9,536 results match your criteria Brain[Journal]


Corrigendum.

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Brain 2019 Apr 14. Epub 2019 Apr 14.

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http://dx.doi.org/10.1093/brain/awz103DOI Listing

Acute withdrawal and botulinum toxin A in chronic migraine with medication overuse: a double-blind randomized controlled trial.

Brain 2019 Apr 14. Epub 2019 Apr 14.

Department of Neurology, Leiden University Medical Centre (LUMC), Leiden, The Netherlands.

Botulinum toxin A (BTA) is widely used as treatment of chronic migraine. Efficacy in studies, however, was only modest and likely influenced by unblinding due to BTA-induced removal of forehead wrinkles. Moreover, most study participants were overusing acute headache medications and might have benefitted from withdrawal. Read More

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https://academic.oup.com/brain/advance-article/doi/10.1093/b
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http://dx.doi.org/10.1093/brain/awz052DOI Listing
April 2019
3 Reads

Corrigendum.

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Brain 2019 Apr 13. Epub 2019 Apr 13.

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http://dx.doi.org/10.1093/brain/awz097DOI Listing

A mutation in the major autophagy gene, WIPI2, associated with global developmental abnormalities.

Brain 2019 Apr 10. Epub 2019 Apr 10.

Genetics Unit, Cell Biology and Genetics Research Centre, Molecular and Clinical Sciences Research Institute, St. George's University of London, London, UK.

We describe a large consanguineous pedigree from a remote area of Northern Pakistan, with a complex developmental disorder associated with wide-ranging symptoms, including mental retardation, speech and language impairment and other neurological, psychiatric, skeletal and cardiac abnormalities. We initially carried out a genetic study using the HumanCytoSNP-12 v2.1 Illumina gene chip on nine family members and identified a single region of homozygosity shared amongst four affected individuals on chromosome 7p22 (positions 3059377-5478971). Read More

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http://dx.doi.org/10.1093/brain/awz075DOI Listing
April 2019
2 Reads

Left temporal plane growth predicts language development in newborns with congenital heart disease.

Brain 2019 Apr 8. Epub 2019 Apr 8.

Children's Research Center, University Children's Hospital Zurich, Zurich, Switzerland.

Congenital heart defects are the most common congenital anomalies, accounting for a third of all congenital anomaly cases. While surgical correction dramatically improved survival rates, the lag behind normal neurodevelopment appears to persist. Deficits in higher cognitive functions are particularly common, including developmental delay in communication and oral-motor apraxia. Read More

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https://academic.oup.com/brain/advance-article/doi/10.1093/b
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http://dx.doi.org/10.1093/brain/awz067DOI Listing
April 2019
1 Read

Network-level connectivity is a critical feature distinguishing dystonic tremor and essential tremor.

Brain 2019 Apr 8. Epub 2019 Apr 8.

Department of Neurology, College of Medicine, University of Florida, Gainesville, FL, USA.

Dystonia is a movement disorder characterized by involuntary muscle co-contractions that give rise to disabling movements and postures. A recent expert consensus labelled the incidence of tremor as a core feature of dystonia that can affect body regions both symptomatic and asymptomatic to dystonic features. We are only beginning to understand the neural network-level signatures that relate to clinical features of dystonic tremor. Read More

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http://dx.doi.org/10.1093/brain/awz085DOI Listing
April 2019
2 Reads

The landscape of the mesenchymal signature in brain tumours.

Brain 2019 Apr;142(4):847-866

Duke Preclinical Translational Unit, Duke University Medical Center, Durham, North Carolina.

The complexity of glioblastoma multiforme, the most common and lethal variant of gliomas, is reflected by cellular and molecular heterogeneity at both the inter- and intra-tumoural levels. Molecular subtyping has arisen in the past two decades as a promising strategy to give better predictions of glioblastoma multiforme evolution, common disease pathways, and rational treatment options. The Cancer Genome Atlas network initially identified four molecular subtypes of glioblastoma multiforme: proneural, neural, mesenchymal and classical. Read More

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http://dx.doi.org/10.1093/brain/awz044DOI Listing
April 2019
4 Reads

Editorial.

Brain 2019 Apr;142(4):833

London, UK.

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http://dx.doi.org/10.1093/brain/awz077DOI Listing

Rotatin' the phenotypes.

Brain 2019 Apr;142(4):834-838

Sorbonne Université, UMR-S 1270, F-75005, Paris.

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http://dx.doi.org/10.1093/brain/awz048DOI Listing

Secondary progressive multiple sclerosis and the gut-brain axis.

Authors:
Hartmut Wekerle

Brain 2019 Apr;142(4):838-840

Max-Planck Institute of Neurobiology, and Biomedical Center, LMU Munich.

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http://dx.doi.org/10.1093/brain/awz068DOI Listing

Visual neglect: getting the hemispheres to talk to each other.

Authors:
Paolo Bartolomeo

Brain 2019 Apr;142(4):840-842

Inserm U 1127, CNRS UMR 7225, Sorbonne Université, Institut du Cerveau et de la Moelle épinière, ICM, Hôpital de la Pitié-Salpêtrière, Paris, France.

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http://dx.doi.org/10.1093/brain/awz043DOI Listing

Tau suppresses neuronal activity in vivo, even before tangles form.

Brain 2019 Apr;142(4):843-846

UK Dementia Research Institute, University College London, UK.

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http://dx.doi.org/10.1093/brain/awz060DOI Listing

The debated toxic role of aggregated TDP-43 in amyotrophic lateral sclerosis: a resolution in sight?

Brain 2019 Apr 1. Epub 2019 Apr 1.

UMR 1253, iBRAIN, Université de Tours, INSERM, Tours, France.

Transactive response DNA-binding protein-43 (TDP-43) is an RNA/DNA binding protein that forms phosphorylated and ubiquitinated aggregates in the cytoplasm of motor neurons in amyotrophic lateral sclerosis, which is a hallmark of this disease. Amyotrophic lateral sclerosis is a neurodegenerative condition affecting the upper and lower motor neurons. Even though the aggregative property of TDP-43 is considered a cornerstone of amyotrophic lateral sclerosis, there has been major controversy regarding the functional link between TDP-43 aggregates and cell death. Read More

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http://dx.doi.org/10.1093/brain/awz078DOI Listing
April 2019
2 Reads

Cortico-striatal synchronization in human focal seizures.

Brain 2019 Apr 1. Epub 2019 Apr 1.

Cleveland Clinic, Neurological Institute, Epilepsy Center, Cleveland, 44195 OH, USA.

Although a number of experimental and clinical studies have pointed out participation or an even more prominent role of basal ganglia in focal seizures, the mode of interaction between cortical and striatal signals remains unclear. In the present study, we took stereoelectroencephalographic (SEEG) recordings in drug-resistant epilepsy patients, to qualitatively and quantitatively analyse the ictal striatum activity as well as its synchronization with cerebral cortex. Eleven patients who underwent SEEG evaluation were prospectively included if they fulfilled two inclusion criteria: (i) at least one orthogonal intracerebral electrode contact explored the basal ganglia, in either their putaminal or caudate part; and (ii) at least two SEEG seizures were recorded. Read More

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http://dx.doi.org/10.1093/brain/awz062DOI Listing
April 2019
2 Reads

Variant Creutzfeldt-Jakob disease strain is identical in individuals of two PRNP codon 129 genotypes.

Brain 2019 Apr 1. Epub 2019 Apr 1.

The Roslin Institute and R(D)SVS, University of Edinburgh, Easter Bush, UK, EH25 9RG.

In 2004, a subclinical case of variant Creutzfeldt-Jakob disease in a PRNP 129 methionine/valine heterozygous individual infected via blood transfusion was reported, and we established that the spleen from this individual was infectious. Since host genetics is an important factor in strain modification, the identification of variant Creutzfeldt-Jakob disease infection in a PRNP 129 methionine/valine heterozygous individual has raised the possibility that the properties of the variant Creutzfeldt-Jakob disease agent could change after transmission to this different genetic background and concerns that this could lead to a more virulent strain of variant Creutzfeldt-Jakob disease. The variant Creutzfeldt-Jakob disease strain has to date been characterized only in methionine homozygous individuals, therefore to establish whether the strain characteristics of variant Creutzfeldt-Jakob disease had been modified by the host genotype, spleen material with prion protein deposition from a PRNP 129 methionine/valine individual was inoculated into a panel of wild-type mice. Read More

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http://dx.doi.org/10.1093/brain/awz076DOI Listing

Is an epidemic of sleeplessness increasing the incidence of Alzheimer's disease?

Authors:
Louisa Lyon

Brain 2019 Apr 1. Epub 2019 Apr 1.

London, UK.

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http://dx.doi.org/10.1093/brain/awz087DOI Listing

Outcome prediction models in AQP4-IgG positive neuromyelitis optica spectrum disorders.

Brain 2019 Apr 1. Epub 2019 Apr 1.

Department of Neurology, Mayo Clinic College of Medicine, 200 First Street S.W., Rochester, Minnesota, USA.

Pathogenic antibodies targeting the aquaporin-4 water channel on astrocytes are associated with relapsing inflammatory neuromyelitis optica spectrum disorders. The clinical phenotype is characterized by recurrent episodes of optic neuritis, longitudinally extensive transverse myelitis, area postrema attacks and less common brainstem and cerebral events. Patients often develop major residual disability from these attacks, so early diagnosis and initiation of attackpreventing medications is important. Read More

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https://academic.oup.com/brain/advance-article/doi/10.1093/b
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http://dx.doi.org/10.1093/brain/awz054DOI Listing
April 2019
1 Read
9.196 Impact Factor

Dysfunctional brain dynamics and their origin in Lewy body dementia.

Brain 2019 Apr 1. Epub 2019 Apr 1.

Institute of Neuroscience, Newcastle University, Campus for Ageing and Vitality, Newcastle upon Tyne, NE4 5PL, UK.

Lewy body dementia includes dementia with Lewy bodies and Parkinson's disease dementia and is characterized by transient clinical symptoms such as fluctuating cognition, which might be driven by dysfunction of the intrinsic dynamic properties of the brain. In this context we investigated whole-brain dynamics on a subsecond timescale in 42 Lewy body dementia compared to 27 Alzheimer's disease patients and 18 healthy controls using an EEG microstate analysis in a cross-sectional design. Microstates are transiently stable brain topographies whose temporal characteristics provide insight into the brain's dynamic repertoire. Read More

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http://dx.doi.org/10.1093/brain/awz069DOI Listing
April 2019
3 Reads

Reactivation of nonsense-mediated mRNA decay protects against C9orf72 dipeptide-repeat neurotoxicity.

Brain 2019 Apr 1. Epub 2019 Apr 1.

Institute of Neuroscience, State Key Laboratory of Neuroscience, Key Laboratory of Primate Neurobiology, Shanghai Institutes for Biological Sciences, Chinese Academy of Sciences, Shanghai 200031, China.

Amyotrophic lateral sclerosis is a deleterious neurodegenerative disease without effective treatment options. Recent studies have indicated the involvement of the dysregulation of RNA metabolism in the pathogenesis of amyotrophic lateral sclerosis. Among the various RNA regulatory machineries, nonsense-mediated mRNA decay (NMD) is a stress responsive cellular surveillance system that degrades selected mRNA substrates to prevent the translation of defective or harmful proteins. Read More

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http://dx.doi.org/10.1093/brain/awz070DOI Listing
April 2019
2 Reads

Transcriptomic and genetic analyses reveal potential causal drivers for intractable partial epilepsy.

Brain 2019 Apr 1. Epub 2019 Apr 1.

Department of Molecular Neuroscience, UCL, Institute of Neurology, Queen Square, London, UK.

Mesial temporal lobe epilepsy with hippocampal sclerosis represents the most common epilepsy syndrome in adult patients with medically intractable partial epilepsy. Mesial temporal lobe epilepsy is usually regarded as a polygenic and complex disorder, still poorly understood but probably caused and perpetuated by dysregulation of numerous biological networks and cellular functions. The study of gene expression changes by single nucleotide polymorphisms in regulatory elements (expression quantitative trait loci, eQTLs) has been shown to be a powerful complementary approach to the detection and understanding of risk loci by genome-wide association studies. Read More

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http://dx.doi.org/10.1093/brain/awz074DOI Listing
April 2019
3 Reads

Alpha-synuclein targets GluN2A NMDA receptor subunit causing striatal synaptic dysfunction and visuospatial memory alteration.

Brain 2019 Mar 29. Epub 2019 Mar 29.

Neurological Clinic, Department of Medicine, Hospital Santa Maria della Misericordia, University of Perugia, Perugia, Italy.

Parkinson's disease is a progressive neurodegenerative disorder characterized by altered striatal dopaminergic signalling that leads to motor and cognitive deficits. Parkinson's disease is also characterized by abnormal presence of soluble toxic forms of α-synuclein that, when clustered into Lewy bodies, represents one of the pathological hallmarks of the disease. However, α-synuclein oligomers might also directly affect synaptic transmission and plasticity in Parkinson's disease models. Read More

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http://dx.doi.org/10.1093/brain/awz065DOI Listing

Absence of iron-responsive element-binding protein 2 causes a novel neurodegenerative syndrome.

Brain 2019 Mar 26. Epub 2019 Mar 26.

Division of Clinical and Metabolic Genetics, Department of Paediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.

Disruption of cellular iron homeostasis can contribute to neurodegeneration. In mammals, two iron-regulatory proteins (IRPs) shape the expression of the iron metabolism proteome. Targeted deletion of Ireb2 in a mouse model causes profoundly disordered iron metabolism, leading to functional iron deficiency, anemia, erythropoietic protoporphyria, and a neurodegenerative movement disorder. Read More

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http://dx.doi.org/10.1093/brain/awz072DOI Listing
March 2019
5 Reads

Heterogeneous neuroimaging findings, damage propagation and connectivity: an integrative view.

Brain 2019 Mar 25. Epub 2019 Mar 25.

GCS-fMRI, Koelliker Hospital and Department of Psychology, University of Turin, Turin, Italy.

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http://dx.doi.org/10.1093/brain/awz080DOI Listing

Scalp recorded spike ripples predict seizure risk in childhood epilepsy better than spikes.

Brain 2019 Mar 25. Epub 2019 Mar 25.

Massachusetts General Hospital, Department of Neurology, Boston, MA, USA.

In the past decade, brief bursts of fast oscillations in the ripple range have been identified in the scalp EEG as a promising non-invasive biomarker for epilepsy. However, investigation and clinical application of this biomarker have been limited because standard approaches to identify these brief, low amplitude events are difficult, time consuming, and subjective. Recent studies have demonstrated that ripples co-occurring with epileptiform discharges ('spike ripple events') are easier to detect than ripples alone and have greater pathological significance. Read More

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https://academic.oup.com/brain/advance-article/doi/10.1093/b
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http://dx.doi.org/10.1093/brain/awz059DOI Listing
March 2019
9 Reads

Gene replacement therapy in a model of Charcot-Marie-Tooth 4C neuropathy.

Brain 2019 Mar 25. Epub 2019 Mar 25.

Neuroscience Laboratory and Neurology Clinics, The Cyprus Institute of Neurology and Genetics and Cyprus School of Molecular Medicine, Nicosia, Cyprus.

Charcot-Marie-Tooth disease type 4C is the most common recessively inherited demyelinating neuropathy that results from loss of function mutations in the SH3TC2 gene. Sh3tc2-/- mice represent a well characterized disease model developing early onset progressive peripheral neuropathy with hypo- and demyelination, slowing of nerve conduction velocities and disturbed nodal architecture. The aim of this project was to develop a gene replacement therapy for treating Charcot-Marie-Tooth disease type 4C to rescue the phenotype of the Sh3tc2-/- mouse model. Read More

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https://academic.oup.com/brain/advance-article/doi/10.1093/b
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http://dx.doi.org/10.1093/brain/awz064DOI Listing
March 2019
6 Reads

Reply: Heterogeneous neuroimaging findings, damage propagation and connectivity: an integrative view.

Brain 2019 Mar 25. Epub 2019 Mar 25.

Berenson-Allen Center for Noninvasive Brain Stimulation, Department of Neurology, Beth Israel Deaconess Medical Center, Harvard Medical Center, Boston, MA, USA.

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http://dx.doi.org/10.1093/brain/awz081DOI Listing

Cortical microstructure in the behavioural variant of frontotemporal dementia: looking beyond atrophy.

Brain 2019 Apr;142(4):1121-1133

Memory Unit, Department of Neurology, Hospital de la Santa Creu i Sant Pau, Biomedical Research Institute Sant Pau, Universitat Autònoma de Barcelona, Barcelona, Spain.

Cortical mean diffusivity has been proposed as a novel biomarker for the study of the cortical microstructure in Alzheimer's disease. In this multicentre study, we aimed to assess the cortical microstructural changes in the behavioural variant of frontotemporal dementia (bvFTD); and to correlate cortical mean diffusivity with clinical measures of disease severity and CSF biomarkers (neurofilament light and the soluble fraction beta of the amyloid precursor protein). We included 148 participants with a 3 T MRI and appropriate structural and diffusion weighted imaging sequences: 70 patients with bvFTD and 78 age-matched cognitively healthy controls. Read More

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http://dx.doi.org/10.1093/brain/awz031DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6439330PMC
April 2019
2 Reads

Clinical, pathophysiological and genetic features of motor symptoms in autosomal dominant Alzheimer's disease.

Brain 2019 Mar 20. Epub 2019 Mar 20.

German Center for Neurodegenerative Diseases (DZNE), Munich, Germany.

Owing to an early and marked deposition of amyloid-β in the basal ganglia, autosomal dominant Alzheimer's disease could distinctly involve motor symptoms. Therefore, we aimed to assess the prevalence and characteristics of motor signs in autosomal dominant Alzheimer's disease. Baseline Unified Parkinson Disease Rating Scale part three scores (UPDRS-III) from 433 participants of the Dominantly Inherited Alzheimer's Network observational study were analysed. Read More

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http://dx.doi.org/10.1093/brain/awz050DOI Listing
March 2019
3 Reads
9.196 Impact Factor

A distinct inferential mechanism for delusions in schizophrenia.

Brain 2019 Mar 21. Epub 2019 Mar 21.

Department of Psychiatry, New York State Psychiatric Institute, Columbia University Medical Center, Riverside Drive, New York, NY, USA.

Delusions, a core symptom of psychosis, are false beliefs that are rigidly held with strong conviction despite contradictory evidence. Alterations in inferential processes have long been proposed to underlie delusional pathology, but previous attempts to show this have failed to yield compelling evidence for a specific relationship between inferential abnormalities and delusional severity in schizophrenia. Using a novel, incentivized information-sampling task (a modified version of the beads task), alongside well-characterized decision-making tasks, we sought a mechanistic understanding of delusions in a sample of medicated and unmedicated patients with schizophrenia who exhibited a wide range of delusion severity. Read More

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http://dx.doi.org/10.1093/brain/awz051DOI Listing

Neurological toxicities associated with chimeric antigen receptor T-cell therapy.

Brain 2019 Mar 19. Epub 2019 Mar 19.

Department of Neurology, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, USA.

Chimeric antigen receptor T cell therapy has become an important tool in the treatment of relapsed and refractory malignancy; however, it is associated with significant neurological toxicity. We characterized the neurological toxicity associated with chimeric antigen receptor T-cell therapy in a consecutive series of 100 patients up to 2 months post transfusion, 28 of whom were obtained from chart review and the others by prospective observation. The underlying neoplasms were lymphoma (74%), myeloma (14%), leukaemia (10%), and sarcoma (2%). Read More

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http://dx.doi.org/10.1093/brain/awz053DOI Listing
March 2019
2 Reads
9.196 Impact Factor

Dopamine depletion alters macroscopic network dynamics in Parkinson's disease.

Brain 2019 Apr;142(4):1024-1034

Brain and Mind Centre, The University of Sydney, Sydney, NSW, Australia.

Parkinson's disease is primarily characterized by diminished dopaminergic function; however, the impact of these impairments on large-scale brain dynamics remains unclear. It has been difficult to disentangle the direct effects of Parkinson's disease from compensatory changes that reconfigure the functional signature of the whole brain network. To examine the causal role of dopamine depletion in network-level topology, we investigated time-varying network structure in 37 individuals with idiopathic Parkinson's disease, both ON and OFF dopamine replacement therapy, along with 50 age-matched, healthy control subjects using resting state functional MRI. Read More

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http://dx.doi.org/10.1093/brain/awz034DOI Listing

Electrophysiological and transcriptomic correlates of neuropathic pain in human dorsal root ganglion neurons.

Brain 2019 Mar 19. Epub 2019 Mar 19.

The Departments of Anesthesia and Pain Medicine, The University of Texas MD Anderson Cancer Center, Houston, Texas, USA, 77030, USA.

Neuropathic pain encompasses a diverse array of clinical entities affecting 7-10% of the population, which is challenging to adequately treat. Several promising therapeutics derived from molecular discoveries in animal models of neuropathic pain have failed to translate following unsuccessful clinical trials suggesting the possibility of important cellular-level and molecular differences between animals and humans. Establishing the extent of potential differences between laboratory animals and humans, through direct study of human tissues and/or cells, is likely important in facilitating translation of preclinical discoveries to meaningful treatments. Read More

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http://dx.doi.org/10.1093/brain/awz063DOI Listing
March 2019
9.196 Impact Factor

Multiple sclerosis: effect of beta interferon treatment on survival.

Brain 2019 Mar 18. Epub 2019 Mar 18.

Faculty of Medicine (Neurology) and the Djavad Mowafaghian Centre for Brain Health, University of British Columbia, Vancouver, British Columbia, Canada.

Worldwide, the beta interferons remain the most commonly prescribed disease-modifying drugs for multiple sclerosis. However, it is unclear if they alter survival. We investigated the association between beta interferon and mortality in the 'real-world' setting. Read More

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http://dx.doi.org/10.1093/brain/awz055DOI Listing
March 2019
3 Reads

Heterogeneous clinical phenotypes and cerebral malformations reflected by rotatin cellular dynamics.

Brain 2019 Apr;142(4):867-884

Department of Clinical Genetics, Erasmus University Medical Center (Erasmus MC), CA Rotterdam, The Netherlands.

Recessive mutations in RTTN, encoding the protein rotatin, were originally identified as cause of polymicrogyria, a cortical malformation. With time, a wide variety of other brain malformations has been ascribed to RTTN mutations, including primary microcephaly. Rotatin is a centrosomal protein possibly involved in centriolar elongation and ciliogenesis. Read More

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http://dx.doi.org/10.1093/brain/awz045DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6439326PMC
April 2019
2 Reads

Corrigendum.

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Brain 2019 Mar 15. Epub 2019 Mar 15.

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http://dx.doi.org/10.1093/brain/awz061DOI Listing

Dissociating thalamic alterations in alcohol use disorder defines specificity of Korsakoff's syndrome.

Brain 2019 Mar 15. Epub 2019 Mar 15.

Normandie Univ, UNICAEN, PSL Research University, EPHE, INSERM, U1077, CHU de Caen, Cyceron, Neuropsychologie et Imagerie de la Mémoire Humaine, Caen, France.

The thalamus, a relay organ consisting of several nuclei, is shared between the frontocerebellar circuit and the Papez circuit, both particularly affected in alcohol use disorder. Shrinkage of the thalamus is known to be more severe in alcoholics with Korsakoff's syndrome than in those without neurological complications (uncomplicated alcoholics). While thalamic atrophy could thus be a key factor explaining amnesia in Korsakoff's syndrome, the loci and nature of alterations within the thalamic nuclei in uncomplicated alcoholics and alcoholics with Korsakoff's syndrome remains unclear. Read More

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http://dx.doi.org/10.1093/brain/awz056DOI Listing
March 2019
2 Reads

A year-long immune profile of the systemic response in acute stroke survivors.

Brain 2019 Apr;142(4):978-991

Department of Anesthesiology, Perioperative and Pain Medicine, Stanford School of Medicine, CA, USA.

Stroke is a leading cause of cognitive impairment and dementia, but the mechanisms that underlie post-stroke cognitive decline are not well understood. Stroke produces profound local and systemic immune responses that engage all major innate and adaptive immune compartments. However, whether the systemic immune response to stroke contributes to long-term disability remains ill-defined. Read More

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https://academic.oup.com/brain/advance-article/doi/10.1093/b
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http://dx.doi.org/10.1093/brain/awz022DOI Listing
April 2019
12 Reads

Clinical benefit of thrombectomy in stroke patients with low ASPECTS is mediated by oedema reduction.

Brain 2019 Mar 11. Epub 2019 Mar 11.

Department of Diagnostic and Interventional Neuroradiology, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.

The impact of endovascular vessel recanalization on patients with a low initial Alberta Stroke Program Early Computer Tomography Score (ASPECTS) is still uncertain. We hypothesized that vessel recanalization leads to an improvement in mortality and degree of disability by reducing brain oedema and malignant mass effect. In this multicentre observational study, patients with acute ischaemic stroke due to large vessel occlusion in the anterior circulation and an ASPECTS of ≤ 5 were analysed. Read More

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http://dx.doi.org/10.1093/brain/awz057DOI Listing
March 2019
1 Read

Association of variants in HTRA1 and NOTCH3 with MRI-defined extremes of cerebral small vessel disease in older subjects.

Brain 2019 Apr;142(4):1009-1023

University of Bordeaux, Inserm, Bordeaux Population Health Research Center, team VINTAGE, UMR 1219, F-33000 Bordeaux, France.

We report a composite extreme phenotype design using distribution of white matter hyperintensities and brain infarcts in a population-based cohort of older persons for gene-mapping of cerebral small vessel disease. We demonstrate its application in the 3C-Dijon whole exome sequencing (WES) study (n = 1924, nWESextremes = 512), with both single variant and gene-based association tests. We used other population-based cohort studies participating in the CHARGE consortium for replication, using whole exome sequencing (nWES = 2,868, nWESextremes = 956) and genome-wide genotypes (nGW = 9924, nGWextremes = 3308). Read More

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http://dx.doi.org/10.1093/brain/awz024DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6439324PMC
April 2019
2 Reads
9.196 Impact Factor

Perioperative rupture risk of unruptured intracranial aneurysms in cardiovascular surgery.

Brain 2019 Mar 8. Epub 2019 Mar 8.

Department of Anaesthesiology and Pain Medicine, Laboratory for Perioperative Outcomes Analysis and Research, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea.

Although unruptured intracranial aneurysms are increasingly being diagnosed incidentally, perioperative rupture risk of unruptured intracranial aneurysm in patients undergoing cardiovascular surgery remains unclear. Therefore, we conducted an observational study to assess the prevalence and perioperative rupture risk of unruptured intracranial aneurysm in patients undergoing cardiovascular surgery. Adult patients (n = 4864) who underwent cardiovascular surgery between January 2010 and December 2016 were included. Read More

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http://dx.doi.org/10.1093/brain/awz058DOI Listing
March 2019
2 Reads

The metabolic brain signature of cognitive resilience in the 80+: beyond Alzheimer pathologies.

Brain 2019 Apr;142(4):1134-1147

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

Research into cognitive resilience imaging markers may help determine the clinical significance of Alzheimer's disease pathology among older adults over 80 years (80+). In this study, we aimed to identify a fluorodeoxyglucose (FDG)-PET based imaging marker of cognitive resilience. We identified 457 participants ≥ 80 years old (357 cognitively unimpaired, 118 cognitively impaired at baseline, mean age of 83. Read More

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https://academic.oup.com/brain/advance-article/doi/10.1093/b
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http://dx.doi.org/10.1093/brain/awz037DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6439329PMC
April 2019
3 Reads

Probabilistic mapping of the antidystonic effect of pallidal neurostimulation: a multicentre imaging study.

Brain 2019 Mar 8. Epub 2019 Mar 8.

Julius-Maximilians-University Würzburg, Department of Neurology, Germany.

Deep brain stimulation of the internal globus pallidus is a highly effective and established therapy for primary generalized and cervical dystonia, but therapeutic success is compromised by a non-responder rate of up to 25%, even in carefully-selected groups. Variability in electrode placement and inappropriate stimulation settings may account for a large proportion of this outcome variability. Here, we present probabilistic mapping data on a large cohort of patients collected from several European centres to resolve the optimal stimulation volume within the pallidal region. Read More

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http://dx.doi.org/10.1093/brain/awz046DOI Listing
March 2019
3 Reads

Optical coherence tomography: a window to the optic nerve in clinically isolated syndrome.

Brain 2019 Apr;142(4):903-915

University of Lille (UMR1171), Department of Neuroradiology, Roger Salengro Hospital, Lille, France.

In this study, we aimed to evaluate the association of asymptomatic optic nerve demyelinating lesion in patients presenting a clinically isolated syndrome with the asymptomatic retinal neuro-axonal loss previously reported at clinically isolated syndrome. We prospectively recruited 66 patients presenting a clinically isolated syndrome and 66 healthy control subjects matched according to age and gender. All patients underwent brain magnetic resonance imaging including 3D-double inversion recovery (DIR) sequence, optical coherence tomography examination and visual function evaluation, at 2. Read More

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http://dx.doi.org/10.1093/brain/awz038DOI Listing
April 2019
6 Reads

In vivo imaging reveals reduced activity of neuronal circuits in a mouse tauopathy model.

Brain 2019 Apr;142(4):1051-1062

Department for Translational Brain Research, German Center for Neurodegenerative Diseases (DZNE), Munich, Germany.

Pathological alterations of tau protein play a significant role in the emergence and progression of neurodegenerative disorders. Tauopathies are characterized by detachment of the tau protein from neuronal microtubules, and its subsequent aberrant hyperphosphorylation, aggregation and cellular distribution. The exact nature of tau protein species causing neuronal malfunction and degeneration is still unknown. Read More

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http://dx.doi.org/10.1093/brain/awz035DOI Listing
April 2019
2 Reads

Cerebral perfusion changes in presymptomatic genetic frontotemporal dementia: a GENFI study.

Brain 2019 Apr;142(4):1108-1120

Hurvitz Brain Sciences Program, Sunnybrook Research Institute, University of Toronto, Toronto, Canada.

Genetic forms of frontotemporal dementia are most commonly due to mutations in three genes, C9orf72, GRN or MAPT, with presymptomatic carriers from families representing those at risk. While cerebral blood flow shows differences between frontotemporal dementia and other forms of dementia, there is limited evidence of its utility in presymptomatic stages of frontotemporal dementia. This study aimed to delineate the cerebral blood flow signature of presymptomatic, genetic frontotemporal dementia using a voxel-based approach. Read More

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https://academic.oup.com/brain/advance-article/doi/10.1093/b
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http://dx.doi.org/10.1093/brain/awz039DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6439322PMC
April 2019
8 Reads

Reply: Biallelic POLR3A variants confirmed as a frequent cause of hereditary ataxia and spastic paraparesis.

Brain 2019 Apr;142(4):e13

Division for Neurogenetics and Molecular Psychiatry, Department of Psychiatry and Psychotherapy, Medical Faculty, University of Cologne, Cologne, Germany.

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http://dx.doi.org/10.1093/brain/awz042DOI Listing

Corrigendum.

Authors:

Brain 2019 Mar 5. Epub 2019 Mar 5.

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http://dx.doi.org/10.1093/brain/awz049DOI Listing

Charcot's capricious scribe.

Authors:
A J Lees

Brain 2019 Apr;142(4):1161-1163

The National Hospital Queen Square London, UK.

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http://dx.doi.org/10.1093/brain/awz047DOI Listing

Editorial.

Brain 2019 Mar;142(3):489

London, UK.

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http://dx.doi.org/10.1093/brain/awz028DOI Listing