当前期刊: Brain Go to current issue    加入关注    本刊投稿指南
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
  • Optimizing treatment strategies in paediatric, adult and late-onset multiple sclerosis
    Brain (IF 11.337) Pub Date : 2020-10-25
    Cristina Gaudioso; Robert T Naismith

    This scientific commentary refers to ‘Disease-modifying drugs can reduce disability progression in paediatric, adult and late-onset relapsing multiple sclerosis’, by Amato etal. (doi:10.1093/brain/awaa251).

    更新日期:2020-10-26
  • Editorial
    Brain (IF 11.337) Pub Date : 2020-10-25
    Dimitri M Kullmann

    The cover of this issue of Brain relates to the article by Ross Paterson, Rachel Brown and co-workers that describes the range of neurological presentations in patients with definite, probable or possible COVID-19 encountered in a series of multidisciplinary team meetings organized at a single neurological centre. The commonest CNS disorders encountered were encephalopathy without obvious structural

    更新日期:2020-10-26
  • Body-first versus brain-first biological subtyping of Parkinson’s disease
    Brain (IF 11.337) Pub Date : 2020-10-25
    Nicolaas I Bohnen; Ronald B Postuma

    This scientific commentary refers to ‘Brain-first versus body-first Parkinson’s disease: a multi-modal imaging case-control study’, by Horsager etal. (doi:10.1093/brain/awaa238).

    更新日期:2020-10-26
  • One person, two minds
    Brain (IF 11.337) Pub Date : 2020-10-25
    Michael Corballis

    更新日期:2020-10-26
  • Clinical and pathogenic themes in hereditary spastic paraplegia
    Brain (IF 11.337) Pub Date : 2020-10-25
    Thomas T Warner

    This scientific commentary refers to ‘Defining the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegia’, by Ebrahimi-Fakhari etal. (doi:10.1093/brain/awz307).

    更新日期:2020-10-26
  • Lowering the risk of Parkinson’s disease with GLP-1 agonists and DPP4 inhibitors in type 2 diabetes
    Brain (IF 11.337) Pub Date : 2020-10-25
    Ece Bayram; Irene Litvan

    This scientific commentary refers to ‘Diabetes medications and risk of Parkinson’s disease: a cohort study of patients with diabetes’, by Brauer etal. (doi:10.1093/brain/awaa262).

    更新日期:2020-10-26
  • A novel RFC1 repeat motif (ACAGG) in two Asia-Pacific CANVAS families
    Brain (IF 11.337) Pub Date : 2020-10-25
    Carolin K Scriba; Sarah J Beecroft; Joshua S Clayton; Andrea Cortese; Roisin Sullivan; Wai Yan Yau; Natalia Dominik; Miriam Rodrigues; Elizabeth Walker; Zoe Dyer; Teddy Y Wu; Mark R Davis; David C Chandler; Ben Weisburd; Henry Houlden; Mary M Reilly; Nigel G Laing; Phillipa J Lamont; Richard H Roxburgh; Gianina Ravenscroft

    Cerebellar ataxia, neuropathy and vestibular areflexia syndrome (CANVAS) is a progressive late-onset, neurological disease. Recently, a pentanucleotide expansion in intron 2 of RFC1 was identified as the genetic cause of CANVAS. We screened an Asian-Pacific cohort for CANVAS and identified a novel RFC1 repeat expansion motif, (ACAGG)exp, in three affected individuals. This motif was associated with

    更新日期:2020-10-26
  • YIF1B mutations cause a post-natal neurodevelopmental syndrome associated with Golgi and primary cilium alterations
    Brain (IF 11.337) Pub Date : 2020-10-25
    Jorge Diaz; Xavier Gérard; Michel-Boris Emerit; Julie Areias; David Geny; Julie Dégardin; Manuel Simonutti; Marie-Justine Guerquin; Thibault Collin; Cécile Viollet; Jean-Marie Billard; Christine Métin; Laurence Hubert; Farzaneh Larti; Kimia Kahrizi; Rebekah Jobling; Emanuele Agolini; Ranad Shaheen; Alban Zigler; Virginie Rouiller-Fabre; Jean-Michel Rozet; Serge Picaud; Antonio Novelli; Seham Alameer;

    Human post-natal neurodevelopmental delay is often associated with cerebral alterations that can lead, by themselves or associated with peripheral deficits, to premature death. Here, we report the clinical features of 10 patients from six independent families with mutations in the autosomal YIF1B gene encoding a ubiquitous protein involved in anterograde traffic from the endoplasmic reticulum to the

    更新日期:2020-10-26
  • Mitochondrial damage-associated inflammation highlights biomarkers in PRKN/PINK1 parkinsonism
    Brain (IF 11.337) Pub Date : 2020-10-08
    Max Borsche; Inke R König; Sylvie Delcambre; Simona Petrucci; Alexander Balck; Norbert Brüggemann; Alexander Zimprich; Kobi Wasner; Sandro L Pereira; Micol Avenali; Christian Deuschle; Katja Badanjak; Jenny Ghelfi; Thomas Gasser; Meike Kasten; Philip Rosenstiel; Katja Lohmann; Kathrin Brockmann; Enza Maria Valente; Richard J Youle; Anne Grünewald; Christine Klein

    There is increasing evidence for a role of inflammation in Parkinson’s disease. Recent research in murine models suggests that parkin and PINK1 deficiency leads to impaired mitophagy, which causes the release of mitochondrial DNA (mtDNA), thereby triggering inflammation. Specifically, the CGAS (cyclic GMP-AMP synthase)-STING (stimulator of interferon genes) pathway mitigates activation of the innate

    更新日期:2020-10-26
  • Reply: Pentameric repeat expansions: cortical myoclonus or cortical tremor? and Cortical tremor: a tantalizing conundrum between cortex and cerebellum
    Brain (IF 11.337) Pub Date : 2020-10-04
    Anna Latorre; Lorenzo Rocchi; Francesca Magrinelli; Eoin Mulroy; Alfredo Berardelli; John C Rothwell; Kailash P Bhatia

    We are thankful for van Rootselaar et al’s and Striano et al’s interest in our work, and for sharing their considerations on the subject (Striano et al., 2020; van Rootselaar et al., 2020). The rare and poorly understood disorder that is familial cortical myoclonic tremor and epilepsy (FCMTE) captivates the curiosity of movement disorder and epilepsy specialists, because of its complex phenomenology

    更新日期:2020-10-26
  • Diabetes medications and risk of Parkinson’s disease: a cohort study of patients with diabetes
    Brain (IF 11.337) Pub Date : 2020-10-04
    Ruth Brauer; Li Wei; Tiantian Ma; Dilan Athauda; Christine Girges; Nirosen Vijiaratnam; Grace Auld; Cate Whittlesea; Ian Wong; Tom Foltynie

    The elevated risk of Parkinson’s disease in patients with diabetes might be mitigated depending on the type of drugs prescribed to treat diabetes. Population data for risk of Parkinson’s disease in users of the newer types of drugs used in diabetes are scarce. We compared the risk of Parkinson’s disease in patients with diabetes exposed to thiazolidinediones (glitazones), glucagon-like peptide-1 (GLP-1)

    更新日期:2020-10-26
  • Cortical tremor: a tantalizing conundrum between cortex and cerebellum
    Brain (IF 11.337) Pub Date : 2020-10-04
    Pasquale Striano; Antonietta Coppola; Raffaele Dubbioso; Carlo Minetti

    We read with interest the recent ‘Update’ (Latorre et al., 2020) providing a detailed analysis of the mechanisms defining cortical tremor, the leading symptom in familial cortical myoclonic tremor and epilepsy (FCMTE) or familial adult myoclonic epilepsy (FAME).

    更新日期:2020-10-26
  • Reply: Biallelic in-frame deletion in TRAPPC4 in a family with developmental delay and cerebellar atrophy
    Brain (IF 11.337) Pub Date : 2020-10-04
    Nicole J Van Bergen; Molly Ellery; John Christodoulou

    Recently, seven individuals from three unrelated families were found to be homozygous for the same recurrent variant in TRAPPC4 (NM_016146.6: c.454+3A>G) (Van Bergen et al., 2020), which was rapidly followed up less than 2 months later by another report of two siblings homozygous for the same variant (Kaur et al., 2020). All affected individuals had severe neurological symptoms including intellectual

    更新日期:2020-10-26
  • Pentameric repeat expansions: cortical myoclonus or cortical tremor?
    Brain (IF 11.337) Pub Date : 2020-10-04
    Anne-Fleur van Rootselaar; Arn M J M van den Maagdenberg; Christel Depienne; Marina A J Tijssen

    With great interest we read the paper by Latorre et al. (2020) titled ‘Unravelling the enigma of cortical tremor and other forms of cortical myoclonus’, which provides an update on autosomal dominant familial cortical myoclonic tremor and epilepsy [FCMTE/ADCME/familial adult myoclonic epilepsy (FAME)]. FCMTE is a rare syndrome that deserves the attention not only because of its specific clinical and

    更新日期:2020-10-26
  • Biallelic in-frame deletion in TRAPPC4 in a family with developmental delay and cerebellar atrophy
    Brain (IF 11.337) Pub Date : 2020-10-04
    Ahmed K Saad; Dana Marafi; Tadahiro Mitani; Angad Jolly; Haowei Du; Hasnaa M Elbendary; Shalini N Jhangiani; Zeynep C Akdemir; Baylor-Hopkins Center for Mendelian Genomics; Richard A Gibbs; Jill V Hunter; Claudia M B C Carvalho; Davut Pehlivan; Jennifer E Posey; Maha S Zaki; James R Lupski

    Van Bergen et al. (2020) described a single, potentially pathogenic, homozygous TRAPPC4 (MIM* 610971) splice site variant (NM_016146.6: c.454+3A>G) shared among seven subjects from three unrelated families of different ethnicities. The affected subjects presented with severe intellectual disability, developmental delay, epilepsy, spasticity, dystonia, microcephaly, and facial dysmorphism (neurodevelopmental

    更新日期:2020-10-26
  • Sex effects on brain structure in de novo Parkinson’s disease: a multimodal neuroimaging study
    Brain (IF 11.337) Pub Date : 2020-09-27
    Christina Tremblay; Nooshin Abbasi; Yashar Zeighami; Yvonne Yau; Mahsa Dadar; Shady Rahayel; Alain Dagher

    Parkinson’s disease varies in severity and age of onset. One source of this variability is sex. Males are twice as likely as females to develop Parkinson’s disease, and tend to have more severe symptoms and greater speed of progression. However, to date, there is little information in large cohorts on sex differences in the patterns of neurodegeneration. Here we used MRI and clinical information from

    更新日期:2020-10-26
  • Defining the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegia
    Brain (IF 11.337) Pub Date : 2020-09-26
    Darius Ebrahimi-Fakhari; Julian Teinert; Robert Behne; Miriam Wimmer; Angelica D'Amore; Kathrin Eberhardt; Barbara Brechmann; Marvin Ziegler; Dana M Jensen; Premsai Nagabhyrava; Gregory Geisel; Erin Carmody; Uzma Shamshad; Kira A. Dies; Christopher J Yuskaitis; Catherine L Salussolia; Daniel Ebrahimi-Fakhari; Toni S Pearson; Afshin Saffari; Andreas Ziegler; Stefan Kölker; Jens Volkmann; Antje Wiesener;

    Bi-allelic loss-of-function variants in genes that encode subunits of the adaptor protein complex 4 (AP-4) lead to prototypical yet poorly understood forms of childhood-onset and complex hereditary spastic paraplegia: SPG47 (AP4B1), SPG50 (AP4M1), SPG51 (AP4E1) and SPG52 (AP4S1). Here, we report a detailed cross-sectional analysis of clinical, imaging and molecular data of 156 patients from 101 families

    更新日期:2020-10-26
  • Predictive sensorimotor control in autism
    Brain (IF 11.337) Pub Date : 2020-09-25
    Tom Arthur; Sam Vine; Mark Brosnan; Gavin Buckingham

    Autism spectrum disorder has been characterized by atypicalities in how predictions and sensory information are processed in the brain. To shed light on this relationship in the context of sensorimotor control, we assessed prediction-related measures of cognition, perception, gaze and motor functioning in a large general population (n = 92; Experiment 1) and in clinically diagnosed autistic participants

    更新日期:2020-10-26
  • Functional gene networks reveal distinct mechanisms segregating in migraine families.
    Brain (IF 11.337) Pub Date : 2020-09-24
    Andreas H Rasmussen,Lisette J A Kogelman,David M Kristensen,Mona Ameri Chalmer,Jes Olesen,Thomas Folkmann Hansen

    Migraine is the most common neurological disorder worldwide and it has been shown to have complex polygenic origins with a heritability of estimated 40–70%. Both common and rare genetic variants are believed to underlie the pathophysiology of the prevalent types of migraine, migraine with typical aura and migraine without aura. However, only common variants have been identified so far. Here we identify

    更新日期:2020-10-26
  • Variant-specific changes in persistent or resurgent sodium current in SCN8A-related epilepsy patient-derived neurons.
    Brain (IF 11.337) Pub Date : 2020-09-24
    Andrew M Tidball,Luis F Lopez-Santiago,Yukun Yuan,Trevor W Glenn,Joshua L Margolis,J Clayton Walker,Emma G Kilbane,Christopher A Miller,E Martina Bebin,M Scott Perry,Lori L Isom,Jack M Parent

    Missense variants in the SCN8A voltage-gated sodium channel gene are linked to early-infantile epileptic encephalopathy type 13, also known as SCN8A-related epilepsy. These patients exhibit a wide spectrum of intractable seizure types, severe developmental delay, movement disorders, and elevated risk of sudden unexpected death in epilepsy. The mechanisms by which SCN8A variants lead to epilepsy are

    更新日期:2020-10-26
  • 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

    We read with great interest the article by Cortese and colleagues (2020) describing 100 carriers of the RFC1 expansion. This study explores the phenotypic spectrum of RFC1 expansions, identified as a cause of cerebellar ataxia, neuropathy, and vestibular areflexia syndrome (CANVAS) and late onset ataxia (Cortese et al., 2019; Rafehi et al., 2019). They concluded that RFC1 should be considered in all

    更新日期:2020-10-26
  • 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:2020-10-26
  • 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:2020-10-26
  • 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,Marco Salvetti,Giacomo

    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:2020-10-26
  • 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

    We recently reported in Brain that human induced pluripotent stem cell (iPSC)-derived astrocytes exhibit a distinct response to TDP-43 proteinopathy (both seeded aggregation and recombinant oligomers) compared to motor neurons. Furthermore, untreated control astrocytes were neuroprotective to motor neurons seeded with serially passaged post-mortem spinal cord tissue extracts derived from sporadic amyotrophic

    更新日期:2020-10-26
  • 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:2020-10-26
  • 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:2020-10-26
  • Brain-first versus body-first Parkinson's disease: a multimodal imaging case-control study.
    Brain (IF 11.337) Pub Date : 2020-08-24
    Jacob Horsager,Katrine B Andersen,Karoline Knudsen,Casper Skjærbæk,Tatyana D Fedorova,Niels Okkels,Eva Schaeffer,Sarah K Bonkat,Jacob Geday,Marit Otto,Michael Sommerauer,Erik H Danielsen,Einar Bech,Jonas Kraft,Ole L Munk,Sandra D Hansen,Nicola Pavese,Robert Göder,David J Brooks,Daniela Berg,Per Borghammer

    Parkinson’s disease is characterized by the presence of abnormal, intraneuronal α-synuclein aggregates, which may propagate from cell-to-cell in a prion-like manner. However, it remains uncertain where the initial α-synuclein aggregates originate. We have hypothesized that Parkinson’s disease comprises two subtypes. A brain-first (top-down) type, where α-synuclein pathology initially arises in the

    更新日期:2020-10-26
  • Histopathology-validated recommendations for cortical lesion imaging in multiple sclerosis.
    Brain (IF 11.337) Pub Date : 2020-08-21
    Piet M Bouman,Martijn D Steenwijk,Petra J W Pouwels,Menno M Schoonheim,Frederik Barkhof,Laura E Jonkman,Jeroen J G Geurts

    Cortical demyelinating lesions are clinically important in multiple sclerosis, but notoriously difficult to visualize with MRI. At clinical field strengths, double inversion recovery MRI is most sensitive, but still only detects 18% of all histopathologically validated cortical lesions. More recently, phase-sensitive inversion recovery was suggested to have a higher sensitivity than double inversion

    更新日期:2020-10-26
  • Corrigendum
    Brain (IF 11.337) Pub Date : 2020-09-30
    Kullmann D.

    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:2020-09-30
  • Acute and late neurological complications of COVID19: the quest for evidence
    Brain (IF 11.337) Pub Date : 2020-09-30
    Weixi Xiong; Patrick Kwan; Dong Zhou; Alessandra Del Felice; John S Duncan; Josemir W Sander

    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:2020-09-30
  • Corrigendum to: Definitions and classification of malformations of cortical development: practical guidelines.
    Brain (IF 11.337) Pub Date : 2020-09-24
    Kullmann D.

    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:2020-09-24
  • Corrigendum.
    Brain (IF 11.337) Pub Date : 2020-09-24
    Kullmann D.

    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:2020-09-24
  • 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 Hupperts,Murat Terzi,Jeannette

    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