.0000000000007499DOI Listing

MRI predicts intracranial hemorrhage in patients who receive long-term oral anticoagulation.

Neurology 2019 Apr 19. Epub 2019 Apr 19.

From the Department of Neurology (J.M.-F., L.P.-S., R.M., R.D.-M., A.M.-D., P.C.-R., E.J.-X.) and Epidemiology (I.G.), Hospital de la Santa Creu i Sant Pau, Biomedical Research Institute, Barcelona; Departments of Radiology (S.M.-M.) and Neurology (A.R.-C.), Hospital del Mar-Parc de Salut Mar, Barcelona; Unitat RM IDI (E.M.) and Department of Neurosciences (M.H.-P.), Hospital Germans Trias i Pujol, Badalona; Department of Neurology (M.Z.), Arcispedale Santa Maria Nuova IRCCS, Reggio Emilia, Italy; Department of Neurology (M.G.-C.), Hospital de Sant Joan Despí Moises Broggi, Sant Joan Despí, Spain; Department of Neurology (L. Lara), Hospital de León; Department of Neurology (A.B.), Hospital Universitari Son Espases, Palma de Mallorca; Department of Neurology (A.C.), Hospital de Valladolid; Department of Neurology (A.M.D.A.-B.), Hospital de Donostia; Department of Neurology (Y.B.), Hospital de Burgos; Department of Neurology (B.F.), Hospital Universitario La Paz, Universidad Autónoma de Madrid, Instituto de Investigación IdiPaz, Madrid; Department of Neurology (D. Cánovas), Hospital Parc Taulí, Sabadell; Department of Neurology (L. Llull), Hospital Clínic, Barcelona; Department of Neurology (B.Z.), Hospital de Navarra, Pamplona; Department of Neurology (M.F.), Hospital de Basurto, Bilbao; Department of Neurology (I.C.-N.), Hospital San Pedro de Alcántara, Cáceres; Department of Neurology (J.S.), Hospital Arnau de Vilanova, Lleida; Department of Neurology (D. Cocho), Hospital de Granollers; Department of Neurology (J.K.), F.Ass. Mutua Terrassa; Department of Neurology (E.P.), Hospital de Mataró; Department of Neurology (A.D.F.), Hospital Ramón y Cajal, Madrid; Department of Neurology (M.S.), Hospital La Rioja, Logroño; Department of Neurology (E.Z.-A.), Hospital Virgen del Rocío, Sevilla; Department of Neurology (J.Z.-B.), Hospital Verge de la Cinta, Tortosa; Department of Neurology (I.D.-M.), Hospital de Albacete; Department of Neurology (J.F.-D.), Centro Médico Asturias, Oviedo; Department of Neurology (A.L.), Hospital La Fe, Valencia; Department of Neurology (J.M.), Hospital Virgen de las Nieves, Granada; and Department of Neurology (M.R.-Y.), Hospital Santiago de Compostela, Santiago de Compostela, Spain.

Objective: We tested the hypothesis that the risk of intracranial hemorrhage (ICH) in patients with cardioembolic ischemic stroke who are treated with oral anticoagulants (OAs) can be predicted by evaluating surrogate markers of hemorrhagic-prone cerebral angiopathies using a baseline MRI.

Methods: Patients were participants in a multicenter and prospective observational study. They were older than 64 years, had a recent cardioembolic ischemic stroke, and were new users of OAs. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1212/WNL.0000000000007532DOI Listing
April 2019
1 Read

New age for progressive multiple sclerosis.

Authors:
Jaime Imitola

Proc Natl Acad Sci U S A 2019 Apr 19. Epub 2019 Apr 19.

Laboratory for Neural Stem Cells and Functional Neurogenetics, Progressive Multiple Sclerosis Clinic and Translational Research Program, Division of Neuroimmunology and Multiple Sclerosis, Department of Neurology, The Ohio State University Neurological Institute, The Ohio State University, Columbus, OH 43221

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1073/pnas.1903796116DOI Listing

MAPK pathway and B cells overactivation in multiple sclerosis revealed by phosphoproteomics and genomic analysis.

Proc Natl Acad Sci U S A 2019 Apr 19. Epub 2019 Apr 19.

Center of Neuroimmunology, Institut d'Investigacions Biomèdiques August Pi Sunyer, Barcelona 08036, Spain;

Dysregulation of signaling pathways in multiple sclerosis (MS) can be analyzed by phosphoproteomics in peripheral blood mononuclear cells (PBMCs). We performed in vitro kinetic assays on PBMCs in 195 MS patients and 60 matched controls and quantified the phosphorylation of 17 kinases using xMAP assays. Phosphoprotein levels were tested for association with genetic susceptibility by typing 112 single-nucleotide polymorphisms (SNPs) associated with MS susceptibility. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1073/pnas.1818347116DOI Listing
April 2019
1 Read

A novel mutation in the gene expands the phenotype of Alexander disease.

J Med Genet 2019 Apr 19. Epub 2019 Apr 19.

Neurometabolic Diseases Laboratory, Institut d'Investigacio Biomedica de Bellvitge (IDIBELL), L'Hospitalet de Llobregat (Barcelona), Catalonia, Spain

Background: Alexander disease, an autosomal dominant leukodystrophy, is caused by missense mutations in . Although mostly diagnosed in children, associated with severe leukoencephalopathy, milder adult forms also exist.

Methods: A family affected by adult-onset spastic paraplegia underwent neurological examination and cerebral MRI. Read More

View Article

Download full-text PDF

Source
http://jmg.bmj.com/lookup/doi/10.1136/jmedgenet-2018-105959
Publisher Site
http://dx.doi.org/10.1136/jmedgenet-2018-105959DOI Listing
April 2019
1 Read

Sleep myths: an expert-led study to identify false beliefs about sleep that impinge upon population sleep health practices.

Sleep Health 2019 Apr 16. Epub 2019 Apr 16.

Center for Healthful Behavior Change, Department of Population Health, NYU Langone Health.

Introduction: False beliefs about sleep can persist despite contradicting scientific evidence, potentially impairing population health. Identifying commonly held false beliefs lacking an evidence base ("myths") can inform efforts to promote population sleep health.

Method: We compiled a list of potential myths using Internet searches of popular press and scientific literature. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.sleh.2019.02.002DOI Listing

The impact of sex on risk of cardiovascular disease and all-cause mortality in adults with or without diabetes mellitus: A comparison between the U.S. and Japan.

J Diabetes Complications 2019 Apr 1. Epub 2019 Apr 1.

Department of Public Health, Shiga University of Medical Science, Otsu, Shiga, Japan; Center for Epidemiologic Research in Asia, Shiga University of Medical Science, Otsu, Shiga, Japan.

Aims: To test a hypothesis that women with diabetes mellitus (DM) versus those without DM had a significantly higher risk of heart disease (HD), stroke and all-cause mortality than their male counterparts in the U.S. as well as in Japan. Read More

View Article

Download full-text PDF

Source
https://linkinghub.elsevier.com/retrieve/pii/S10568727183131
Publisher Site
http://dx.doi.org/10.1016/j.jdiacomp.2019.03.008DOI Listing
April 2019
1 Read

Bone mineral density in patients with longstanding type 1 diabetes: Results from the Canadian Study of Longevity in Type 1 Diabetes.

J Diabetes Complications 2018 Dec 22. Epub 2018 Dec 22.

Division of Endocrinology and Metabolism, Department of Medicine, University of Toronto, Toronto, Ontario, Canada; Lunenfeld-Tanenbaum Research Institute, Mount Sinai Hospital, Toronto, Ontario, Canada. Electronic address:

Aim: It is currently unclear if longstanding type 1 diabetes (T1D) affects bone mineral density (BMD).

Methods: BMD measured by dual-energy X-ray absorptiometry and history of fragility fracture was determined in 75 T1D participants with ≥50 years of diabetes duration and 75 age- and sex-matched non-diabetic controls. BMD T-scores were determined for the lumbar spine (LS), total hip (TH) and femoral neck (FN). Read More

View Article

Download full-text PDF

Source
https://linkinghub.elsevier.com/retrieve/pii/S10568727183108
Publisher Site
http://dx.doi.org/10.1016/j.jdiacomp.2018.12.009DOI Listing
December 2018
1 Read

Underestimated disease prevalence and severe phenotypes in patients with biallelic variants: A cohort study of primary familial brain calcification from China.

Parkinsonism Relat Disord 2019 Apr 11. Epub 2019 Apr 11.

Department of Neurology, The Second Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, Zhejiang, China. Electronic address:

Background: Primary familial brain calcification (PFBC) is a rare calcifying disorder of the brain with extensive clinical and genetic heterogeneity. Its prevalence is underestimated due to clinical selection bias (compared with symptomatic PFBC patients, asymptomatic ones are less likely to undergo genetic testing).

Methods: A total of 273 PFBC probands were enrolled in a multicenter retrospective cohort study by two different approaches. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.parkreldis.2019.04.009DOI Listing