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  • THC and CBD: is medical cannabis over-hyped or under-prescribed?
    Brain (IF 11.814) Pub Date : 2020-03-30
    Lyon L.

    In the summer of 2018, Charlotte Caldwell was stopped at Heathrow airport for attempting to bring a full-extract cannabis oil into the UK. The oil was intended for her son, Billy, who has a rare form of epilepsy called Dravet syndrome. But because all use of full-extract cannabis oils was illegal in the UK at the time, Caldwell’s oil was confiscated when she tried to declare it. Billy’s seizures worsened

    更新日期:2020-03-30
  • Structural and functional footprint of visual snow syndrome
    Brain (IF 11.814) Pub Date : 2020-03-24
    Schankin C, Maniyar F, Chou D, et al.

    Patients with visual snow syndrome suffer from a continuous pan-field visual disturbance, additional visual symptoms, tinnitus, and non-perceptional symptoms. The pathophysiology of visual symptoms might involve dysfunctional visual cortex. So far, the extra-visual system has not been investigated. We aimed at identifying structural and functional correlates for visual and non-visual symptoms in visual

    更新日期:2020-03-30
  • RSRC1 loss-of-function variants cause mild to moderate autosomal recessive intellectual disability
    Brain (IF 11.814) Pub Date : 2020-03-30
    Scala M, Mojarrad M, Riazuddin S, et al.

    Sir,

    更新日期:2020-03-30
  • Variants in saposin D domain of prosaposin gene linked to Parkinson’s disease
    Brain (IF 11.814) Pub Date : 2020-03-23
    Oji Y, Hatano T, Ueno S, et al.

    Recently, the genetic variability in lysosomal storage disorders has been implicated in the pathogenesis of Parkinson’s disease. Here, we found that variants in prosaposin (PSAP), a rare causative gene of various types of lysosomal storage disorders, are linked to Parkinson’s disease. Genetic mutation screening revealed three pathogenic mutations in the saposin D domain of PSAP from three families

    更新日期:2020-03-24
  • The multifaceted role of kinases in amyotrophic lateral sclerosis: genetic, pathological and therapeutic implications
    Brain (IF 11.814) Pub Date : 2020-03-24
    Guo W, Vandoorne T, Steyaert J, et al.

    Amyotrophic lateral sclerosis is the most common degenerative disorder of motor neurons in adults. As there is no cure, thousands of individuals who are alive at present will succumb to the disease. In recent years, numerous causative genes and risk factors for amyotrophic lateral sclerosis have been identified. Several of the recently identified genes encode kinases. In addition, the hypothesis that

    更新日期:2020-03-24
  • Plasma tau, neurofilament light chain and amyloid-β levels and risk of dementia; a population-based cohort study
    Brain (IF 11.814) Pub Date : 2020-03-24
    de Wolf F, Ghanbari M, Licher S, et al.

    CSF biomarkers, including total-tau, neurofilament light chain (NfL) and amyloid-β, are increasingly being used to define and stage Alzheimer’s disease. These biomarkers can be measured more quickly and less invasively in plasma and may provide important information for early diagnosis of Alzheimer’s disease. We used stored plasma samples and clinical data obtained from 4444 non-demented participants

    更新日期:2020-03-24
  • Evolving concepts on bradykinesia
    Brain (IF 11.814) Pub Date : 2019-12-13
    Bologna M, Paparella G, Fasano A, et al.

    Bradykinesia is one of the cardinal motor symptoms of Parkinson’s disease and other parkinsonisms. The various clinical aspects related to bradykinesia and the pathophysiological mechanisms underlying bradykinesia are, however, still unclear. In this article, we review clinical and experimental studies on bradykinesia performed in patients with Parkinson’s disease and atypical parkinsonism. We also

    更新日期:2020-03-24
  • Clinical and neuroimaging phenotypes of genetic parkinsonism from infancy to adolescence
    Brain (IF 11.814) Pub Date : 2019-12-04
    Morales-Briceño H, Mohammad S, Post B, et al.

    Genetic early-onset parkinsonism presenting from infancy to adolescence (≤21 years old) is a clinically diverse syndrome often combined with other hyperkinetic movement disorders, neurological and imaging abnormalities. The syndrome is genetically heterogeneous, with many causative genes already known. With the increased use of next-generation sequencing in clinical practice, there have been novel

    更新日期:2020-03-24
  • Corrigendum.
    Brain (IF 11.814) Pub Date : 2019-12-31

    Christopher D. Morrone, Paolo Bazzigaluppi, Tina L. Beckett, Mary E. Hill, Margaret M. Koletar, Bojana Stefanovic and JoAnne McLaurin. Regional differences in Alzheimer’s disease pathology confound behavioural rescue after amyloid-β attenuation. Brain 2019; 143. https://doi.org/10.1093/brain/awz371.

    更新日期:2020-03-24
  • Corrigendum.
    Brain (IF 11.814) Pub Date : 2019-12-22

    Christian Schiemenz, Ana Westenberger, Kerstin Tanzer, Karen Grütz, Max Borsche, Georg Mahlke, Susen Schaake, Aleksandar Rakovic, Zouhair Aherrahrou, Jeanette Erdmann, Christine Klein and Daniel Alvarez-Fischer. Osteoclast imbalance in primary familial brain calcification: evidence for its role in brain calcification. Brain 2020; 143: doi:10.1093/brain/awz351.

    更新日期:2020-03-24
  • Grey Matter Adolf Meyer: the neuroanatomist and neuropsychiatrist behind Meyer's loop and its significance in neurosurgery.
    Brain (IF 11.814) Pub Date : 2019-12-20
    Olaf E M G Schijns,Peter J Koehler

    Adolf Meyer’s insights into the neuroanatomy of the optic radiation play an important role in understanding the development of visual field deficits after temporal lobe resection. He studied medicine in Zurich, where his interest in neuroanatomy was influenced by his teachers, Constantin von Monakow and Auguste-Henri Forel. After graduation in 1890, he studied in France, Scotland and England for 2

    更新日期:2020-03-24
  • Differential effect of lacosamide on Nav1.7 variants from responsive and non-responsive patients with small fibre neuropathy.
    Brain (IF 11.814) Pub Date : 2020-02-03
    Julie Ir Labau,Mark Estacion,Brian S Tanaka,Bianca Ta de Greef,Janneke Gj Hoeijmakers,Margot Geerts,Monique M Gerrits,Hubert Jm Smeets,Catharina G Faber,Ingemar Sj Merkies,Giuseppe Lauria,Sulayman D Dib-Hajj,Stephen G Waxman

    Small fibre neuropathy is a common pain disorder, which in many cases fails to respond to treatment with existing medications. Gain-of-function mutations of voltage-gated sodium channel Nav1.7 underlie dorsal root ganglion neuronal hyperexcitability and pain in a subset of patients with small fibre neuropathy. Recent clinical studies have demonstrated that lacosamide, which blocks sodium channels in

    更新日期:2020-03-24
  • Erratum.
    Brain (IF 11.814) Pub Date : 2020-02-04

    The January issue of Brain (143-1) was inadvertently published under the incorrect year. This has now been corrected to the appropriate year. All papers published in this issue have now been corrected.

    更新日期:2020-03-24
  • Network degeneration in Parkinson's disease: multimodal imaging of nigro-striato-cortical dysfunction.
    Brain (IF 11.814) Pub Date : 2020-02-14
    Marina C Ruppert,Andrea Greuel,Masoud Tahmasian,Frank Schwartz,Sophie Stürmer,Franziska Maier,Jochen Hammes,Marc Tittgemeyer,Lars Timmermann,Thilo van Eimeren,Alexander Drzezga,Carsten Eggers

    The spreading hypothesis of neurodegeneration assumes an expansion of neural pathologies along existing neural pathways. Multimodal neuroimaging studies have demonstrated distinct topographic patterns of cerebral pathologies in neurodegeneration. For Parkinson's disease the hypothesis so far rests largely on histopathological evidence of α-synuclein spreading in a characteristic pattern and progressive

    更新日期:2020-03-24
  • Dynamics of recovery from anaesthesia-induced unconsciousness across primate neocortex.
    Brain (IF 11.814) Pub Date : 2020-02-12
    Shaun R Patel,Jesus J Ballesteros,Omar J Ahmed,Pamela Huang,Jessica Briscoe,Emad N Eskandar,Yumiko Ishizawa

    How the brain recovers from general anaesthesia is poorly understood. Neurocognitive problems during anaesthesia recovery are associated with an increase in morbidity and mortality in patients. We studied intracortical neuronal dynamics during transitions from propofol-induced unconsciousness into consciousness by directly recording local field potentials and single neuron activity in a functionally

    更新日期:2020-03-24
  • α-Synuclein oligomers in skin biopsy of idiopathic and monozygotic twin patients with Parkinson's disease.
    Brain (IF 11.814) Pub Date : 2020-02-05
    Samanta Mazzetti,Milo J Basellini,Valentina Ferri,Erica Cassani,Emanuele Cereda,Matilde Paolini,Alessandra M Calogero,Carlotta Bolliri,Mara De Leonardis,Giorgio Sacilotto,Roberto Cilia,Graziella Cappelletti,Gianni Pezzoli

    A variety of cellular processes, including vesicle clustering in the presynaptic compartment, are impaired in Parkinson's disease and have been closely associated with α-synuclein oligomerization. Emerging evidence proves the existence of α-synuclein-related pathology in the peripheral nervous system, even though the presence of α-synuclein oligomers in situ in living patients remains poorly investigated

    更新日期:2020-03-24
  • Soluble TREM2 is elevated in Parkinson's disease subgroups with increased CSF tau.
    Brain (IF 11.814) Pub Date : 2020-02-17
    Edward N Wilson,Michelle S Swarovski,Patricia Linortner,Marian Shahid,Abigail J Zuckerman,Qian Wang,Divya Channappa,Paras S Minhas,Siddhita D Mhatre,Edward D Plowey,Joseph F Quinn,Cyrus P Zabetian,Lu Tian,Frank M Longo,Brenna Cholerton,Thomas J Montine,Kathleen L Poston,Katrin I Andreasson

    Parkinson's disease is the second most common neurodegenerative disease after Alzheimer's disease and affects 1% of the population above 60 years old. Although Parkinson's disease commonly manifests with motor symptoms, a majority of patients with Parkinson's disease subsequently develop cognitive impairment, which often progresses to dementia, a major cause of morbidity and disability. Parkinson's

    更新日期:2020-03-24
  • Earliest amyloid and tau deposition modulate the influence of limbic networks during closed-loop hippocampal downregulation.
    Brain (IF 11.814) Pub Date : 2020-02-24
    Stavros Skouras,Jordi Torner,Patrik Andersson,Yury Koush,Carles Falcon,Carolina Minguillon,Karine Fauria,Francesc Alpiste,Kaj Blenow,Henrik Zetterberg,Juan D Gispert,José L Molinuevo,

    Research into hippocampal self-regulation abilities may help determine the clinical significance of hippocampal hyperactivity throughout the pathophysiological continuum of Alzheimer's disease. In this study, we aimed to identify the effects of amyloid-β peptide 42 (amyloid-β42) and phosphorylated tau on the patterns of functional connectomics involved in hippocampal downregulation. We identified 48

    更新日期:2020-03-24
  • Dynamics of language reorganization after left temporo-parietal and frontal stroke.
    Brain (IF 11.814) Pub Date : 2020-02-18
    Anika Stockert,Max Wawrzyniak,Julian Klingbeil,Katrin Wrede,Dorothee Kümmerer,Gesa Hartwigsen,Christoph P Kaller,Cornelius Weiller,Dorothee Saur

    The loss and recovery of language functions are still incompletely understood. This longitudinal functional MRI study investigated the neural mechanisms underlying language recovery in patients with post-stroke aphasia putting particular emphasis on the impact of lesion site. To identify patterns of language-related activation, an auditory functional MRI sentence comprehension paradigm was administered

    更新日期:2020-03-24
  • Impaired automatic but intact volitional inhibition in primary tic disorders.
    Brain (IF 11.814) Pub Date : 2020-03-03
    Vishal Rawji,Sachin Modi,Anna Latorre,Lorenzo Rocchi,Leanne Hockey,Kailash Bhatia,Eileen Joyce,John C Rothwell,Marjan Jahanshahi

    The defining character of tics is that they can be transiently suppressed by volitional effort of will, and at a behavioural level this has led to the concept that tics result from a failure of inhibition. However, this logic conflates the mechanism responsible for the production of tics with that used in suppressing them. Volitional inhibition of motor output could be increased to prevent the tic

    更新日期:2020-03-24
  • Two distinct neuroanatomical subtypes of schizophrenia revealed using machine learning.
    Brain (IF 11.814) Pub Date : 2020-02-27
    Ganesh B Chand,Dominic B Dwyer,Guray Erus,Aristeidis Sotiras,Erdem Varol,Dhivya Srinivasan,Jimit Doshi,Raymond Pomponio,Alessandro Pigoni,Paola Dazzan,Rene S Kahn,Hugo G Schnack,Marcus V Zanetti,Eva Meisenzahl,Geraldo F Busatto,Benedicto Crespo-Facorro,Christos Pantelis,Stephen J Wood,Chuanjun Zhuo,Russell T Shinohara,Haochang Shou,Yong Fan,Ruben C Gur,Raquel E Gur,Theodore D Satterthwaite,Nikolaos

    Neurobiological heterogeneity in schizophrenia is poorly understood and confounds current analyses. We investigated neuroanatomical subtypes in a multi-institutional multi-ethnic cohort, using novel semi-supervised machine learning methods designed to discover patterns associated with disease rather than normal anatomical variation. Structural MRI and clinical measures in established schizophrenia

    更新日期:2020-03-24
  • Gene replacement ameliorates deficits in mouse and human models of cyclin-dependent kinase-like 5 disorder.
    Brain (IF 11.814) Pub Date : 2020-03-03
    Yunan Gao,Elaine E Irvine,Ioanna Eleftheriadou,Carlos Jiménez Naranjo,Francesca Hearn-Yeates,Leontien Bosch,Justyna A Glegola,Leah Murdoch,Aleksandra Czerniak,Ilaria Meloni,Alessandra Renieri,Maria Kinali,Nicholas D Mazarakis

    Cyclin-dependent kinase-like 5 disorder is a severe neurodevelopmental disorder caused by mutations in the X-linked cyclin-dependent kinase-like 5 (CDKL5) gene. It predominantly affects females who typically present with severe early epileptic encephalopathy, global developmental delay, motor dysfunction, autistic features and sleep disturbances. To develop a gene replacement therapy, we initially

    更新日期:2020-03-24
  • Dissociation between frontal and temporal-parietal contributions to connected speech in acute stroke
    Brain (IF 11.814) Pub Date : 2020-03-10
    Ding J, Martin R, Hamilton A, et al.

    Humans are uniquely able to retrieve and combine words into syntactic structure to produce connected speech. Previous identification of focal brain regions necessary for production focused primarily on associations with the content produced by speakers with chronic stroke, where function may have shifted to other regions after reorganization occurred. Here, we relate patterns of brain damage with deficits

    更新日期:2020-03-24
  • In vivo CRISPRa decreases seizures and rescues cognitive deficits in a rodent model of epilepsy.
    Brain (IF 11.814) Pub Date : 2020-03-04
    Gaia Colasante,Yichen Qiu,Luca Massimino,Claudia Di Berardino,Jonathan H Cornford,Albert Snowball,Mikail Weston,Steffan P Jones,Serena Giannelli,Andreas Lieb,Stephanie Schorge,Dimitri M Kullmann,Vania Broccoli,Gabriele Lignani

    Epilepsy is a major health burden, calling for new mechanistic insights and therapies. CRISPR-mediated gene editing shows promise to cure genetic pathologies, although hitherto it has mostly been applied ex vivo. Its translational potential for treating non-genetic pathologies is still unexplored. Furthermore, neurological diseases represent an important challenge for the application of CRISPR, because

    更新日期:2020-03-24
  • Neuroinflammation and protein aggregation co-localize across the frontotemporal dementia spectrum
    Brain (IF 11.814) Pub Date : 2020-03-17
    Bevan-Jones W, Cope T, Jones P, et al.

    The clinical syndromes of frontotemporal dementia are clinically and neuropathologically heterogeneous, but processes such as neuroinflammation may be common across the disease spectrum. We investigated how neuroinflammation relates to the localization of tau and TDP-43 pathology, and to the heterogeneity of clinical disease. We used PET in vivo with (i) 11C-PK-11195, a marker of activated microglia

    更新日期:2020-03-24
  • Editorial
    Brain (IF 11.814) Pub Date : 2020-03-22
    Kullmann D.

    Every month, it is hoped that reading the Table of Contents of Brain elicits curiosity and anticipation about the latest developments in translational neuroscience. The reaction that probably does not occur, however, is consternation that men almost always outnumber women among senior authors, at least as far as their genders can be surmised from their first names. The reason that this pattern does

    更新日期:2020-03-24
  • Proof-of-concept for a gene replacement approach to CDKL5 deficiency disorder
    Brain (IF 11.814) Pub Date : 2020-03-22
    Benke T, Kind P.

    This scientific commentary refers to ‘Gene replacement ameliorates deficits in mouse and human models of cyclin-dependent kinase-like 5 disorder’, by Gao etal. (doi:10.1093/brain/awaa028).

    更新日期:2020-03-24
  • Towards metabolic disconnection – symptom mapping
    Brain (IF 11.814) Pub Date : 2020-03-22
    Forkel S, Thiebaut de Schotten M.

    This scientific commentary refers to ‘Metabolic lesion-deficit mapping of human cognition’ by Jha etal. (doi:10.1093/brain/awaa032).

    更新日期:2020-03-24
  • Virtual reality and real-time neurofeedback functional MRI: a breakthrough in foreseeing Alzheimer’s disease?
    Brain (IF 11.814) Pub Date : 2020-03-22
    Agosta F, Canu E, Filippi M.

    This scientific commentary refers to ‘Earliest amyloid and tau deposition modulate the influence of limbic networks during closed-loop hippocampal downregulation’ by Skouras etal. (doi:10.1093/brain/awaa011).

    更新日期:2020-03-24
  • CYLD is a causative gene for frontotemporal dementia – amyotrophic lateral sclerosis
    Brain (IF 11.814) Pub Date : 2020-03-23
    Dobson-Stone C, Hallupp M, Shahheydari H, et al.

    Frontotemporal dementia and amyotrophic lateral sclerosis are clinically and pathologically overlapping disorders with shared genetic causes. We previously identified a disease locus on chromosome 16p12.1-q12.2 with genome-wide significant linkage in a large European Australian family with autosomal dominant inheritance of frontotemporal dementia and amyotrophic lateral sclerosis and no mutation in

    更新日期:2020-03-24
  • Rethinking the nature of inhibitory control deficits in Tourette syndrome
    Brain (IF 11.814) Pub Date : 2020-03-22
    Jackson G, Jackson S.

    This scientific commentary refers to ‘Impaired automatic but intact volitional inhibition in primary tic disorders’, by Rawji etal. (doi:10.1093/brain/awaa024).

    更新日期:2020-03-24
  • Basal forebrain volume reliably predicts the cortical spread of Alzheimer’s degeneration
    Brain (IF 11.814) Pub Date : 2020-03-22
    Fernández-Cabello S, Kronbichler M, Van Dijk K, et al.

    Alzheimer’s disease neurodegeneration is thought to spread across anatomically and functionally connected brain regions. However, the precise sequence of spread remains ambiguous. The prevailing model used to guide in vivo human neuroimaging and non-human animal research assumes that Alzheimer’s degeneration starts in the entorhinal cortices, before spreading to the temporoparietal cortex. Challenging

    更新日期:2020-03-24
  • Cortical interneuron-mediated inhibition delays the onset of amyotrophic lateral sclerosis
    Brain (IF 11.814) Pub Date : 2020-03-23
    Khademullah C, Aqrabawi A, Place K, et al.

    Amyotrophic lateral sclerosis is a fatal disease resulting from motor neuron degeneration in the cortex and spinal cord. Cortical hyperexcitability is a hallmark feature of amyotrophic lateral sclerosis and is accompanied by decreased intracortical inhibition. Using electrophysiological patch-clamp recordings, we revealed parvalbumin interneurons to be hypoactive in the late pre-symptomatic SOD1*G93A

    更新日期:2020-03-24
  • Metabolic lesion-deficit mapping of human cognition
    Brain (IF 11.814) Pub Date : 2020-03-23
    Jha A, Teotonio R, Smith A, et al.

    In theory the most powerful technique for functional localization in cognitive neuroscience, lesion-deficit mapping is in practice distorted by unmodelled network disconnections and strong ‘parasitic’ dependencies between collaterally damaged ischaemic areas. High-dimensional multivariate modelling can overcome these defects, but only at the cost of commonly impracticable data scales. Here we develop

    更新日期:2020-03-24
  • Long-term post-mortem studies following neurturin gene therapy in patients with advanced Parkinson’s disease
    Brain (IF 11.814) Pub Date : 2020-03-23
    Chu Y, Bartus R, Manfredsson F, et al.

    We performed post-mortem studies on two patients with advanced Parkinson’s disease 8 and10 years following AAV2-neurturin (CERE120) gene therapy, the longest post-mortem trophic factor gene therapy cases reported to date. CERE120 was delivered to the putamen bilaterally in one case (10 years post-surgery), and to the putamen plus the substantia nigra bilaterally in the second (8 years post-surgery)

    更新日期:2020-03-24
  • Network localization of clinical, cognitive, and neuropsychiatric symptoms in Alzheimer’s disease
    Brain (IF 11.814) Pub Date : 2020-03-16
    Tetreault A, Phan T, Orlando D, et al.

    There is both clinical and neuroanatomical variability at the single-subject level in Alzheimer’s disease, complicating our understanding of brain-behaviour relationships and making it challenging to develop neuroimaging biomarkers to track disease severity, progression, and response to treatment. Prior work has shown that both group-level atrophy in clinical dementia syndromes and complex neurological

    更新日期:2020-03-16
  • Consensus on the reporting and experimental design of clinical and cognitive-behavioural neurofeedback studies (CRED-nf checklist)
    Brain (IF 11.814) Pub Date : 2020-03-16
    Ros T, Enriquez-Geppert S, Zotev V, et al.

    Neurofeedback has begun to attract the attention and scrutiny of the scientific and medical mainstream. Here, neurofeedback researchers present a consensus-derived checklist that aims to improve the reporting and experimental design standards in the field.

    更新日期:2020-03-16
  • Corrigendum
    Brain (IF 11.814) Pub Date : 2020-03-12

    Je-Yeon Yun, Premika S.W. Boedhoe, Chris Vriend, Neda Jahanshad, Yoshinari Abe, Stephanie H. Ameis, Alan Anticevic, Paul D. Arnold, Marcelo C. Batistuzzo, Francesco Benedetti, Jan C. Beucke, Irene Bollettini, Anushree Bose, Silvia Brem, Anna Calvo, Yuqi Cheng, Kang Ik K. Cho, Valentina Ciullo, Sara Dallaspezia, Damiaan Denys, Jamie D. Feusner, Jean-Paul Fouche, Mònica Giménez, Patricia Gruner, Derrek

    更新日期:2020-03-16
  • Corrigendum
    Brain (IF 11.814) Pub Date : 2020-03-12

    Sebahattin Cirak, Florian von Deimling, Shrikesh Sachdev, Wesley J. Errington, Ralf Herrmann, Carsten Bönnemann, Knut Brockmann, Stephan Hinderlich, Tom H. Lindner, Alice Steinbrecher, Katrin Hoffmann, Gilbert G. Privé, Mark Hannink, Peter Nürnberg, Thomas Voit. Kelch-like homologue 9 mutation is associated with an early onset autosomal dominant distal myopathy. Brain 2010; 133: 2123–2135; doi.org/10

    更新日期:2020-03-16
  • Anterior visual system imaging to investigate energy failure in multiple sclerosis
    Brain (IF 11.814) Pub Date : 2020-03-12
    Kleerekooper I, Petzold A, Trip S.

    Mitochondrial failure and hypoxia are key contributors to multiple sclerosis pathophysiology. Importantly, improving mitochondrial function holds promise as a new therapeutic strategy in multiple sclerosis. Currently, studying mitochondrial changes in multiple sclerosis is hampered by a paucity of non-invasive techniques to investigate mitochondrial function of the CNS in vivo. It is against this backdrop

    更新日期:2020-03-16
  • A catalogue of new incidence estimates of monogenic neurodevelopmental disorders caused by de novo variants
    Brain (IF 11.814) Pub Date : 2020-03-13
    López-Rivera J, Pérez-Palma E, Symonds J, et al.

    A large fraction of rare and severe neurodevelopmental disorders are caused by sporadic de novo variants. Epidemiological disease estimates are not available for the vast majority of these de novo monogenic neurodevelopmental disorders because of phenotypic heterogeneity and the absence of large-scale genomic screens. Yet, knowledge of disease incidence is important for clinicians and researchers to

    更新日期:2020-03-16
  • White matter basis for the hub-and-spoke semantic representation: evidence from semantic dementia
    Brain (IF 11.814) Pub Date : 2020-03-10
    Chen Y, Huang L, Chen K, et al.

    The hub-and-spoke semantic representation theory posits that semantic knowledge is processed in a neural network, which contains an amodal hub, the sensorimotor modality-specific regions, and the connections between them. The exact neural basis of the hub, regions and connectivity remains unclear. Semantic dementia could be an ideal lesion model to construct the semantic network as this disease presents

    更新日期:2020-03-12
  • Corrigendum
    Brain (IF 11.814) Pub Date : 2020-03-12

    Marc Sindou, Andrei Brinzeu. Topography of the pain in classical trigeminal neuralgia: insights into somatotopic organization. Brain 2020; 143: 531–40. doi:10.1093/brain/awz407.

    更新日期:2020-03-12
  • Corrigendum.
    Brain (IF 11.814) Pub Date : 2020-03-04

    Valentina Perosa, Anastasia Priester, Gabriel Ziegler, Arturo Cardenas-Blanco, Laura Dobisch, Marco Spallazzi, Anne Assmann, Anne Maass, Oliver Speck, Jan Oltmer, Hans-Jochen Heinze, Stefanie Schreiber, Emrah Düzel. Hippocampal vascular reserve associated with cognitive performance and hippocampal volume. Brain 2020; 143: 622–634. doi:10.1093/brain/awz383.

    更新日期:2020-03-04
  • Recommendations to distinguish behavioural variant frontotemporal dementia from psychiatric disorders.
    Brain (IF 11.814) Pub Date : 2020-03-04
    Simon Ducharme,Annemiek Dols,Robert Laforce,Emma Devenney,Fiona Kumfor,Jan van den Stock,Caroline Dallaire-Théroux,Harro Seelaar,Flora Gossink,Everard Vijverberg,Edward Huey,Mathieu Vandenbulcke,Mario Masellis,Calvin Trieu,Chiadi Onyike,Paulo Caramelli,Leonardo Cruz de Souza,Alexander Santillo,Maria Landqvist Waldö,Ramon Landin-Romero,Olivier Piguet,Wendy Kelso,Dhamidhu Eratne,Dennis Velakoulis,Manabu

    The behavioural variant of frontotemporal dementia (bvFTD) is a frequent cause of early-onset dementia. The diagnosis of bvFTD remains challenging because of the limited accuracy of neuroimaging in the early disease stages and the absence of molecular biomarkers, and therefore relies predominantly on clinical assessment. BvFTD shows significant symptomatic overlap with non-degenerative primary psychiatric

    更新日期:2020-03-04
  • 更新日期:2020-03-03
  • Recurrent bi-allelic splicing variant c.454+3A>G in TRAPPC4 is associated with progressive encephalopathy and muscle involvement.
    Brain (IF 11.814) Pub Date : 2020-03-03
    Parneet Kaur,Rajagopal Kadavigere,Katta Mohan Girisha,Anju Shukla

    更新日期:2020-03-03
  • Corrigendum.
    Brain (IF 11.814) Pub Date : 2020-02-29

    Paolo Calabresi, Emilia Saulle, Diego Centonze, Antonio Pisani, Girolama A. Marfia, Giorgio Bernardi. Post‐ischaemic long‐term synaptic potentiation in the striatum: a putative mechanism for cell type‐specific vulnerability. Brain 2002; 125: 844–860. doi:10.1093/brain/awf073.

    更新日期:2020-03-02
  • Prognosis for patients with cognitive motor dissociation identified by brain-computer interface.
    Brain (IF 11.814) Pub Date : 2020-02-26
    Jiahui Pan,Qiuyou Xie,Pengmin Qin,Yan Chen,Yanbin He,Haiyun Huang,Fei Wang,Xiaoxiao Ni,Andrzej Cichocki,Ronghao Yu,Yuanqing Li

    Cognitive motor dissociation describes a subset of patients with disorders of consciousness who show neuroimaging evidence of consciousness but no detectable command-following behaviours. Although essential for family counselling, decision-making, and the design of rehabilitation programmes, the prognosis for patients with cognitive motor dissociation remains under-investigated. The current study included

    更新日期:2020-02-27
  • Corrigendum.
    Brain (IF 11.814) Pub Date : 2020-02-24

    Cornelis Blauwendraat, Xylena Reed, Lynne Krohn, Karl Heilbron, Sara Bandres-Ciga, Manuela Tan, J. Raphael Gibbs, Dena G. Hernandez, Ravindran Kumaran, Rebekah Langston, Luis Bonet-Ponce, Roy N. Alcalay, Sharon Hassin-Baer, Lior Greenbaum, Hirotaka Iwaki, Hampton L. Leonard, Francis P. Grenn, Jennifer A. Ruskey, Marya Sabir, Sarah Ahmed, Mary B. Makarious, Lasse Pihlstrøm, Mathias Toft, Jacobus J.

    更新日期:2020-02-24
  • Corrigendum.
    Brain (IF 11.814) Pub Date : 2020-02-21

    Jonathan O’Muircheartaigh, Emma C. Robinson, Maximillian Pietsch, Thomas Wolfers, Paul Aljabar, Lucilio Cordero Grande, Rui P.A.G. Teixeira, Jelena Bozek, Andreas Schuh, Antonios Makropoulos, Dafnis Batalle, Jana Hutter, Katy Vecchiato, Johannes K. Steinweg, Sean Fitzgibbon, Emer Hughes, Anthony N. Price, Andre Marquand, Daniel Reuckert, Mary Rutherford, Joseph V. Hajnal, Serena J. Counsell, A. David

    更新日期:2020-02-21
  • Antisense oligonucleotide therapeutics in neurodegenerative diseases: the case of polyglutamine disorders.
    Brain (IF 11.814) Pub Date : 2020-02-01
    Ana C Silva,Diana D Lobo,Inês M Martins,Sara M Lopes,Carina Henriques,Sónia P Duarte,Jean-Cosme Dodart,Rui Jorge Nobre,Luis Pereira de Almeida

    Polyglutamine (polyQ) disorders are a group of nine neurodegenerative diseases that share a common genetic cause, which is an expansion of CAG repeats in the coding region of the causative genes that are otherwise unrelated. The trinucleotide expansion encodes for an expanded polyQ tract in the respective proteins, resulting in toxic gain-of-function and eventually in neurodegeneration. Currently,

    更新日期:2020-02-10
  • New insights into cortico-basal-cerebellar connectome: clinical and physiological considerations.
    Brain (IF 11.814) Pub Date : 2020-02-01
    Angelo Quartarone,Alberto Cacciola,Demetrio Milardi,Maria Felice Ghilardi,Alessandro Calamuneri,Gaetana Chillemi,Giuseppe Anastasi,John Rothwell

    The current model of the basal ganglia system based on the 'direct', 'indirect' and 'hyperdirect' pathways provides striking predictions about basal ganglia function that have been used to develop deep brain stimulation approaches for Parkinson's disease and dystonia. The aim of this review is to challenge this scheme in light of new tract tracing information that has recently become available from

    更新日期:2020-02-10
  • Cerebrospinal fluid tau fragment correlates with tau PET: a candidate biomarker for tangle pathology.
    Brain (IF 11.814) Pub Date : 2020-02-01
    Kaj Blennow,Chun Chen,Claudia Cicognola,Kristin R Wildsmith,Paul T Manser,Sandra M Sanabria Bohorquez,Zhentao Zhang,Boer Xie,Junmin Peng,Oskar Hansson,Hlin Kvartsberg,Erik Portelius,Henrik Zetterberg,Tammaryn Lashley,Gunnar Brinkmalm,Geoffrey A Kerchner,Robby M Weimer,Keqiang Ye,Kina Höglund

    To date, there is no validated fluid biomarker for tau pathology in Alzheimer's disease, with contradictory results from studies evaluating the correlation between phosphorylated tau in CSF with tau PET imaging. Tau protein is subjected to proteolytic processing into fragments before being secreted to the CSF. A recent study suggested that tau cleavage after amino acid 368 by asparagine endopeptidase

    更新日期:2020-02-10
  • Corrigendum.
    Brain (IF 11.814) Pub Date : 2019-12-16

    Alessandro Esposito, Antonio Falace, Matias Wagner, Moran Gal, Davide Mei, Valerio Conti, Tiziana Pisano, Davide Aprile, Maria Sabina Cerullo, Antonio De Fusco, Silvia Giovedì, Annette Seibt, Daniella Magen, Tilman Polster, Ayelet Eran, Sarah L. Stenton, Chiara Fiorillo, Sarit Ravid, Ertan Mayatepek, Hava Hafner, Saskia Wortmann, Erez Y. Levanon, Carla Marini, Hanna Mandel, Fabio Benfenati, Felix Distelmaier

    更新日期:2020-02-10
  • Corrigendum.
    Brain (IF 11.814) Pub Date : 2019-12-16

    Ji Zhou, Jiuwei Li, Sarah L. Stenton, Xiaotun Ren, Shuai Gong, Fang Fang and Holger Prokisch. NAD(P)HX dehydratase (NAXD) deficiency: a novel neurodegenerative disorder exacerbated by febrile illnesses. Brain 2019; doi:10.1093/brain/awz375.

    更新日期:2020-02-10
  • Allogeneic HSCT for adult-onset leukoencephalopathy with spheroids and pigmented glia.
    Brain (IF 11.814) Pub Date : 2019-12-16
    Jeffrey M Gelfand,Ariele L Greenfield,Matthew Barkovich,Bryce A Mendelsohn,Keith Van Haren,Christopher P Hess,Gabriel N Mannis

    Adult-onset leukoencephalopathy with spheroids and pigmented glia (ALSP) is an autosomal dominant leukoencephalopathy caused by mutations in colony stimulating factor 1 receptor (CSF1R). Here we report clinical and imaging outcomes following allogeneic haematopoietic stem cell transplantation (HSCT) in two patients with ALSP at the University of California, San Francisco between January 2016 and December

    更新日期:2020-02-10
  • Biallelic loss-of-function mutations in JAM2 cause primary familial brain calcification.
    Brain (IF 11.814) Pub Date : 2019-12-18
    Zhidong Cen,You Chen,Si Chen,Hong Wang,Dehao Yang,Hongmei Zhang,Hongwei Wu,Lebo Wang,Siyang Tang,Jia Ye,Jian Shen,Haotian Wang,Feng Fu,Xinhui Chen,Fei Xie,Peng Liu,Xuan Xu,Jianzhi Cao,Pan Cai,Qinqing Pan,Jieying Li,Wei Yang,Peng-Fei Shan,Yuezhou Li,Jing-Yu Liu,Baorong Zhang,Wei Luo

    Primary familial brain calcification is a monogenic disease characterized by bilateral calcifications in the basal ganglia and other brain regions, and commonly presents motor, psychiatric, and cognitive symptoms. Currently, four autosomal dominant (SLC20A2, PDGFRB, PDGFB, XPR1) and one autosomal recessive (MYORG) causative genes have been identified. Compared with patients with autosomal dominant

    更新日期:2020-02-10
  • Homozygous STXBP1 variant causes encephalopathy and gain-of-function in synaptic transmission.
    Brain (IF 11.814) Pub Date : 2019-12-19
    Hanna C A Lammertse,Annemiek A van Berkel,Michele Iacomino,Ruud F Toonen,Pasquale Striano,Antonio Gambardella,Matthijs Verhage,Federico Zara

    Heterozygous mutations in the STXBP1 gene encoding the presynaptic protein MUNC18-1 cause STXBP1 encephalopathy, characterized by developmental delay, intellectual disability and epilepsy. Impaired mutant protein stability leading to reduced synaptic transmission is considered the main underlying pathogenetic mechanism. Here, we report the first two cases carrying a homozygous STXBP1 mutation, where

    更新日期:2020-02-10
  • Spatial distribution of interictal spikes fluctuates over time and localizes seizure onset.
    Brain (IF 11.814) Pub Date : 2019-12-20
    Erin C Conrad,Samuel B Tomlinson,Jeremy N Wong,Kelly F Oechsel,Russell T Shinohara,Brian Litt,Kathryn A Davis,Eric D Marsh

    The location of interictal spikes is used to aid surgical planning in patients with medically refractory epilepsy; however, their spatial and temporal dynamics are poorly understood. In this study, we analysed the spatial distribution of interictal spikes over time in 20 adult and paediatric patients (12 females, mean age = 34.5 years, range = 5-58) who underwent intracranial EEG evaluation for epilepsy

    更新日期:2020-02-10
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