当前期刊: Brain Go to current issue    加入关注   
显示样式:        排序: IF: - GO 导出
我的关注
我的收藏
您暂时未登录!
登录
  • The role of genetics in Parkinson’s disease: a large cohort study in Chinese mainland population
    Brain (IF 11.337) Pub Date : 2020-07-02
    Yuwen Zhao; Lixia Qin; Hongxu Pan; Zhenhua Liu; Li Jiang; Yan He; Qian Zeng; Xun Zhou; Xiaoxia Zhou; Yangjie Zhou; Zhenghuan Fang; Zheng Wang; Yaqin Xiang; Honglan Yang; Yige Wang; Kailin Zhang; Rui Zhang; Runcheng He; Xiaoting Zhou; Zhou Zhou; Nannan Yang; Dongxiao Liang; Juan Chen; Xuxiang Zhang; Yao Zhou; Hongli Liu; Penghui Deng; Kun Xu; Ke Xu; Chaojun Zhou; Junfei Zhong; Qian Xu; Qiying Sun; Bin

    This study aimed to determine the mutational spectrum of familial Parkinson’s disease and sporadic early-onset Parkinson’s disease (sEOPD) in a mainland Chinese population and the clinical features of mutation carriers. We performed multiplex ligation-dependent probe amplification assays and whole-exome sequencing for 1676 unrelated patients with Parkinson’s disease in a mainland Chinese population

    更新日期:2020-07-02
  • La Folie des Grandeurs
    Brain (IF 11.337) Pub Date : 2020-07-02
    A J Lees

    This scientific commentary refers to ‘Nogo receptor decoy promotes recovery and corticospinal growth in non-human primate spinal cord injury’, by Wang et al. (doi:10.1093/brain/awaa116).

    更新日期:2020-07-02
  • Bringing proportional recovery into proportion: Bayesian modelling of post-stroke motor impairment
    Brain (IF 11.337) Pub Date : 2020-06-29
    Anna K Bonkhoff; Thomas Hope; Danilo Bzdok; Adrian G Guggisberg; Rachel L Hawe; Sean P Dukelow; Anne K Rehme; Gereon R Fink; Christian Grefkes; Howard Bowman

    Accurate predictions of motor impairment after stroke are of cardinal importance for the patient, clinician, and healthcare system. More than 10 years ago, the proportional recovery rule was introduced by promising that high-fidelity predictions of recovery following stroke were based only on the initially lost motor function, at least for a specific fraction of patients. However, emerging evidence

    更新日期:2020-06-30
  • Polyadenylation of mRNA as a novel regulatory mechanism of gene expression in temporal lobe epilepsy
    Brain (IF 11.337) Pub Date : 2020-06-28
    Alberto Parras; Laura de Diego-Garcia; Mariana Alves; Edward Beamer; Giorgia Conte; Eva M Jimenez-Mateos; James Morgan; Ivana Ollà; Yasmina Hernandez-Santana; Norman Delanty; Michael A Farrell; Donncha F O’Brien; Alejandro Ocampo; David C Henshall; Raúl Méndez; José J Lucas; Tobias Engel

    Temporal lobe epilepsy is the most common and refractory form of epilepsy in adults. Gene expression within affected structures such as the hippocampus displays extensive dysregulation and is implicated as a central pathomechanism. Post-transcriptional mechanisms are increasingly recognized as determinants of the gene expression landscape, but key mechanisms remain unexplored. Here we show, for first

    更新日期:2020-06-30
  • Reply: Heterogeneity of the circle of Willis and its implication in hippocampal perfusion
    Brain (IF 11.337) Pub Date : 2020-06-28
    Valentina Perosa; Emrah Düzel; Stefanie Schreiber

    This scientific commentary refers to ‘Nogo receptor decoy promotes recovery and corticospinal growth in non-human primate spinal cord injury’, by Wang et al. (doi:10.1093/brain/awaa116).

    更新日期:2020-06-28
  • Heterogeneity of the circle of Willis and its implication in hippocampal perfusion
    Brain (IF 11.337) Pub Date : 2020-06-28
    Jose Gutierrez

    This scientific commentary refers to ‘Nogo receptor decoy promotes recovery and corticospinal growth in non-human primate spinal cord injury’, by Wang et al. (doi:10.1093/brain/awaa116).

    更新日期:2020-06-28
  • MRI signatures of brain age and disease over the lifespan based on a deep brain network and 14 468 individuals worldwide
    Brain (IF 11.337) Pub Date : 2020-06-27
    Vishnu M Bashyam; Guray Erus; Jimit Doshi; Mohamad Habes; Ilya Nasralah; Monica Truelove-Hill; Dhivya Srinivasan; Liz Mamourian; Raymond Pomponio; Yong Fan; Lenore J Launer; Colin L Masters; Paul Maruff; Chuanjun Zhuo; Henry Völzke; Sterling C Johnson; Jurgen Fripp; Nikolaos Koutsouleris; Theodore D Satterthwaite; Daniel Wolf; Raquel E Gur; Ruben C Gur; John Morris; Marilyn S Albert; Hans J Grabe;

    Deep learning has emerged as a powerful approach to constructing imaging signatures of normal brain ageing as well as of various neuropathological processes associated with brain diseases. In particular, MRI-derived brain age has been used as a comprehensive biomarker of brain health that can identify both advanced and resilient ageing individuals via deviations from typical brain ageing. Imaging signatures

    更新日期:2020-06-27
  • Sex-dependent autosomal effects on clinical progression of Alzheimer’s disease
    Brain (IF 11.337) Pub Date : 2020-06-27
    Chun Chieh Fan; Sarah J Banks; Wesley K Thompson; Chi-Hua Chen; Linda K McEvoy; Chin Hong Tan; Walter Kukull; David A Bennett; Lindsay A Farrer; Richard Mayeux; Gerard D Schellenberg; Ole A Andreassen; Rahul Desikan; Anders M Dale

    Sex differences in the manifestations of Alzheimer’s disease are under intense investigation. Despite the emerging importance of polygenic predictions for Alzheimer’s disease, sex-dependent polygenic effects have not been demonstrated. Here, using a sex crossover analysis, we show that sex-dependent autosomal genetic effects on Alzheimer’s disease can be revealed by characterizing disease progress

    更新日期:2020-06-27
  • Habituation of auditory startle reflex is a new sign of minimally conscious state
    Brain (IF 11.337) Pub Date : 2020-06-25
    Bertrand Hermann; Amina Ben Salah; Vincent Perlbarg; Mélanie Valente; Nadya Pyatigorskaya; Marie-Odile Habert; Federico Raimondo; Johan Stender; Damien Galanaud; Aurélie Kas; Louis Puybasset; Pauline Perez; Jacobo D Sitt; Benjamin Rohaut; Lionel Naccache

    Neurological examination of non-communicating patients relies on a few decisive items that enable the crucial distinction between vegetative state (VS)—also coined unresponsive wakefulness syndrome (UWS)—and minimally conscious state. Over the past 10 years, this distinction has proven its diagnostic value as well as its important prognostic value on consciousness recovery. However, clinicians are

    更新日期:2020-06-25
  • Modelling and treating GRIN2A developmental and epileptic encephalopathy in mice
    Brain (IF 11.337) Pub Date : 2020-06-24
    Ariadna Amador; Christopher D Bostick; Heather Olson; Jurrian Peters; Chad R Camp; Daniel Krizay; Wenjuan Chen; Wei Han; Weiting Tang; Ayla Kanber; Sukhan Kim; JiaJie Teoh; Megha Sah; Sabrina Petri; Hunki Paek; Ana Kim; Cathleen M Lutz; Mu Yang; Scott J Myers; Subhrajit Bhattacharya; Hongjie Yuan; David B Goldstein; Annapurna Poduri; Michael J Boland; Stephen F Traynelis; Wayne N Frankel

    NMDA receptors play crucial roles in excitatory synaptic transmission. Rare variants in GRIN2A encoding the GluN2A subunit are associated with a spectrum of disorders, ranging from mild speech and language delay to intractable neurodevelopmental disorders, including but not limited to developmental and epileptic encephalopathy. A de novo missense variant, p.Ser644Gly, was identified in a child with

    更新日期:2020-06-24
  • Molecular signature of slowly expanding lesions in progressive multiple sclerosis
    Brain (IF 11.337) Pub Date : 2020-06-24
    Katharina Jäckle; Thomas Zeis; Nicole Schaeren-Wiemers; Andreas Junker; Franziska van der Meer; Nadine Kramann; Christine Stadelmann; Wolfgang Brück

    Multiple sclerosis is an immune-mediated chronic inflammatory disease of the CNS that leads to demyelinated lesions in the grey and white matter. Inflammatory, active demyelinating white matter lesions predominate in the relapsing-remitting disease stages, whereas in the progressive stage the so-called slowly expanding lesion is characteristic. These lesions show an accumulation of macrophages/microglia

    更新日期:2020-06-24
  • A role of the frontotemporal lobar degeneration risk factor TMEM106B in myelination.
    Brain (IF 11.337) Pub Date : 2020-06-23
    Tuancheng Feng,Rory R Sheng,Santiago Solé-Domènech,Mohammed Ullah,Xiaolai Zhou,Christina S Mendoza,Laura Camila Martinez Enriquez,Isabel Iscol Katz,Daniel H Paushter,Peter M Sullivan,Xiaochun Wu,Frederick R Maxfield,Fenghua Hu

    TMEM106B encodes a lysosomal membrane protein and was initially identified as a risk factor for frontotemporal lobar degeneration. Recently, a dominant D252N mutation in TMEM106B was shown to cause hypomyelinating leukodystrophy. However, how TMEM106B regulates myelination is still unclear. Here we show that TMEM106B is expressed and localized to the lysosome compartment in oligodendrocytes. TMEM106B

    更新日期:2020-06-23
  • Longitudinal neuroimaging biomarkers differ across Alzheimer's disease phenotypes.
    Brain (IF 11.337) Pub Date : 2020-06-23
    Irene Sintini,Jonathan Graff-Radford,Matthew L Senjem,Christopher G Schwarz,Mary M Machulda,Peter R Martin,David T Jones,Bradley F Boeve,David S Knopman,Kejal Kantarci,Ronald C Petersen,Clifford R Jack,Val J Lowe,Keith A Josephs,Jennifer L Whitwell

    Alzheimer’s disease can present clinically with either the typical amnestic phenotype or with atypical phenotypes, such as logopenic progressive aphasia and posterior cortical atrophy. We have recently described longitudinal patterns of flortaucipir PET uptake and grey matter atrophy in the atypical phenotypes, demonstrating a longitudinal regional disconnect between flortaucipir accumulation and brain

    更新日期:2020-06-23
  • Epilepsy-causing STX1B mutations translate altered protein functions into distinct phenotypes in mouse neurons.
    Brain (IF 11.337) Pub Date : 2020-06-23
    Gülçin Vardar,Fabian Gerth,Xiao Jakob Schmitt,Pia Rautenstrauch,Thorsten Trimbuch,Julian Schubert,Holger Lerche,Christian Rosenmund,Christian Freund

    Syntaxin 1B (STX1B) is a core component of the N-ethylmaleimide-sensitive factor attachment protein receptor (SNARE) complex that is critical for the exocytosis of synaptic vesicles in the presynapse. SNARE-mediated vesicle fusion is assisted by Munc18-1, which recruits STX1B in the auto-inhibited conformation, while Munc13 catalyses the fast and efficient pairing of helices during SNARE complex formation

    更新日期:2020-06-23
  • Post-stroke deficit prediction from lesion and indirect structural and functional disconnection.
    Brain (IF 11.337) Pub Date : 2020-06-23
    Alessandro Salvalaggio,Michele De Filippo De Grazia,Marco Zorzi,Michel Thiebaut de Schotten,Maurizio Corbetta

    Behavioural deficits in stroke reflect both structural damage at the site of injury, and widespread network dysfunction caused by structural, functional, and metabolic disconnection. Two recent methods allow for the estimation of structural and functional disconnection from clinical structural imaging. This is achieved by embedding a patient’s lesion into an atlas of functional and structural connections

    更新日期:2020-06-23
  • Multiple sclerosis lesions in motor tracts from brain to cervical cord: spatial distribution and correlation with disability.
    Brain (IF 11.337) Pub Date : 2020-06-23
    Anne Kerbrat,Charley Gros,Atef Badji,Elise Bannier,Francesca Galassi,Benoit Combès,Raphaël Chouteau,Pierre Labauge,Xavier Ayrignac,Clarisse Carra-Dalliere,Josefina Maranzano,Tobias Granberg,Russell Ouellette,Leszek Stawiarz,Jan Hillert,Jason Talbott,Yasuhiko Tachibana,Masaaki Hori,Kouhei Kamiya,Lydia Chougar,Jennifer Lefeuvre,Daniel S Reich,Govind Nair,Paola Valsasina,Maria A Rocca,Massimo Filippi

    Despite important efforts to solve the clinico-radiological paradox, correlation between lesion load and physical disability in patients with multiple sclerosis remains modest. One hypothesis could be that lesion location in corticospinal tracts plays a key role in explaining motor impairment. In this study, we describe the distribution of lesions along the corticospinal tracts from the cortex to the

    更新日期:2020-06-23
  • The structural connectivity of subthalamic deep brain stimulation correlates with impulsivity in Parkinson's.
    Brain (IF 11.337) Pub Date : 2020-06-22
    Philip E Mosley,Saee Paliwal,Katherine Robinson,Terry Coyne,Peter Silburn,Marc Tittgemeyer,Klaas E Stephan,Alistair Perry,Michael Breakspear

    Subthalamic deep brain stimulation (STN-DBS) for Parkinson’s disease treats motor symptoms and improves quality of life, but can be complicated by adverse neuropsychiatric side-effects, including impulsivity. Several clinically important questions remain unclear: can ‘at-risk’ patients be identified prior to DBS; do neuropsychiatric symptoms relate to the distribution of the stimulation field; and

    更新日期:2020-06-23
  • Epilepsy subtype-specific copy number burden observed in a genome-wide study of 17 458 subjects.
    Brain (IF 11.337) Pub Date : 2020-06-22
    Lisa-Marie Niestroj,Eduardo Perez-Palma,Daniel P Howrigan,Yadi Zhou,Feixiong Cheng,Elmo Saarentaus,Peter Nürnberg,Remi Stevelink,Mark J Daly,Aarno Palotie,Dennis Lal,

    Cytogenic testing is routinely applied in most neurological centres for severe paediatric epilepsies. However, which characteristics of copy number variants (CNVs) confer most epilepsy risk and which epilepsy subtypes carry the most CNV burden, have not been explored on a genome-wide scale. Here, we present the largest CNV investigation in epilepsy to date with 10 712 European epilepsy cases and 6746

    更新日期:2020-06-22
  • Synonymous variants in holoprosencephaly alter codon usage and impact the Sonic Hedgehog protein.
    Brain (IF 11.337) Pub Date : 2020-06-15
    Artem Kim,Jérôme Le Douce,Farah Diab,Monika Ferovova,Christèle Dubourg,Sylvie Odent,Valérie Dupé,Véronique David,Luis Diambra,Erwan Watrin,Marie de Tayrac

    Synonymous single nucleotide variants (sSNVs) have been implicated in various genetic disorders through alterations of pre-mRNA splicing, mRNA structure and miRNA regulation. However, their impact on synonymous codon usage and protein translation remains to be elucidated in clinical context. Here, we explore the functional impact of sSNVs in the Sonic Hedgehog (SHH) gene, identified in patients affected

    更新日期:2020-06-22
  • Inhibiting an inhibitor: a decoy to recover dexterity after spinal cord injury.
    Brain (IF 11.337) Pub Date : 2020-06-15
    Elizabeth J Bradbury,Raquel Oliveira

    This scientific commentary refers to ‘Nogo receptor decoy promotes recovery and corticospinal growth in non-human primate spinal cord injury’, by Wang et al. (doi:10.1093/brain/awaa116).

    更新日期:2020-06-15
  • Synaptic autoimmunity: new insights into LGI1 antibody-mediated neuronal dysfunction.
    Brain (IF 11.337) Pub Date : 2020-06-15
    Anastasia Zekeridou,Sean J Pittock

    This scientific commentary refers to ‘Distinctive binding properties of human monoclonal LGI1 autoantibodies determine pathogenic mechanisms’, by Ramberger et al. (doi:10.1093/brain/awaa104).

    更新日期:2020-06-15
  • Unravelling the mechanisms of blood-brain barrier dysfunction in repetitive mild head injury.
    Brain (IF 11.337) Pub Date : 2020-06-15
    Jeffrey B Ware,Danielle K Sandsmark,Ramon Diaz-Arrastia

    This scientific commentary refers to ‘Slow blood-to-brain transport underlies enduring barrier dysfunction in American football players’, by Veksler et al. (doi:10.1093/brain/awaa140).

    更新日期:2020-06-15
  • TMEM106B, an unexpected point of contact between FTD, ageing and a hypomyelination disorder.
    Brain (IF 11.337) Pub Date : 2020-06-15
    James J Doyle,J Alex Parker,Andrew Bateman

    This scientific commentary refers to ‘Loss of TMEM106B leads to myelination deficits: implications for frontotemporal dementia treatment strategies’, by Zhou et al. (doi:10.1093/brain/awaa141).

    更新日期:2020-06-15
  • Editorial.
    Brain (IF 11.337) Pub Date : 2020-06-15
    Dimitri M Kullmann

    ‘How true to Nature, even to their most trivial details, almost every character and every incident in the works of the great novelist whose dust has just been laid to rest, really were, is best known to those whose tastes or whose duties led them to frequent the paths of life from which Dickens delighted to draw. But none, except medical men, can judge of the rare fidelity with which he followed the

    更新日期:2020-06-15
  • Advanced MRI techniques for transcranial high intensity focused ultrasound targeting.
    Brain (IF 11.337) Pub Date : 2020-06-15
    Bhavya R Shah,Vance T Lehman,Timothy J Kaufmann,Daniel Blezek,Jeff Waugh,Darren Imphean,Frank F Yu,Toral R Patel,Shilpa Chitnis,Richard B Dewey,Joseph A Maldjian,Rajiv Chopra

    Magnetic resonance guided high intensity focused ultrasound is a novel, non-invasive, image-guided procedure that is able to ablate intracranial tissue with submillimetre precision. It is currently FDA approved for essential tremor and tremor dominant Parkinson’s disease. The aim of this update is to review the limitations of current landmark-based targeting techniques of the ventral intermediate nucleus

    更新日期:2020-06-15
  • Excess Lipin enzyme activity contributes to TOR1A recessive disease and DYT-TOR1A dystonia.
    Brain (IF 11.337) Pub Date : 2020-06-15
    Ana Cascalho,Joyce Foroozandeh,Lise Hennebel,Jef Swerts,Christine Klein,Stef Rous,Beatriz Dominguez Gonzalez,Antonio Pisani,Maria Meringolo,Sandra F Gallego,Patrik Verstreken,Philip Seibler,Rose E Goodchild

    TOR1A/TorsinA mutations cause two incurable diseases: a recessive congenital syndrome that can be lethal, and a dominantly-inherited childhood-onset dystonia (DYT-TOR1A). TorsinA has been linked to phosphatidic acid lipid metabolism in Drosophila melanogaster. Here we evaluate the role of phosphatidic acid phosphatase (PAP) enzymes in TOR1A diseases using induced pluripotent stem cell-derived neurons

    更新日期:2020-06-15
  • Pathogenic SREK1 decrease in Huntington's disease lowers TAF1 mimicking X-linked dystonia parkinsonism.
    Brain (IF 11.337) Pub Date : 2020-06-12
    Ivó H Hernández,Jorge R Cabrera,María Santos-Galindo,Manuel Sánchez-Martín,Verónica Domínguez,Ramón García-Escudero,María J Pérez-Álvarez,Belén Pintado,José J Lucas

    Huntington’s disease and X-linked dystonia parkinsonism are two monogenic basal ganglia model diseases. Huntington’s disease is caused by a polyglutamine-encoding CAG repeat expansion in the Huntingtin (HTT) gene leading to several toxic interactions of both the expanded CAG-containing mRNA and the polyglutamine-containing protein, while X-linked dystonia parkinsonism is caused by a retrotransposon

    更新日期:2020-06-12
  • GGC repeat expansion in NOTCH2NLC is rare in European patients with essential tremor.
    Brain (IF 11.337) Pub Date : 2020-06-09
    Wai Yan Yau,Emer O'Connor,Zhongbo Chen,Jana Vandrovcova,Nicholas W Wood,Henry Houlden

    This scientific commentary refers to ‘Redefining the multidimensional clinical phenotypes of frontotemporal lobar degeneration syndromes’, by Murley etal. (doi:10.1093/brain/awaa097).

    更新日期:2020-06-09
  • Dickens and neurology.
    Brain (IF 11.337) Pub Date : 2020-06-05
    A J Larner

    更新日期:2020-06-05
  • Loss of TMEM106B leads to myelination deficits: implications for frontotemporal dementia treatment strategies.
    Brain (IF 11.337) Pub Date : 2020-06-05
    Xiaolai Zhou,Alexandra M Nicholson,Yingxue Ren,Mieu Brooks,Peizhou Jiang,Aamir Zuberi,Hung Nguyen Phuoc,Ralph B Perkerson,Billie Matchett,Tammee M Parsons,NiCole A Finch,Wenlang Lin,Wenhui Qiao,Monica Castanedes-Casey,Virginia Phillips,Ariston L Librero,Yan Asmann,Guojun Bu,Melissa E Murray,Cathleen Lutz,Dennis W Dickson,Rosa Rademakers

    Genetic variants that define two distinct haplotypes at the TMEM106B locus have been implicated in multiple neurodegenerative diseases and in healthy brain ageing. In frontotemporal dementia (FTD), the high expressing TMEM106B risk haplotype was shown to increase susceptibility for FTD with TDP-43 inclusions (FTD-TDP) and to modify disease penetrance in progranulin mutation carriers (FTD-GRN). To elucidate

    更新日期:2020-06-05
  • Slow blood-to-brain transport underlies enduring barrier dysfunction in American football players.
    Brain (IF 11.337) Pub Date : 2020-05-28
    Ronel Veksler,Udi Vazana,Yonatan Serlin,Ofer Prager,Jonathan Ofer,Nofar Shemen,Andrew M Fisher,Olga Minaeva,Ning Hua,Rotem Saar-Ashkenazy,Itay Benou,Tammy Riklin-Raviv,Ellen Parker,Griffin Mumby,Lyna Kamintsky,Steven Beyea,Chris V Bowen,Ilan Shelef,Eoin O'Keeffe,Matthew Campbell,Daniela Kaufer,Lee E Goldstein,Alon Friedman

    Repetitive mild traumatic brain injury in American football players has garnered increasing public attention following reports of chronic traumatic encephalopathy, a progressive tauopathy. While the mechanisms underlying repetitive mild traumatic brain injury-induced neurodegeneration are unknown and antemortem diagnostic tests are not available, neuropathology studies suggest a pathogenic role for

    更新日期:2020-05-28
  • Increased perception-action binding in Tourette syndrome.
    Brain (IF 11.337) Pub Date : 2020-05-28
    Maximilian Kleimaker,Adam Takacs,Giulia Conte,Rebecca Onken,Julius Verrel,Tobias Bäumer,Alexander Münchau,Christian Beste

    Gilles de la Tourette syndrome is a multifaceted neurodevelopmental disorder characterized by multiple motor and vocal tics. Research in Tourette syndrome has traditionally focused on the motor system. However, there is increasing evidence that perceptual and cognitive processes play a crucial role as well. Against this background it has been reasoned that processes linking perception and action might

    更新日期:2020-05-28
  • NAD(P)HX dehydratase protein-truncating mutations are associated with neurodevelopmental disorder exacerbated by acute illness.
    Brain (IF 11.337) Pub Date : 2020-05-27
    Nurun Nahar Borna,Yoshihito Kishita,Jiro Abe,Takuro Furukawa,Minako Ogawa-Tominaga,Takuya Fushimi,Atsuko Imai-Okazaki,Atsuhito Takeda,Akira Ohtake,Kei Murayama,Yasushi Okazaki

    This scientific commentary refers to ‘Redefining the multidimensional clinical phenotypes of frontotemporal lobar degeneration syndromes’, by Murley etal. (doi:10.1093/brain/awaa097).

    更新日期:2020-05-27
  • Reply: NAD(P)HX dehydratase protein-truncating mutations are associated with neurodevelopmental disorder exacerbated by acute illness.
    Brain (IF 11.337) Pub Date : 2020-05-27
    Nicole J Van Bergen,Carole L Linster,John Christodoulou

    This scientific commentary refers to ‘Redefining the multidimensional clinical phenotypes of frontotemporal lobar degeneration syndromes’, by Murley etal. (doi:10.1093/brain/awaa097).

    更新日期:2020-05-27
  • Essential tremor as the early symptom of NOTCH2NLC gene-related repeat expansion disorder.
    Brain (IF 11.337) Pub Date : 2020-05-25
    Hao Chen,Likui Lu,Bin Wang,Xiaodong Hua,Bo Wan,Miao Sun,Xingshun Xu

    This scientific commentary refers to ‘Redefining the multidimensional clinical phenotypes of frontotemporal lobar degeneration syndromes’, by Murley etal. (doi:10.1093/brain/awaa097).

    更新日期:2020-05-25
  • Clinical and experimental insight into pathophysiology, comorbidity and therapy of absence seizures.
    Brain (IF 11.337) Pub Date : 2020-05-21
    Vincenzo Crunelli,Magor L Lőrincz,Cian McCafferty,Régis C Lambert,Nathalie Leresche,Giuseppe Di Giovanni,François David

    Absence seizures in children and teenagers are generally considered relatively benign because of their non-convulsive nature and the large incidence of remittance in early adulthood. Recent studies, however, show that 30% of children with absence seizures are pharmaco-resistant and 60% are affected by severe neuropsychiatric comorbid conditions, including impairments in attention, cognition, memory

    更新日期:2020-05-21
  • Reply: ARSA gene variants and Parkinson's disease.
    Brain (IF 11.337) Pub Date : 2020-05-21
    Seung-Jae Lee,Jun Sung Lee,Manabu Funayama,Han Soo Yoo,Phil Hyu Lee,Nobutaka Hattori

    Sir,

    更新日期:2020-05-21
  • Distinctive binding properties of human monoclonal LGI1 autoantibodies determine pathogenic mechanisms.
    Brain (IF 11.337) Pub Date : 2020-05-21
    Melanie Ramberger,Antonio Berretta,Jeanne M M Tan,Bo Sun,Sophia Michael,Tianrong Yeo,Jakob Theorell,Rachael Bashford-Rogers,Sofija Paneva,Victoria O'Dowd,Neesha Dedi,Sarfaraj Topia,Robert Griffin,Jorge Ramirez-Franco,Oussama El Far,Stéphanie Baulac,Maria I Leite,Arjune Sen,Alexander Jeans,David McMillan,Diane Marshall,Daniel Anthony,Daniel Lightwood,Patrick Waters,Sarosh R Irani

    Autoantibodies against leucine-rich glioma inactivated 1 (LGI1) are found in patients with limbic encephalitis and focal seizures. Here, we generate patient-derived monoclonal antibodies (mAbs) against LGI1. We explore their sequences and binding characteristics, plus their pathogenic potential using transfected HEK293T cells, rodent neuronal preparations, and behavioural and electrophysiological assessments

    更新日期:2020-05-21
  • ARSA gene variants and Parkinson's disease.
    Brain (IF 11.337) Pub Date : 2020-05-21
    Yu Fan,Cheng-Yuan Mao,Ya-Li Dong,Si Shen,Qi-Meng Zhang,Da-Bao Yao,Fen Liu,Meng-Jie Li,Xin-Chao Hu,Tai Wang,Yu-Tao Liu,Han Liu,Yan-Lin Wang,Yan-Peng Yuan,Chan Zhang,Jing Yang,Chang-He Shi,Yu-Ming Xu

    Sir,

    更新日期:2020-05-21
  • Novel GDAP2 pathogenic variants cause autosomal recessive spinocerebellar ataxia-27 (SCAR27) in a Chinese family.
    Brain (IF 11.337) Pub Date : 2020-05-21
    Hai-Lin Dong,Hao-Ling Cheng,Ge Bai,Ying Shen,Zhi-Ying Wu

    Sir,

    更新日期:2020-05-21
  • Neither white nor black: embracing clinical variability in dementia diagnosis.
    Brain (IF 11.337) Pub Date : 2020-05-21
    Olivier Piguet

    This scientific commentary refers to ‘Redefining the multidimensional clinical phenotypes of frontotemporal lobar degeneration syndromes’, by Murley etal. (doi:10.1093/brain/awaa097).

    更新日期:2020-05-21
  • Editorial.
    Brain (IF 11.337) Pub Date : 2020-05-21
    Dimitri M Kullmann

    This month marks a year since Brain’s sister journal Brain Communications was launched. At the time of writing (late March 2020), Brain Communications has already published 59 original articles and two reviews, as well as two editorials by Tara Spires-Jones. This is by all accounts an impressive start for a new journal, not least because of the quality of the articles and their anticipated impact on

    更新日期:2020-05-21
  • Shaking with fear: the role of noradrenaline in modulating resting tremor.
    Brain (IF 11.337) Pub Date : 2020-05-21
    Natasha L Taylor,Eli J Müller,James M Shine

    This scientific commentary refers to ‘Cognitive load amplifies Parkinson’s tremor through excitatory network influences onto the thalamus’, by Dirkx etal. (doi: 10.1093/brain/awaa083).

    更新日期:2020-05-21
  • The NLRP3 inflammasome in progressive multiple sclerosis.
    Brain (IF 11.337) Pub Date : 2020-05-21
    Atsushi Kadowaki,Francisco J Quintana

    This scientific commentary refers to ‘NLRP3 inflammasome as prognostic factor and therapeutic target in primary progressive multiple sclerosis patients’, by Malhotra etal. (doi:10.1093/brain/awaa084).

    更新日期:2020-05-21
  • Elucidating neural network changes induced by deep brain stimulation for OCD.
    Brain (IF 11.337) Pub Date : 2020-05-21
    Jens Kuhn,Juan Carlos Baldermann

    This scientific commentary refers to ‘Deep brain stimulation modulates directional limbic connectivity in obsessive-compulsive disorder’, by Fridgeirsson etal. (doi:10.1093/brain/awaa100).

    更新日期:2020-05-21
  • Arginine is a disease modifier for polyQ disease models that stabilizes polyQ protein conformation.
    Brain (IF 11.337) Pub Date : 2020-05-21
    Eiko N Minakawa,Helena Akiko Popiel,Masayoshi Tada,Toshiaki Takahashi,Hiroshi Yamane,Yuji Saitoh,Yasuo Takahashi,Daisaku Ozawa,Akiko Takeda,Toshihide Takeuchi,Yuma Okamoto,Kazuhiro Yamamoto,Mari Suzuki,Hiromi Fujita,Chiyomi Ito,Hiroko Yagihara,Yuko Saito,Kei Watase,Hiroaki Adachi,Masahisa Katsuno,Hideki Mochizuki,Kentaro Shiraki,Gen Sobue,Tatsushi Toda,Keiji Wada,Osamu Onodera,Yoshitaka Nagai

    The polyglutamine (polyQ) diseases are a group of inherited neurodegenerative diseases that include Huntington’s disease, various spinocerebellar ataxias, spinal and bulbar muscular atrophy, and dentatorubral pallidoluysian atrophy. They are caused by the abnormal expansion of a CAG repeat coding for the polyQ stretch in the causative gene of each disease. The expanded polyQ stretches trigger abnormal

    更新日期:2020-05-21
  • Reduced oligodendrocyte exosome secretion in multiple system atrophy involves SNARE dysfunction.
    Brain (IF 11.337) Pub Date : 2020-05-18
    Zhenwei Yu,Min Shi,Tessandra Stewart,Pierre-Olivier Fernagut,Yang Huang,Chen Tian,Benjamin Dehay,Anzari Atik,Dishun Yang,Francesca De Giorgi,François Ichas,Marie-Hélène Canron,Roberto Ceravolo,Daniela Frosini,Han-Joon Kim,Tao Feng,Wassilios G Meissner,Jing Zhang

    Transportation of key proteins via extracellular vesicles has been recently implicated in various neurodegenerative disorders, including Parkinson’s disease, as a new mechanism of disease spreading and a new source of biomarkers. Extracellular vesicles likely to be derived from the brain can be isolated from peripheral blood and have been reported to contain higher levels of α-synuclein (α-syn) in

    更新日期:2020-05-18
  • Functional preservation and enhanced capacity for visual restoration in subacute occipital stroke.
    Brain (IF 11.337) Pub Date : 2020-05-18
    Elizabeth L Saionz,Duje Tadin,Michael D Melnick,Krystel R Huxlin

    Stroke damage to the primary visual cortex (V1) causes a loss of vision known as hemianopia or cortically-induced blindness. While perimetric visual field improvements can occur spontaneously in the first few months post-stroke, by 6 months post-stroke, the deficit is considered chronic and permanent. Despite evidence from sensorimotor stroke showing that early injury responses heighten neuroplastic

    更新日期:2020-05-18
  • The role of the inferior parietal lobule in writer's cramp.
    Brain (IF 11.337) Pub Date : 2020-05-18
    Shabbir Hussain I Merchant,Eleni Frangos,Jacob Parker,Megan Bradson,Tianxia Wu,Felipe Vial-Undurraga,Giorgio Leodori,M C Bushnell,Silvina G Horovitz,Mark Hallett,Traian Popa

    Humans have a distinguishing ability for fine motor control that is subserved by a highly evolved cortico-motor neuronal network. The acquisition of a particular motor skill involves a long series of practice movements, trial and error, adjustment and refinement. At the cortical level, this acquisition begins in the parieto-temporal sensory regions and is subsequently consolidated and stratified in

    更新日期:2020-05-18
  • A homozygous GDAP2 loss-of-function variant in a patient with adult-onset cerebellar ataxia.
    Brain (IF 11.337) Pub Date : 2020-05-18
    Marianthi Breza,Thomas Bourinaris,Stephanie Efthymiou,Reza Maroofian,Alkyoni Athanasiou-Fragkouli,John Tzartos,Georgios Velonakis,Efstratios Karavasilis,Georgia Angelopoulou,Dimitrios Kasselimis,Constantin Potagas,Leonidas Stefanis,Georgia Karadima,Georgios Koutsis,Henry Houlden

    Sir,

    更新日期:2020-05-18
  • 更新日期:2020-05-18
  • Neural stem cells restore myelin in a demyelinating model of Pelizaeus-Merzbacher disease.
    Brain (IF 11.337) Pub Date : 2020-05-18
    Fredrik I Gruenenfelder,Mark McLaughlin,Ian R Griffiths,James Garbern,Gemma Thomson,Peter Kuzman,Jennifer A Barrie,Maj-Lis McCulloch,Jacques Penderis,Ruth Stassart,Klaus-Armin Nave,Julia M Edgar

    Pelizaeus-Merzbacher disease is a fatal X-linked leukodystrophy caused by mutations in the PLP1 gene, which is expressed in the CNS by oligodendrocytes. Disease onset, symptoms and mortality span a broad spectrum depending on the nature of the mutation and thus the degree of CNS hypomyelination. In the absence of an effective treatment, direct cell transplantation into the CNS to restore myelin has

    更新日期:2020-05-18
  • Unravelling the enigma of cortical tremor and other forms of cortical myoclonus.
    Brain (IF 11.337) Pub Date : 2020-05-17
    Anna Latorre,Lorenzo Rocchi,Francesca Magrinelli,Eoin Mulroy,Alfredo Berardelli,John C Rothwell,Kailash P Bhatia

    Cortical tremor is a fine rhythmic oscillation involving distal upper limbs, linked to increased sensorimotor cortex excitability, as seen in cortical myoclonus. Cortical tremor is the hallmark feature of autosomal dominant familial cortical myoclonic tremor and epilepsy (FCMTE), a syndrome not yet officially recognized and characterized by clinical and genetic heterogeneity. Non-coding repeat expansions

    更新日期:2020-05-17
  • Inhibition between human brain areas or methodological artefact?
    Brain (IF 11.337) Pub Date : 2020-05-15
    Christoph Sperber,Hans-Otto Karnath

    Brain receives far more manuscript submissions than can reasonably be sent for formal peer review. Although the reasons for editorial rejection are diverse and include such factors as under-powered study design, limited conceptual novelty or remoteness from clinical translation, the motivation behind the authors’ work is rarely in doubt. Nevertheless, there remains a small number of submissions where

    更新日期:2020-05-15
  • Reply: Inhibition between human brain areas or methodological artefact?
    Brain (IF 11.337) Pub Date : 2020-05-15
    Monica N Toba,Caroline Malherbe,Olivier Godefroy,R Jarrett Rushmore,Melissa Zavaglia,Redwan Maatoug,Emmanuel Mandonnet,Antoni Valero-Cabré,Claus C Hilgetag

    Brain receives far more manuscript submissions than can reasonably be sent for formal peer review. Although the reasons for editorial rejection are diverse and include such factors as under-powered study design, limited conceptual novelty or remoteness from clinical translation, the motivation behind the authors’ work is rarely in doubt. Nevertheless, there remains a small number of submissions where

    更新日期:2020-05-15
  • Gene replacement therapy provides benefit in an adult mouse model of Leigh syndrome.
    Brain (IF 11.337) Pub Date : 2020-05-15
    Robin Reynaud-Dulaurier,Giorgia Benegiamo,Elena Marrocco,Racha Al-Tannir,Enrico Maria Surace,Johan Auwerx,Michael Decressac

    Mutations in nuclear-encoded mitochondrial genes are responsible for a broad spectrum of disorders among which Leigh syndrome is the most common in infancy. No effective therapies are available for this severe disease mainly because of the limited capabilities of the standard adeno-associated viral (AAV) vectors to transduce both peripheral organs and the CNS when injected systemically in adults. Here

    更新日期:2020-05-15
  • Myelin oligodendrocyte glycoprotein antibody-associated disease: an immunopathological study.
    Brain (IF 11.337) Pub Date : 2020-05-15
    Yoshiki Takai,Tatsuro Misu,Kimihiko Kaneko,Norio Chihara,Koichi Narikawa,Satoko Tsuchida,Hiroya Nishida,Takashi Komori,Morinobu Seki,Teppei Komatsu,Kiyotaka Nakamagoe,Toshimasa Ikeda,Mari Yoshida,Toshiyuki Takahashi,Hirohiko Ono,Shuhei Nishiyama,Hiroshi Kuroda,Ichiro Nakashima,Hiroyoshi Suzuki,Monika Bradl,Hans Lassmann,Kazuo Fujihara,Masashi Aoki,

    Conformation-sensitive antibodies against myelin oligodendrocyte glycoprotein (MOG) are detectable in patients with optic neuritis, myelitis, opticomyelitis, acute or multiphasic disseminated encephalomyelitis (ADEM/MDEM) and brainstem/cerebral cortical encephalitis, but are rarely detected in patients with prototypic multiple sclerosis. So far, there has been no systematic study on the pathological

    更新日期:2020-05-15
  • Neurofilaments: neurobiological foundations for biomarker applications.
    Brain (IF 11.337) Pub Date : 2020-05-14
    Arie R Gafson,Nicolas R Barthélemy,Pascale Bomont,Roxana O Carare,Heather D Durham,Jean-Pierre Julien,Jens Kuhle,David Leppert,Ralph A Nixon,Roy O Weller,Henrik Zetterberg,Paul M Matthews

    Interest in neurofilaments has risen sharply in recent years with recognition of their potential as biomarkers of brain injury or neurodegeneration in CSF and blood. This is in the context of a growing appreciation for the complexity of the neurobiology of neurofilaments, new recognition of specialized roles for neurofilaments in synapses and a developing understanding of mechanisms responsible for

    更新日期:2020-05-14
  • Tissue-resident memory T cells invade the brain parenchyma in multiple sclerosis white matter lesions.
    Brain (IF 11.337) Pub Date : 2020-05-13
    Nina L Fransen,Cheng-Chih Hsiao,Marlijn van der Poel,Hendrik J Engelenburg,Kim Verdaasdonk,Maria C J Vincenten,Ester B M Remmerswaal,Tanja Kuhlmann,Matthew R J Mason,Jörg Hamann,Joost Smolders,Inge Huitinga

    Multiple sclerosis is a chronic inflammatory, demyelinating disease, although it has been suggested that in the progressive late phase, inflammatory lesion activity declines. We recently showed in the Netherlands Brain Bank multiple sclerosis-autopsy cohort considerable ongoing inflammatory lesion activity also at the end stage of the disease, based on microglia/macrophage activity. We have now studied

    更新日期:2020-05-13
  • Tau immunophenotypes in chronic traumatic encephalopathy recapitulate those of ageing and Alzheimer's disease.
    Brain (IF 11.337) Pub Date : 2020-05-11
    John D Arena,Douglas H Smith,Edward B Lee,Garrett S Gibbons,David J Irwin,John L Robinson,Virginia M-Y Lee,John Q Trojanowski,William Stewart,Victoria E Johnson

    Traumatic brain injury (TBI) is a risk factor for neurodegenerative disease, including chronic traumatic encephalopathy (CTE). Preliminary consensus criteria define the pathognomonic lesion of CTE as patchy tau pathology within neurons and astrocytes at the depths of cortical sulci. However, the specific tau isoform composition and post-translational modifications in CTE remain largely unexplored.

    更新日期:2020-05-11
Contents have been reproduced by permission of the publishers.
导出
全部期刊列表>>
胸部和胸部成像专题
自然科研论文编辑服务
ACS ES&T Engineering
ACS ES&T Water
屿渡论文,编辑服务
鲁照永
华东师范大学
苏州大学
南京工业大学
南开大学
中科大
唐勇
跟Nature、Science文章学绘图
隐藏1h前已浏览文章
中洪博元
课题组网站
新版X-MOL期刊搜索和高级搜索功能介绍
ACS材料视界
x-mol收录
广东实验室
南京大学
王杰
南科大
刘尊峰
湖南大学
清华大学
王小野
中山大学化学工程与技术学院
试剂库存
天合科研
down
wechat
bug