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
  • RFC1 expansions can mimic hereditary sensory neuropathy with cough and Sjögren syndrome
    Brain (IF 11.337) Pub Date : 2020-09-19
    Kishore R Kumar; Andrea Cortese; Susan E Tomlinson; Stephanie Efthymiou; Melina Ellis; Danqing Zhu; Marion Stoll; Natalia Dominik; Stephen Tisch; Michel Tchan; Kathy H C Wu; Sophie Devery; Penelope J Spring; Simon Hawke; Phillip Cremer; Karl Ng; Mary M Reilly; Garth A Nicholson; Henry Houlden; Marina Kennerson

    The Dorsal Column of this issue of Brain features a perspective by Bart Lutters and Peter Koehler that looks back at the history of cisterna magna puncture, a procedure that was first described in detail by James Bourne Ayer in 1920. They point out that adoption of the technique was driven, to a great extent, by the goal of delivering therapeutic agents directly to the CNS, and that its popularity

    更新日期:2020-09-20
  • Editorial
    Brain (IF 11.337) Pub Date : 2020-09-18
    Dimitri M Kullmann

    The Dorsal Column of this issue of Brain features a perspective by Bart Lutters and Peter Koehler that looks back at the history of cisterna magna puncture, a procedure that was first described in detail by James Bourne Ayer in 1920. They point out that adoption of the technique was driven, to a great extent, by the goal of delivering therapeutic agents directly to the CNS, and that its popularity

    更新日期:2020-09-20
  • Delay from treatment start to full effect of immunotherapies for multiple sclerosis
    Brain (IF 11.337) Pub Date : 2020-09-18
    Izanne Roos; Emmanuelle Leray; Federico Frascoli; Romain Casey; J William L Brown; Dana Horakova; Eva K Havrdova; Maria Trojano; Francesco Patti; Guillermo Izquierdo; Sara Eichau; Marco Onofrj; Alessandra Lugaresi; Alexandre Prat; Marc Girard; Pierre Grammond; Patrizia Sola; Diana Ferraro; Serkan Ozakbas; Roberto Bergamaschi; Maria José Sá; Elisabetta Cartechini; Cavit Boz; Franco Granella; Raymond

    In multiple sclerosis, treatment start or switch is prompted by evidence of disease activity. Whilst immunomodulatory therapies reduce disease activity, the time required to attain maximal effect is unclear. In this study we aimed to develop a method that allows identification of the time to manifest fully and clinically the effect of multiple sclerosis treatments (‘therapeutic lag’) on clinical disease

    更新日期:2020-09-20
  • Timing is everything: tau imaging across stages of Alzheimer’s disease
    Brain (IF 11.337) Pub Date : 2020-09-18
    Anton Forsberg Morén; Andrea Varrone

    AbstractThis scientific commentary refers to ‘18F-MK-6240 PET for early and late detection of neurofibrillary tangles’, by Pascoal et al. (doi:10.1093/brain/awaa180).

    更新日期:2020-09-20
  • ‘Moving genes’: how dystonia genes functionally converge on the transcriptome
    Brain (IF 11.337) Pub Date : 2020-09-18
    Hauke Busch; Christine Klein

    AbstractThis scientific commentary refers to ‘Dystonia genes functionally converge in specific neurons and share neurobiology with psychiatric disorders’, by Mencacci et al. (doi:10.1093/brain/awaa217).

    更新日期:2020-09-20
  • Parkinson’s disease progression in the substantia nigra: location, location, location
    Brain (IF 11.337) Pub Date : 2020-09-18
    David E Vaillancourt; Trina Mitchell

    AbstractThis scientific commentary refers to ‘Spatiotemporal changes in substantia nigra neuromelanin content in Parkinson’s disease’, by Biondetti et al. (doi:10.1093/brain/awaa216

    更新日期:2020-09-20
  • Lost in sound: auditory perceptual abilities in neurodegenerative diseases
    Brain (IF 11.337) Pub Date : 2020-09-18
    Teppo Särkämö; Aleksi J Sihvonen

    AbstractThis scientific commentary refers to ‘Impairments of auditory scene analysis in posterior cortical atrophy’, by Hardy et al. (doi:10.1093/brain/awaa221).

    更新日期:2020-09-20
  • Reply: A transvenous pressure gradient mechanism behind ventriculomegaly
    Brain (IF 11.337) Pub Date : 2020-09-18
    Toshihiko Aso; Genichi Sugihara; Toshiya Murai; Shiho Ubukata; Shin-ichi Urayama; Tsukasa Ueno; Gaku Fujimoto; Dinh Ha Duy Thuy; Hidenao Fukuyama; Keita Ueda

    We thank Dr Bateman for the positive feedback and providing updates on the topic to which he has made numerous contributions (Bateman, 2020). Our interpretation already owes a debt to them and we believe that those recent works, which we failed to cite in our discussion, should have provided a clear-cut mechanism of superficial venous insufficiency. It is indeed a highlight of our study that the observation

    更新日期:2020-09-20
  • A transvenous pressure gradient mechanism behind ventriculomegaly
    Brain (IF 11.337) Pub Date : 2020-09-18
    Grant Bateman

    I read with great interest the recent paper titled ‘A venous mechanism of ventriculomegaly shared between traumatic brain injury and normal ageing’ (Aso et al., 2020). In this paper the authors suggest that ventriculomegaly is correlated with a relative increase in the resistance to blood flow in the superficial venous system of the brain compared to a preserved drainage in the deep system. The authors

    更新日期:2020-09-20
  • Impairments of auditory scene analysis in posterior cortical atrophy.
    Brain (IF 11.337) Pub Date : 2020-09-01
    Chris J D Hardy,Keir X X Yong,Johanna C Goll,Sebastian J Crutch,Jason D Warren

    Although posterior cortical atrophy is often regarded as the canonical ‘visual dementia’, auditory symptoms may also be salient in this disorder. Patients often report particular difficulty hearing in busy environments; however, the core cognitive process—parsing of the auditory environment (‘auditory scene analysis’)—has been poorly characterized. In this cross-sectional study, we used customized

    更新日期:2020-09-20
  • New genotype-phenotype correlations in a large European cohort of patients with sarcoglycanopathy.
    Brain (IF 11.337) Pub Date : 2020-09-01
    Jorge Alonso-Pérez,Lidia González-Quereda,Luca Bello,Michela Guglieri,Volker Straub,Pia Gallano,Claudio Semplicini,Elena Pegoraro,Vittoria Zangaro,Andrés Nascimento,Carlos Ortez,Giacomo Pietro Comi,Leroy Ten Dam,Marianne De Visser,A J van der Kooi,Cristina Garrido,Manuela Santos,Ulrike Schara,Andrea Gangfuß,Nicoline Løkken,Jesper Helbo Storgaard,John Vissing,Benedikt Schoser,Gabriele Dekomien,Bjarne

    Sarcoglycanopathies comprise four subtypes of autosomal recessive limb-girdle muscular dystrophies (LGMDR3, LGMDR4, LGMDR5 and LGMDR6) that are caused, respectively, by mutations in the SGCA, SGCB, SGCG and SGCD genes. In 2016, several clinicians involved in the diagnosis, management and care of patients with LGMDR3–6 created a European Sarcoglycanopathy Consortium. The aim of the present study was

    更新日期:2020-09-20
  • Spatiotemporal changes in substantia nigra neuromelanin content in Parkinson's disease.
    Brain (IF 11.337) Pub Date : 2020-08-28
    Emma Biondetti,Rahul Gaurav,Lydia Yahia-Cherif,Graziella Mangone,Nadya Pyatigorskaya,Romain Valabrègue,Claire Ewenczyk,Matthew Hutchison,Chantal François,Jean-Christophe Corvol,Marie Vidailhet,Stéphane Lehéricy

    This study aimed to investigate the spatiotemporal changes in neuromelanin-sensitive MRI signal in the substantia nigra and their relation to clinical scores of disease severity in patients with early or progressing Parkinson’s disease and patients with idiopathic rapid eye movement sleep behaviour disorder (iRBD) exempt of Parkinsonian signs compared to healthy control subjects. Longitudinal T1-weighted

    更新日期:2020-09-20
  • Hippocampus co-atrophy pattern in dementia deviates from covariance patterns across the lifespan.
    Brain (IF 11.337) Pub Date : 2020-08-27
    Anna Plachti,Shahrzad Kharabian,Simon B Eickhoff,Somayeh Maleki Balajoo,Felix Hoffstaedter,Deepthi P Varikuti,Christiane Jockwitz,Svenja Caspers,Katrin Amunts,Sarah Genon

    The hippocampus is a plastic region and highly susceptible to ageing and dementia. Previous studies explicitly imposed a priori models of hippocampus when investigating ageing and dementia-specific atrophy but led to inconsistent results. Consequently, the basic question of whether macrostructural changes follow a cytoarchitectonic or functional organization across the adult lifespan and in age-related

    更新日期:2020-09-20
  • A Māori specific RFC1 pathogenic repeat configuration in CANVAS, likely due to a founder allele.
    Brain (IF 11.337) Pub Date : 2020-08-27
    Sarah J Beecroft,Andrea Cortese,Roisin Sullivan,Wai Yan Yau,Zoe Dyer,Teddy Y Wu,Eoin Mulroy,Luciana Pelosi,Miriam Rodrigues,Rachael Taylor,Stuart Mossman,Ruth Leadbetter,James Cleland,Tim Anderson,Gianina Ravenscroft,Nigel G Laing,Henry Houlden,Mary M Reilly,Richard H Roxburgh

    Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome (CANVAS) is a recently recognized neurodegenerative disease with onset in mid- to late adulthood. The genetic basis for a large proportion of Caucasian patients was recently shown to be the biallelic expansion of a pentanucleotide (AAGGG)n repeat in RFC1. Here, we describe the first instance of CANVAS genetic testing in New

    更新日期:2020-09-20
  • A road less travelled: the centenary of cisterna magna puncture
    Brain (IF 11.337) Pub Date : 2020-08-25
    Bart Lutters; Peter J Koehler

    更新日期:2020-09-20
  • Allosteric modulation of NMDA receptors prevents the antibody effects of patients with anti-NMDAR encephalitis.
    Brain (IF 11.337) Pub Date : 2020-08-24
    Francesco Mannara,Marija Radosevic,Jesús Planagumà,David Soto,Esther Aguilar,Anna García-Serra,Estibaliz Maudes,Marta Pedreño,Steven Paul,James Doherty,Michael Quirk,Jing Dai,Xavier Gasull,Mike Lewis,Josep Dalmau

    Anti-N-methyl-d-aspartate receptor (NMDAR) encephalitis is an immune-mediated disease characterized by a complex neuropsychiatric syndrome in association with an antibody-mediated decrease of NMDAR. About 85% of patients respond to immunotherapy (and removal of an associated tumour if it applies), but it often takes several months or more than 1 year for patients to recover. There are no complementary

    更新日期:2020-09-20
  • A clinical-radiological framework of the right temporal variant of frontotemporal dementia.
    Brain (IF 11.337) Pub Date : 2020-08-24
    Hulya Ulugut Erkoyun,Colin Groot,Ronja Heilbron,Anne Nelissen,Jonathan van Rossum,Roos Jutten,Ted Koene,Wiesje M van der Flier,Mike P Wattjes,Philip Scheltens,Rik Ossenkoppele,Frederik Barkhof,Yolande Pijnenburg

    The concept of the right temporal variant of frontotemporal dementia (rtvFTD) is still equivocal. The syndrome accompanying predominant right anterior temporal atrophy has previously been described as memory loss, prosopagnosia, getting lost and behavioural changes. Accurate detection is challenging, as the clinical syndrome might be confused with either behavioural variant FTD (bvFTD) or Alzheimer’s

    更新日期:2020-09-20
  • Limbic-predominant age-related TDP-43 encephalopathy differs from frontotemporal lobar degeneration.
    Brain (IF 11.337) Pub Date : 2020-08-24
    John L Robinson,Sílvia Porta,Filip G Garrett,Panpan Zhang,Sharon X Xie,EunRan Suh,Vivianna M Van Deerlin,Erin L Abner,Gregory A Jicha,Justin M Barber,Virginia M-Y Lee,Edward B Lee,John Q Trojanowski,Peter T Nelson

    TAR-DNA binding protein-43 (TDP-43) proteinopathy is seen in multiple brain diseases. A standardized terminology was recommended recently for common age-related TDP-43 proteinopathy: limbic-predominant, age-related TDP-43 encephalopathy (LATE) and the underlying neuropathological changes, LATE-NC. LATE-NC may be co-morbid with Alzheimer’s disease neuropathological changes (ADNC). However, there currently

    更新日期:2020-09-20
  • Connexins in neuromyelitis optica: a link between astrocytopathy and demyelination.
    Brain (IF 11.337) Pub Date : 2020-08-21
    Chloé Richard,Anne Ruiz,Sylvie Cavagna,Maxime Bigotte,Sandra Vukusic,Katsuhisa Masaki,Toshihiko Suenaga,Jun-Ichi Kira,Pascale Giraudon,Romain Marignier

    Neuromyelitis optica, a rare neuroinflammatory demyelinating disease of the CNS, is characterized by the presence of specific pathogenic autoantibodies directed against the astrocytic water channel aquaporin 4 (AQP4) and is now considered as an astrocytopathy associated either with complement-dependent astrocyte death or with astrocyte dysfunction. However, the link between astrocyte dysfunction and

    更新日期:2020-09-20
  • Dystonia genes functionally converge in specific neurons and share neurobiology with psychiatric disorders.
    Brain (IF 11.337) Pub Date : 2020-08-21
    Niccolò E Mencacci,Regina Reynolds,Sonia Garcia Ruiz,Jana Vandrovcova,Paola Forabosco,Alvaro Sánchez-Ferrer,Viola Volpato,,,Michael E Weale,Kailash P Bhatia,Caleb Webber,John Hardy,Juan A Botía,Mina Ryten

    Dystonia is a neurological disorder characterized by sustained or intermittent muscle contractions causing abnormal movements and postures, often occurring in absence of any structural brain abnormality. Psychiatric comorbidities, including anxiety, depression, obsessive-compulsive disorder and schizophrenia, are frequent in patients with dystonia. While mutations in a fast-growing number of genes

    更新日期:2020-09-20
  • Expanding the clinical and genetic spectrum of PCYT2-related disorders.
    Brain (IF 11.337) Pub Date : 2020-08-21
    Valentina Vélez-Santamaría,Edgard Verdura,Colleen Macmurdo,Laura Planas-Serra,Agatha Schlüter,Josefina Casas,Juan José Martínez,Carlos Casasnovas,Yue Si,Stephanie S Thompson,Reza Maroofian,Aurora Pujol

    Recently, Vaz et al. reported four families with complex hereditary spastic paraplegia (cHSP) and biallelic variants in PCYT2 encoding CTP: phosphoethanolamine cytidylyltransferase (ET), the rate-limiting enzyme for phosphatidylethanolamine biosynthesis. Patient-derived fibroblasts and plasma had significant abnormalities in both neutral etherlipid and etherphospholipid metabolism (Vaz et al., 2019)

    更新日期:2020-09-20
  • Reply: Expanding the clinical and genetic spectrum of PCYT2-related disorders.
    Brain (IF 11.337) Pub Date : 2020-08-21
    Frédéric M Vaz,John H McDermott,Marc Engelen,Siddharth Banka

    We read the letter by Vélez-Santamaría et al. (2020) describing two new cases of PCYT2 deficiency with great interest. We recently described, for the first time, a new form of complex hereditary spastic paraplegia (HSP) caused by CTP: phosphoethanolamine cytidylyltransferase deficiency (Vaz et al., 2019). CTP: phosphoethanolamine cytidylyltransferase, encoded by PCYT2, is the rate-limiting enzyme of

    更新日期:2020-09-20
  • Phosphorylated tau interactome in the human Alzheimer's disease brain.
    Brain (IF 11.337) Pub Date : 2020-08-19
    Eleanor Drummond,Geoffrey Pires,Claire MacMurray,Manor Askenazi,Shruti Nayak,Marie Bourdon,Jiri Safar,Beatrix Ueberheide,Thomas Wisniewski

    Accumulation of phosphorylated tau is a key pathological feature of Alzheimer’s disease. Phosphorylated tau accumulation causes synaptic impairment, neuronal dysfunction and formation of neurofibrillary tangles. The pathological actions of phosphorylated tau are mediated by surrounding neuronal proteins; however, a comprehensive understanding of the proteins that phosphorylated tau interacts with in

    更新日期:2020-09-20
  • Improved relapse recovery in paediatric compared to adult multiple sclerosis.
    Brain (IF 11.337) Pub Date : 2020-08-18
    Tanuja Chitnis,Greg Aaen,Anita Belman,Leslie Benson,Mark Gorman,Manu S Goyal,Jennifer S Graves,Yolanda Harris,Lauren Krupp,Timothy Lotze,Soe Mar,Jayne Ness,Mary Rensel,Teri Schreiner,Jan-Mendelt Tillema,Emmanuelle Waubant,Bianca Weinstock-Guttman,Shelly Roalstad,John Rose,Howard L Weiner,T Charles Casper,Moses Rodriguez

    Incomplete relapse recovery contributes to disability accrual and earlier onset of secondary progressive multiple sclerosis. We sought to investigate the effect of age on relapse recovery. We identified patients with multiple sclerosis from two longitudinal prospective studies, with an Expanded Disability Status Scale (EDSS) score within 30 days after onset of an attack, and follow-up EDSS 6 months

    更新日期:2020-09-20
  • Differential medication overuse risk of novel anti-migraine therapeutics.
    Brain (IF 11.337) Pub Date : 2020-08-18
    Chonlawan Saengjaroentham,Lauren C Strother,Isaac Dripps,Mohammad Rayhan Sultan Jabir,Amynah Pradhan,Peter J Goadsby,Philip R Holland

    Medication overuse headache is estimated to affect 2% of the population, and is ranked in the top 20 most disabling disorders due to its high level of disability. Several therapies used in the treatment of acute migraine are thought to be associated with medication overuse headache, including opioids and triptans. With limited treatment options, it is critical to determine the risk profile of novel

    更新日期:2020-09-20
  • Lack of evidence for genetic association of saposins A, B, C and D with Parkinson's disease.
    Brain (IF 11.337) Pub Date : 2020-08-13
    Yuri Ludwig Sosero,Sara Bandres-Ciga,Sharon Hassin-Baer,Roy N Alcalay,Ziv Gan-Or

    We read with much interest the paper by Oji et al. (2020), which suggested an association between mutations in the saposin D region of PSAP and Parkinson’s disease. In their paper, the authors showed that variants in saposin D only partially segregate with Parkinson’s disease in three families of Japanese origin. For example, in Family 1, at least three carriers of the PSAP p.Q453P variant did not

    更新日期:2020-09-20
  • Saposin D variants are not a common cause of familial Parkinson's disease among Italians.
    Brain (IF 11.337) Pub Date : 2020-08-13
    Daniele Facchi,Valeria Rimoldi,Letizia Straniero,Elvezia Maria Paraboschi,Giulia Soldà,Anna L Zecchinelli,Roberto Cilia,Stefano Duga,Gianni Pezzoli,Rosanna Asselta

    We read with great interest the work by Oji et al. (2020) entitled ‘Variants in saposin D domain of prosaposin gene linked to Parkinson’s disease’, as we were also undertaking a genetic screening of the saposin D domain of prosaposin gene (PSAP). Saposins act as cofactors for different lysosomal hydroxylases, promoting their catalytic activity (Kishimoto et al., 1992). To date, it is widely accepted

    更新日期:2020-09-20
  • Reply: Saposin D variants are not a common cause of familial Parkinson's disease among Italians; and Lack of evidence for genetic association of saposins A, B, C and D with Parkinson's disease.
    Brain (IF 11.337) Pub Date : 2020-08-13
    Yutaka Oji,Taku Hatano,Manabu Funayama,Nobutaka Hattori

    We thank Facchi and colleagues, and Sosero and colleagues for their interest in our article and for their analysis of PSAP variants using a Western European cohort study of Parkinson’s disease (Facchi et al., 2020; Sosero et al., 2020). We reported three pathogenic PSAP mutations (c.1358A>C, p.Q453P; c.1431G>A, p.C451_L477del; and c.1235G>A, p.C412Y) for Japanese patients with autosomal dominant Parkinson’s

    更新日期:2020-09-20
  • Corrigendum to: Targeting Gpr52 lowers mutant HTT levels and rescues Huntington's disease-associated phenotypes.
    Brain (IF 11.337) Pub Date : 2020-08-03
    Morris H.

    Haikun Song, Hexuan Li, Shimeng Guo, Yuyin Pan, Yuhua Fu, Zijian Zhou, Zhaoyang Li, Xue Wen, Xiaoli Sun, Bingqing He, Haifeng Gu, Quan Zhao, Cen Wang, Ping An, Shouqing Luo, Youhong Hu, Xin Xie, Boxun Lu. Targeting Gpr52 lowers mutant HTT levels and rescues Huntington’s disease-associated phenotypes. Brain 2018; 141: 1782–1798. doi:10.1093/brain/awy081.

    更新日期:2020-09-20
  • The apparently milder course of multiple sclerosis: changes in the diagnostic criteria, therapy and natural history.
    Brain (IF 11.337) Pub Date : 2020-07-24
    Per Soelberg Sorensen,Finn Sellebjerg,Hans-Peter Hartung,Xavier Montalban,Giancarlo Comi,Mar Tintoré

    In the past decade, changes have occurred in the spectrum of multiple sclerosis courses. The natural history of multiple sclerosis appears milder from the first sign of demyelinating disease to the progressive course, probably as a result of an interplay between several factors including changes in the diagnostic criteria, changes in the epidemiology of multiple sclerosis, impact of early and appropriate

    更新日期:2020-09-20
  • 18F-MK-6240 PET for early and late detection of neurofibrillary tangles.
    Brain (IF 11.337) Pub Date : 2020-07-16
    Tharick A Pascoal,Joseph Therriault,Andrea L Benedet,Melissa Savard,Firoza Z Lussier,Mira Chamoun,Cécile Tissot,Muhammad Naveed Iqbal Qureshi,Min Su Kang,Sulantha Mathotaarachchi,Jenna Stevenson,Robert Hopewell,Gassan Massarweh,Jean-Paul Soucy,Serge Gauthier,Pedro Rosa-Neto

    Braak stages of tau neurofibrillary tangle accumulation have been incorporated in the criteria for the neuropathological diagnosis of Alzheimer’s disease. It is expected that Braak staging using brain imaging can stratify living individuals according to their individual patterns of tau deposition, which may prove crucial for clinical trials and practice. However, previous studies using the first-generation

    更新日期:2020-09-20
  • Erratum.
    Brain (IF 11.337) Pub Date : 2020-07-13
    Bradbury E, Oliveira R.

    Ilse Eidhof, Jonathan Baets, Erik-Jan Kamsteeg, Annette Schenck, Bart P. van de Warrenburg. Reply: Novel GDAP2 pathogenic variants cause autosomal recessive spinocerebellar ataxia-27 (SCAR27) in a Chinese family. Brain 2020; 143: e51. https://doi.org.10.1093/brain/awaa122.

    更新日期:2020-09-20
  • Graded, multidimensional intra- and intergroup variations in primary progressive aphasia and post-stroke aphasia
    Brain (IF 11.337) Pub Date : 2020-09-17
    Ruth U Ingram; Ajay D Halai; Gorana Pobric; Seyed Sajjadi; Karalyn Patterson; Matthew A Lambon Ralph

    Language impairments caused by stroke (post-stroke aphasia, PSA) and neurodegeneration (primary progressive aphasia, PPA) have overlapping symptomatology, nomenclature and are classically divided into categorical subtypes. Surprisingly, PPA and PSA have rarely been directly compared in detail. Rather, previous studies have compared certain subtypes (e.g. semantic variants) or have focused on a specific

    更新日期:2020-09-18
  • Corrigendum to: A venous mechanism of ventriculomegaly shared between traumatic brain injury and normal ageing
    Brain (IF 11.337) Pub Date : 2020-09-16
    Hatton S, Huynh K, Bonilha L, et al.

    AbstractThe epilepsies are commonly accompanied by widespread abnormalities in cerebral white matter. ENIGMA-Epilepsy is a large quantitative brain imaging consortium, aggregating data to investigate patterns of neuroimaging abnormalities in common epilepsy syndromes, including temporal lobe epilepsy, extratemporal epilepsy, and genetic generalized epilepsy. Our goal was to rank the most robust white

    更新日期:2020-09-18
  • 7 T imaging reveals a gradient in spinal cord lesion distribution in multiple sclerosis
    Brain (IF 11.337) Pub Date : 2020-09-16
    Russell Ouellette; Constantina A Treaba; Tobias Granberg; Elena Herranz; Valeria Barletta; Ambica Mehndiratta; Benjamin De Leener; Shahamat Tauhid; Fawad Yousuf; Sarah M Dupont; Eric C Klawiter; Jacob A Sloane; Rohit Bakshi; Julien Cohen-Adad; Caterina Mainero

    We used 7 T MRI to: (i) characterize the grey and white matter pathology in the cervical spinal cord of patients with early relapsing-remitting and secondary progressive multiple sclerosis; (ii) assess the spinal cord lesion spatial distribution and the hypothesis of an outside-in pathological process possibly driven by CSF-mediated immune cytotoxic factors; and (iii) evaluate the association of spinal

    更新日期:2020-09-16
  • Neuropathological correlates of cortical superficial siderosis in cerebral amyloid angiopathy
    Brain (IF 11.337) Pub Date : 2020-09-16
    Andreas Charidimou; Valentina Perosa; Matthew P Frosch; Ashley A Scherlek; Steven M Greenberg; Susanne J van Veluw

    Cortical superficial siderosis is an established haemorrhagic neuroimaging marker of cerebral amyloid angiopathy. In fact, cortical superficial siderosis is emerging as a strong independent risk factor for future lobar intracerebral haemorrhage. However, the underlying neuropathological correlates and pathophysiological mechanisms of cortical superficial siderosis remain elusive. Here we use an in

    更新日期:2020-09-16
  • Disease-modifying drugs can reduce disability progression in relapsing multiple sclerosis
    Brain (IF 11.337) Pub Date : 2020-09-16
    Maria Pia Amato; Mattia Fonderico; Emilio Portaccio; Luisa Pastò; Lorenzo Razzolini; Elio Prestipino; Angelo Bellinvia; Laura Tudisco; Roberto Fratangelo; Giancarlo Comi; Francesco Patti; Giovanna De Luca; Vincenzo Brescia Morra; Eleonora Cocco; Carlo Pozzilli; Patrizia Sola; Roberto Bergamaschi; Giuseppe Salemi; Matilde Inglese; Enrico Millefiorini; Simonetta Galgani; Mauro Zaffaroni; Angelo Ghezzi;

    An ever-expanding number of disease-modifying drugs for multiple sclerosis have become available in recent years, after demonstrating efficacy in clinical trials. In the real-world setting, however, disease-modifying drugs are prescribed in patient populations that differ from those included in pivotal studies, where extreme age patients are usually excluded or under-represented. In this multicentre

    更新日期:2020-09-16
  • Human stem cell-derived astrocytes exhibit region-specific heterogeneity in their secretory profiles
    Brain (IF 11.337) Pub Date : 2020-09-08
    Benjamin E Clarke; Doaa M Taha; Oliver J Ziff; Aftab Alam; Eric P Thelin; Núria Marcó García; Adel Helmy; Rickie Patani

    AbstractThe epilepsies are commonly accompanied by widespread abnormalities in cerebral white matter. ENIGMA-Epilepsy is a large quantitative brain imaging consortium, aggregating data to investigate patterns of neuroimaging abnormalities in common epilepsy syndromes, including temporal lobe epilepsy, extratemporal epilepsy, and genetic generalized epilepsy. Our goal was to rank the most robust white

    更新日期:2020-09-08
  • Autoimmune encephalitis mediated by B-cell response against N-methyl-d-aspartate receptor.
    Brain (IF 11.337) Pub Date : 2020-09-07
    Isabelle Wagnon,Pauline Hélie,Isabelle Bardou,Caroline Regnauld,Léonie Lesec,Jerôme Leprince,Mikaël Naveau,Barbara Delaunay,Olivier Toutirais,Brigitte Lemauff,Olivier Etard,Denis Vivien,Véronique Agin,Richard Macrez,Eric Maubert,Fabian Docagne

    Anti-N-methyl-d-aspartate receptor (NMDAR) encephalitis is a neuropsychiatric disease characterized by an antibody-mediated autoimmune response against NMDAR. Recent studies have shown that anti-NMDAR antibodies are involved in the pathophysiology of the disease. However, the upstream immune and inflammatory processes responsible for this pathogenic response are still poorly understood. Here, we immunized

    更新日期:2020-09-07
  • Vascular disease and multiple sclerosis: a post-mortem study exploring their relationships.
    Brain (IF 11.337) Pub Date : 2020-09-02
    Ruth Geraldes,Margaret M Esiri,Rafael Perera,Sydney A Yee,Damian Jenkins,Jacqueline Palace,Gabriele C DeLuca

    Vascular comorbidities have a deleterious impact on multiple sclerosis clinical outcomes but it is unclear whether this is mediated by an excess of extracranial vascular disease (i.e. atherosclerosis) and/or of cerebral small vessel disease or worse multiple sclerosis pathology. To address these questions, a study using a unique post-mortem cohort wherein whole body autopsy reports and brain tissue

    更新日期:2020-09-02
  • White matter abnormalities across different epilepsy syndromes in adults: an ENIGMA-Epilepsy study.
    Brain (IF 11.337) Pub Date : 2020-08-28
    Sean N Hatton,Khoa H Huynh,Leonardo Bonilha,Eugenio Abela,Saud Alhusaini,Andre Altmann,Marina K M Alvim,Akshara R Balachandra,Emanuele Bartolini,Benjamin Bender,Neda Bernasconi,Andrea Bernasconi,Boris Bernhardt,Núria Bargallo,Benoit Caldairou,Maria E Caligiuri,Sarah J A Carr,Gianpiero L Cavalleri,Fernando Cendes,Luis Concha,Esmaeil Davoodi-Bojd,Patricia M Desmond,Orrin Devinsky,Colin P Doherty,Martin

    The epilepsies are commonly accompanied by widespread abnormalities in cerebral white matter. ENIGMA-Epilepsy is a large quantitative brain imaging consortium, aggregating data to investigate patterns of neuroimaging abnormalities in common epilepsy syndromes, including temporal lobe epilepsy, extratemporal epilepsy, and genetic generalized epilepsy. Our goal was to rank the most robust white matter

    更新日期:2020-08-26
  • Persistence of the 'broken escalator' phenomenon in functional gait disorder: mechanistic insights.
    Brain (IF 11.337) Pub Date : 2020-08-25
    David L Perez

    AbstractThis scientific commentary refers to ‘Dissociated motor learning and de-adaptation in patients with functional gait disorders’, by Lin etal. (doi:10.1093/brain/awaa190)

    更新日期:2020-08-26
  • Editorial.
    Brain (IF 11.337) Pub Date : 2020-08-25
    Dimitri M Kullmann

    Every summer brings a moment of trepidation when Clarivate release the latest Journal Impact Factors (JIFs), the most notorious ‘scientometric’ proxy for the importance or influence of scientific publications. Last year Brain saw a substantial increase from 10.848 to 11.814. This year, the JIF (calculated for citations in 2019) has ‘relaxed’ to 11.337, but there is a silver lining: the 5-year JIF for

    更新日期:2020-08-26
  • Gut metagenomics-derived genes as potential biomarkers of Parkinson's disease.
    Brain (IF 11.337) Pub Date : 2020-08-25
    Yiwei Qian,Xiaodong Yang,Shaoqing Xu,Pei Huang,Binyin Li,Juanjuan Du,Yixi He,Binghua Su,Li-Ming Xu,Liang Wang,Ruocheng Huang,Shengdi Chen,Qin Xiao

    Identification of the gut microbiome compositions associated with disease has become a research focus worldwide. Emerging evidence has revealed the presence of gut microbiota dysbiosis in Parkinson’s disease. In this study, we aimed to identify the gut microbiome associated with Parkinson’s disease and subsequently to screen and to validate potential diagnostic biomarkers of Parkinson’s disease. This

    更新日期:2020-08-26
  • Dopamine is associated with prioritization of reward-associated memories in Parkinson's disease.
    Brain (IF 11.337) Pub Date : 2020-08-25
    Madeleine E Sharp,Katherine Duncan,Karin Foerde,Daphna Shohamy

    Patients with Parkinson’s disease have reduced reward sensitivity related to dopaminergic neuron loss, which is associated with impairments in reinforcement learning. Increasingly, however, dopamine-dependent reward signals are recognized to play an important role beyond reinforcement learning. In particular, it has been shown that reward signals mediated by dopamine help guide the prioritization of

    更新日期:2020-08-26
  • The FUS about SFPQ in FTLD spectrum disorders.
    Brain (IF 11.337) Pub Date : 2020-08-25
    Rickie Patani

    AbstractThis scientific commentary refers to ‘Aberrant interaction between FUS and SFPQ in neurons of a wide range of FTLD spectrum diseases’, by Ishigaki etal. (doi:10.1093/brain/awaa196).

    更新日期:2020-08-26
  • Long duration response in Parkinson's disease: levodopa revisited.
    Brain (IF 11.337) Pub Date : 2020-08-24
    Werner Poewe,Alberto J Espay

    AbstractThis scientific commentary refers to ‘Natural history of motor symptoms in Parkinson’s disease and the long-duration response to levodopa’, by Cilia etal. (doi:10.1093/brain/awaa181).

    更新日期:2020-08-26
  • Sodium channel Nav1.6 in sensory neurons contributes to vincristine-induced allodynia.
    Brain (IF 11.337) Pub Date : 2020-08-23
    Lubin Chen,Jianying Huang,Curtis Benson,Karen L Lankford,Peng Zhao,Jennifer Carrara,Andrew M Tan,Jeffery D Kocsis,Stephen G Waxman,Sulayman D Dib-Hajj

    Vincristine, a widely used chemotherapeutic agent, produces painful peripheral neuropathy. The underlying mechanisms are not well understood. In this study, we investigated whether voltage-gated sodium channels are involved in the development of vincristine-induced neuropathy. We established a mouse model in which repeated systemic vincristine treatment results in the development of significant mechanical

    更新日期:2020-08-26
  • Taking the sublexical route: brain dynamics of reading in the semantic variant of primary progressive aphasia.
    Brain (IF 11.337) Pub Date : 2020-08-13
    Valentina Borghesani,Leighton B N Hinkley,Kamalini G Ranasinghe,Megan M C Thompson,Wendy Shwe,Danielle Mizuiri,Michael Lauricella,Eduardo Europa,Susanna Honma,Zachary Miller,Bruce Miller,Keith Vossel,Maya M L Henry,John F Houde,Maria L Gorno-Tempini,Srikantan S Nagarajan

    Reading aloud requires mapping an orthographic form to a phonological one. The mapping process relies on sublexical statistical regularities (e.g. ‘oo’ to |uː|) or on learned lexical associations between a specific visual form and a series of sounds (e.g. yacht to/jɑt/). Computational, neuroimaging, and neuropsychological evidence suggest that sublexical, phonological and lexico-semantic processes

    更新日期:2020-08-26
  • NOTCH2NLC-linked neuronal intranuclear inclusion body disease and fragile X-associated tremor/ataxia syndrome.
    Brain (IF 11.337) Pub Date : 2020-08-13
    Adeline S L Ng,Zheyu Xu,Zhiyong Chen,Yi Jayne Tan,Weng Khong Lim,Simon K S Ting,Wai Yung Yu,Qian Hui Cheng,Jia Nee Foo,Eng King Tan,Tchoyoson C C Lim

    We read with interest two separate reports in Brain (Sone et al., 2016; Sun et al., 2020) on neuronal intranuclear inclusion body disease (NIID), a neurodegenerative disease characterized by eosinophilic intranuclear inclusions in neuronal and glial cells. Sone et al. (2016) had initially reported clinically well characterized cases of NIID that included clinical features of dementia, muscle weakness

    更新日期:2020-08-26
  • Paraspeckle components NONO and PSPC1 are not mislocalized from motor neuron nuclei in sporadic ALS.
    Brain (IF 11.337) Pub Date : 2020-08-10
    Giulia E Tyzack,Giulia Manferrari,Jia Newcombe,Nicholas M Luscombe,Raphaelle Luisier,Rickie Patani

    Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease characterized by the progressive loss of upper and lower motor neurons. Although its precise aetiopathogenesis remains unclear, cellular hallmarks of the disease include the deregulation of RNA metabolism and the mislocalization of RNA binding proteins (RBPs) from the nucleus to the cytoplasm (Butti and Patten, 2018). We recently

    更新日期:2020-08-26
  • Loss of supervillin causes myopathy with myofibrillar disorganization and autophagic vacuoles.
    Brain (IF 11.337) Pub Date : 2020-08-10
    Carola Hedberg-Oldfors,Robert Meyer,Kay Nolte,Yassir Abdul Rahim,Christopher Lindberg,Kristjan Karason,Inger Johanne Thuestad,Kittichate Visuttijai,Mats Geijer,Matthias Begemann,Florian Kraft,Eva Lausberg,Lea Hitpass,Rebekka Götzl,Elizabeth J Luna,Hanns Lochmüller,Steffen Koschmieder,Michael Gramlich,Burkhard Gess,Miriam Elbracht,Joachim Weis,Ingo Kurth,Anders Oldfors,Cordula Knopp

    The muscle specific isoform of the supervillin protein (SV2), encoded by the SVIL gene, is a large sarcolemmal myosin II- and F-actin-binding protein. Supervillin (SV2) binds and co-localizes with costameric dystrophin and binds nebulin, potentially attaching the sarcolemma to myofibrillar Z-lines. Despite its important role in muscle cell physiology suggested by various in vitro studies, there are

    更新日期:2020-08-26
  • Dissociated motor learning and de-adaptation in patients with functional gait disorders.
    Brain (IF 11.337) Pub Date : 2020-08-10
    Denise Lin,Patricia Castro,Amy Edwards,Akila Sekar,Mark J Edwards,Jan Coebergh,Adolfo M Bronstein,Diego Kaski

    Walking onto a stationary platform that had been previously experienced as moving generates a locomotor after-effect—the so-called ‘broken escalator’ phenomenon. The motor responses that occur during locomotor after-effects have been mapped theoretically using a hierarchal Bayesian model of brain function that takes into account current sensory information that is weighted according to prior contextually-relevant

    更新日期:2020-08-26
  • Aberrant interaction between FUS and SFPQ in neurons in a wide range of FTLD spectrum diseases.
    Brain (IF 11.337) Pub Date : 2020-08-08
    Shinsuke Ishigaki,Yuichi Riku,Yusuke Fujioka,Kuniyuki Endo,Nobuyuki Iwade,Kaori Kawai,Minaka Ishibashi,Satoshi Yokoi,Masahisa Katsuno,Hirohisa Watanabe,Keiko Mori,Akio Akagi,Osamu Yokota,Seishi Terada,Ito Kawakami,Naoki Suzuki,Hitoshi Warita,Masashi Aoki,Mari Yoshida,Gen Sobue

    Fused in sarcoma (FUS) is genetically and clinicopathologically linked to frontotemporal lobar degeneration (FTLD) and amyotrophic lateral sclerosis (ALS). We have previously reported that intranuclear interactions of FUS and splicing factor, proline- and glutamine-rich (SFPQ) contribute to neuronal homeostasis. Disruption of the FUS-SFPQ interaction leads to an increase in the ratio of 4-repeat tau

    更新日期:2020-08-26
  • Biallelic MADD variants cause a phenotypic spectrum ranging from developmental delay to a multisystem disorder.
    Brain (IF 11.337) Pub Date : 2020-08-06
    Pauline E Schneeberger,Fanny Kortüm,Georg Christoph Korenke,Malik Alawi,René Santer,Mathias Woidy,Daniela Buhas,Stephanie Fox,Jane Juusola,Majid Alfadhel,Bryn D Webb,Emanuele G Coci,Rami Abou Jamra,Manuela Siekmeyer,Saskia Biskup,Corina Heller,Esther M Maier,Poupak Javaher-Haghighi,Maria F Bedeschi,Paola F Ajmone,Maria Iascone,Hilde Peeters,Katleen Ballon,Jaak Jaeken,Aroa Rodríguez Alonso,María Palomares-Bralo

    In pleiotropic diseases, multiple organ systems are affected causing a variety of clinical manifestations. Here, we report a pleiotropic disorder with a unique constellation of neurological, endocrine, exocrine, and haematological findings that is caused by biallelic MADD variants. MADD, the mitogen-activated protein kinase (MAPK) activating death domain protein, regulates various cellular functions

    更新日期:2020-08-26
  • Dopamine and reward hypersensitivity in Parkinson's disease with impulse control disorder.
    Brain (IF 11.337) Pub Date : 2020-08-06
    Daniel S Drew,Kinan Muhammed,Fahd Baig,Mark Kelly,Youssuf Saleh,Nagaraja Sarangmat,David Okai,Michele Hu,Sanjay Manohar,Masud Husain

    Impulse control disorders in Parkinson’s disease are common neuropsychiatric complications associated with dopamine replacement therapy. Some patients treated with dopamine agonists develop pathological behaviours, such as gambling, compulsive eating, shopping, or disinhibited sexual behaviours, which can have a severe impact on their lives and that of their families. In this study we investigated

    更新日期:2020-08-26
  • Reply: Another case of holoprosencephaly associated with RAD21 loss-of-function variant.
    Brain (IF 11.337) Pub Date : 2020-07-26
    Paul Kruszka

    Goel and Parasivam (2020) report the fourth pregnancy with a loss-of-function variant in RAD21 that was affected by holoprosencephaly (HPE) and the 16th case of HPE with a variant in a cohesin complex gene (Kruszka et al., 2019a). Importantly, this RAD21 variant was found on a clinical exome (4702 genes) and not a prior HPE-specific gene panel. Most commercially available gene panels do not have the

    更新日期:2020-08-26
  • Impaired glymphatic function and clearance of tau in an Alzheimer's disease model.
    Brain (IF 11.337) Pub Date : 2020-07-23
    Ian F Harrison,Ozama Ismail,Asif Machhada,Niall Colgan,Yolanda Ohene,Payam Nahavandi,Zeshan Ahmed,Alice Fisher,Soraya Meftah,Tracey K Murray,Ole P Ottersen,Erlend A Nagelhus,Michael J O'Neill,Jack A Wells,Mark F Lythgoe

    The glymphatic system, that is aquaporin 4 (AQP4) facilitated exchange of CSF with interstitial fluid (ISF), may provide a clearance pathway for protein species such as amyloid-β and tau, which accumulate in the brain in Alzheimer’s disease. Further, tau protein transference via the extracellular space, the compartment that is cleared by the glymphatic pathway, allows for its neuron-to-neuron propagation

    更新日期:2020-08-26
  • Structural white matter connectometry of word production in aphasia: an observational study.
    Brain (IF 11.337) Pub Date : 2020-07-23
    William D Hula,Sandip Panesar,Michelle L Gravier,Fang-Cheng Yeh,Haley C Dresang,Michael Walsh Dickey,Juan C Fernandez-Miranda

    While current dual-steam neurocognitive models of language function have coalesced around the view that distinct neuroanatomical networks subserve semantic and phonological processing, respectively, the specific white matter components of these networks remain a matter of debate. To inform this debate, we investigated relationships between structural white matter connectivity and word production in

    更新日期:2020-08-26
  • Early-infantile onset epilepsy and developmental delay caused by bi-allelic GAD1 variants.
    Brain (IF 11.337) Pub Date : 2020-07-23
    Caroline Neuray,Reza Maroofian,Marcello Scala,Tipu Sultan,Gurpur S Pai,Majid Mojarrad,Heba El Khashab,Leigh deHoll,Wyatt Yue,Hessa S Alsaif,Maria N Zanetti,Oscar Bello,Richard Person,Atieh Eslahi,Zaynab Khazaei,Masoumeh H Feizabadi,Stephanie Efthymiou,,Hala T El-Bassyouni,Doaa R Soliman,Selahattin Tekes,Leyla Ozer,Volkan Baltaci,Suliman Khan,Christian Beetz,Khalda S Amr,Vincenzo Salpietro,Yalda Jamshidi

    Gamma-aminobutyric acid (GABA) and glutamate are the most abundant amino acid neurotransmitters in the brain. GABA, an inhibitory neurotransmitter, is synthesized by glutamic acid decarboxylase (GAD). Its predominant isoform GAD67, contributes up to ∼90% of base-level GABA in the CNS, and is encoded by the GAD1 gene. Disruption of GAD1 results in an imbalance of inhibitory and excitatory neurotransmitters

    更新日期:2020-08-26