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2022 Brain essay competition results
Masud Husain
doi : 10.1093/brain/awac457
Brain, Volume 146, Issue 1, January 2023, Page 1
Double vision
Stoyan Popkirov
doi : 10.1093/brain/awac409
Brain, Volume 146, Issue 1, January 2023, Pages 2–3
Running up that pill for amyotrophic lateral sclerosis
Julie Smeyers, Daniel A Mordes
doi : 10.1093/brain/awac408
Brain, Volume 146, Issue 1, January 2023, Pages 4–5
Beyond crystal balls: multimodal prediction of early recovery of consciousness
Jan Claassen
doi : 10.1093/brain/awac434
Brain, Volume 146, Issue 1, January 2023, Pages 6–7
Cerebral insulin receptors: a nexus for vascular and metabolic contributions to Alzheimer’s disease
Timothy M Hughes, Suzanne Craft
doi : 10.1093/brain/awac433
Brain, Volume 146, Issue 1, January 2023, Pa
Location, location, location: myelin repair and proximity to ventricular CSF in multiple sclerosis
Susan A Gauthier
doi : 10.1093/brain/awac448
Brain, Volume 146, Issue 1, January 2023, Pages 10–12
Maiden voyage: induced pluripotent stem cell-based drug screening for amyotrophic lateral sclerosis
Daisuke Ito, Satoru Morimoto, Shinichi Takahashi, Kensuke Okada, Jin Nakahara, Hideyuki Okano
doi : 10.1093/brain/awac306
Brain, Volume 146, Issue 1, January 2023, Pages 13–19
Using patient-derived induced pluripotent stem cells, neurodegenerative disease phenotypes have been recapitulated and their pathogenesis analysed leading to significant progress in drug screening.
Temporopolar regions of the human brain
M Marsel Mesulam
doi : 10.1093/brain/awac339
Brain, Volume 146, Issue 1, January 2023, Pages 20–41
Following prolonged neglect during the formative decades of behavioural neurology, the temporopolar region has become a site of vibrant research on the neurobiology of cognition and conduct.
Mitochondrial haplogroups and cognitive progression in Parkinson’s disease
Ganqiang Liu, Chunming Ni, Jiamin Zhan, Weimin Li, Junfeng Luo, Zhixiang Liao, Joseph J Locascio, Wenbiao Xian, Ling Chen, Zhong Pei, Jean-Christophe Corvol, Jodi Maple-Grødem, Meghan C Campbell, Alexis Elbaz, Suzanne Lesage, Alexis Brice, Albert Y Hung, Michael A Schwarzschild, Michael T Hayes, Anne-Marie Wills, Bernard Ravina, Ira Shoulson, Pille Taba, Sulev Kõks, Thomas G Beach, Florence Cormier-Dequaire, Guido Alves, Ole-Bjørn Tysnes, Joel S Perlmutter, Peter Heutink, Jacobus J van Hilten, Roger A Barker, Caroline H Williams-Gray, Clemens R Scherzer, International Genetics of Parkinson Disease Progression (IGPP) Consortium
doi : 10.1093/brain/awac327
Brain, Volume 146, Issue 1, January 2023, Pages 42–49
Mitochondria are a culprit in the onset of Parkinson’s disease, but their role during disease progression is unclear.
Multimodal prediction of residual consciousness in the intensive care unit: the CONNECT-ME study
Moshgan Amiri, Patrick M Fisher, Federico Raimondo, Annette Sidaros, Melita Cacic Hribljan, Marwan H Othman, Ivan Zibrandtsen, Simon S Albrechtsen, Ove Bergdal, Adam Espe Hansen, Christian Hassager, Joan Lilja S Højgaard, Elisabeth Waldemar Jakobsen, Helene Ravnholt Jensen, Jacob Møller, Vardan Nersesjan, Miki Nikolic, Markus Harboe Olsen, Sigurdur Thor Sigurdsson, Jacobo D Sitt, Christine Sølling, Karen Lise Welling, Lisette M Willumsen, John Hauerberg, Vibeke Andrée Larsen, Martin Fabricius, Gitte Moos Knudsen, Jesper Kjaergaard, Kirsten Møller, Daniel Kondziella
doi : 10.1093/brain/awac335
Brain, Volume 146, Issue 1, January 2023, Pages 50–64
Functional MRI (fMRI) and EEG may reveal residual consciousness in patients with disorders of consciousness (DoC), as reflected by a rapidly expanding literature on chronic DoC.
Genome-wide contribution of common short-tandem repeats to Parkinson’s disease genetic risk
Bernabe I Bustos, Kimberley Billingsley, Cornelis Blauwendraat, J Raphael Gibbs, Ziv Gan-Or, Dimitri Krainc, Andrew B Singleton, Steven J Lubbe, International Parkinson’s Disease Genomics Consortium (IPDGC)
doi : 10.1093/brain/awac301
Brain, Volume 146, Issue 1, January 2023, Pages 65–74
Parkinson’s disease is a complex neurodegenerative disorder with a strong genetic component, for which most known disease-associated variants are single nucleotide polymorphisms (SNPs) and small insertions and deletions (indels).
Cerebrovascular insulin receptors are defective in Alzheimer’s disease
Manon Leclerc, Philippe Bourassa, Cyntia Tremblay, Vicky Caron, Camille Sugère, Vincent Emond, David A Bennett, Frédéric Calon
doi : 10.1093/brain/awac309
Brain, Volume 146, Issue 1, January 2023, Pages 75–90
Central response to insulin is suspected to be defective in Alzheimer’s disease. As most insulin is secreted in the bloodstream by the pancreas, its capacity to regulate brain functions must, at least partly, be mediated through the cerebral vasculature. However, how insulin interacts with the blood–brain barrier and whether alterations of this interaction could contribute to Alzheimer’s disease pathophysiology both remain poorly defined.
Optimization of closed-loop electrical stimulation enables robust cerebellar-directed seizure control
Bethany J Stieve, Thomas J Richner, Chris Krook-Magnuson, Theoden I Netoff, Esther Krook-Magnuson
doi : 10.1093/brain/awac051
Brain, Volume 146, Issue 1, January 2023, Pages 91–108
Additional treatment options for temporal lobe epilepsy are needed, and potential interventions targeting the cerebellum are of interest
Distinct signatures of loss of consciousness in focal impaired awareness versus tonic-clonic seizures
Elsa Juan, Urszula Górska, Csaba Kozma, Cynthia Papantonatos, Tom Bugnon, Colin Denis, Vaclav Kremen, Greg Worrell, Aaron F Struck, Lisa M Bateman, Edward M Merricks, Hal Blumenfeld, Giulio Tononi, Catherine Schevon, Melanie Boly
doi : 10.1093/brain/awac291
Brain, Volume 146, Issue 1, January 2023, Pages 109–123
Loss of consciousness is a hallmark of many epileptic seizures and carries risks of serious injury and sudden death. While cortical sleep-like activities accompany loss of consciousness during focal impaired awareness seizures, the mechanisms of loss of consciousness during focal to bilateral tonic-clonic seizures remain unclear.
Cause-specific mortality and life years lost in people with epilepsy: a Danish cohort study
Julie Werenberg Dreier, Thomas Munk Laursen, Torbjörn Tomson, Oleguer Plana-Ripoll, Jakob Christensen
doi : 10.1093/brain/awac042
Brain, Volume 146, Issue 1, January 2023, Pages 124–134
Mortality rates are two to three times higher in people with epilepsy than in the general population. This study aimed to quantify how this increased mortality translates into reduced life expectancy and to identify the underlying causes of deaths, thereby offering suggestions for how to reduce mortality associated with epilepsy.
Orienting to fear under transient focal disruption of the human amygdala
Ashwani Jha, Beate Diehl, Bryan Strange, Anna Miserocchi, Fahmida Chowdhury, Andrew W McEvoy, Parashkev Nachev
doi : 10.1093/brain/awac032
Brain, Volume 146, Issue 1, January 2023, Pages 135–148
Responding to threat is under strong survival pressure, promoting the evolution of systems highly optimized for the task. Though the amygdala is implicated in ‘detecting’ threat, its role in the action that immediately follows—‘orienting’—remains unclear.
Reactive astrocytes promote proteostasis in Huntington’s disease through the JAK2-STAT3 pathway
Laurene Abjean, Lucile Ben Haim, Miriam Riquelme-Perez, Pauline Gipchtein, Céline Derbois, Marie-Ange Palomares, Fanny Petit, Anne-Sophie Hérard, Marie-Claude Gaillard, Martine Guillermier, Mylène Gaudin-Guérif, Gwennaëlle Aurégan, Nisrine Sagar, Cameron Héry, Noëlle Dufour, Noémie Robil, Mehdi Kabani, Ronald Melki, Pierre De la Grange, Alexis P Bemelmans, Gilles Bonvento, Jean-François Deleuze, Philippe Hantraye, Julien Flament, Eric Bonnet, Solène Brohard, Robert Olaso, Emmanuel Brouillet, Maria-Angeles Carrillo-de Sauvage, Carole Escartin
doi : 10.1093/brain/awac068
Brain, Volume 146, Issue 1, January 2023, Pages 149–166
Huntington’s disease is a fatal neurodegenerative disease characterized by striatal neurodegeneration, aggregation of mutant Huntingtin and the presence of reactive astrocytes.
Graph lesion-deficit mapping of fluid intelligence
Lisa Cipolotti, James K Ruffle, Joe Mole, Tianbo Xu, Harpreet Hyare, Tim Shallice, Edgar Chan, Parashkev Nachev
doi : 10.1093/brain/awac304
Brain, Volume 146, Issue 1, January 2023, Pages 167–181
Fluid intelligence is arguably the defining feature of human cognition. Yet the nature of its relationship with the brain remains a contentious topic.
Periventricular remyelination failure in multiple sclerosis: a substrate for neurodegeneration
Matteo Tonietto, Emilie Poirion, Andrea Lazzarotto, Vito Ricigliano, Caroline Papeix, Michel Bottlaender, Benedetta Bodini, Bruno Stankoff
doi : 10.1093/brain/awac334
Brain, Volume 146, Issue 1, January 2023, Pages 182–194
In multiple sclerosis, spontaneous remyelination is generally incomplete and heterogeneous across patients. A high heterogeneity in remyelination may also exist across lesions within the same individual, suggesting the presence of local factors interfering with myelin regeneration.
Extracellular vesicle biomarkers for cognitive impairment in Parkinson’s disease
Joseph Blommer, Toni Pitcher, Maja Mustapic, Erden Eren, Pamela J Yao, Michael P Vreones, Krishna A Pucha, John Dalrymple-Alford, Reza Shoorangiz, Wassilios G Meissner, Tim Anderson, Dimitrios Kapogiannis
doi : 10.1093/brain/awac258
Brain, Volume 146, Issue 1, January 2023, Pages 195–208
Besides motor symptoms, many individuals with Parkinson’s disease develop cognitive impairment perhaps due to coexisting α-synuclein and Alzheimer’s disease pathologies and impaired brain insulin signalling.
CSF-derived extracellular vesicles from patients with Parkinson’s disease induce symptoms and pathology
Shay Herman, Ruth Djaldetti, Brit Mollenhauer, Daniel Offen
doi : 10.1093/brain/awac261
Brain, Volume 146, Issue 1, January 2023, Pages 209–224
Parkinson’s disease is characterized by the gradual appearance of intraneuronal inclusions that are primarily composed of misfolded α-synuclein protein, leading to cytotoxicity and neural death.
Peripheral neuropathy in Parkinson’s disease: prevalence and functional impact on gait and balance
Marta Francisca Corrà , Nuno Vila-Chã, Ana Sardoeira, Clint Hansen, Ana Paula Sousa, Inês Reis, Firmina Sambayeta, Joana Damásio, Margarida Calejo, Andreas Schicketmueller, Inês Laranjinha, Paula Salgado, Ricardo Taipa, Rui Magalhães, Manuel Correia, Walter Maetzler, LuÃs F Maia
doi : 10.1093/brain/awac026
Brain, Volume 146, Issue 1, January 2023, Pages 225–236
Peripheral neuropathy is a common problem in patients with Parkinson’s disease. Peripheral neuropathy’s prevalence in Parkinson’s disease varies between 4.8–55%, compared with 9% in the general population.
Host oligodendrogliopathy and α-synuclein strains dictate disease severity in multiple system atrophy
Teresa Torre-Muruzabal, Anke Van der Perren, Audrey Coens, Géraldine Gelders, Anna Barber Janer, Sara Camacho-Garcia, Therése Klingstedt, Peter Nilsson, Nadia Stefanova, Ronald Melki, Veerle Baekelandt, Wouter Peelaerts
doi : 10.1093/brain/awac061
Brain, Volume 146, Issue 1, January 2023, Pages 237–251
Multiple system atrophy is a progressive neurodegenerative disease with prominent autonomic and motor features. During early stages, different subtypes of the disease are distinguished by their predominant parkinsonian or cerebellar symptoms, reflecting its heterogeneous nature.
Startle responses in Duchenne muscular dystrophy: a novel biomarker of brain dystrophin deficiency
Kate Maresh, Andriani Papageorgiou, Deborah Ridout, Neil A Harrison, William Mandy, David Skuse, Francesco Muntoni
doi : 10.1093/brain/awac048
Brain, Volume 146, Issue 1, January 2023, Pages 252–265
Duchenne muscular dystrophy (DMD) is characterized by loss of dystrophin in muscle, however patients also have variable degree of intellectual disability and neurobehavioural co-morbidities.
Different saccadic profile in bulbar versus spinal-onset amyotrophic lateral sclerosis
Domenica Zaino, Valeria Serchi, Fabio Giannini, Barbara Pucci, Giacomo Veneri, Elena Pretegiani, Francesca Rosini, Lucia Monti, Alessandra Rufa
doi : 10.1093/brain/awac050
Brain, Volume 146, Issue 1, January 2023, Pages 266–277
Two clinical phenotypes characterize the onset of amyotrophic lateral sclerosis (ALS): the spinal variant, with symptoms beginning in the limbs, and the bulbar variant, affecting firstly speech and swallowing.
Ligand-free mitochondria-localized mutant AR-induced cytotoxicity in spinal bulbar muscular atrophy
Xia Feng, Xiu-Tang Cheng, Pengli Zheng, Yan Li, Jill Hakim, Shirley Q Zhang, Stacie M Anderson, Kaari Linask, Ryan Prestil, Jizhong Zou, Zu-Hang Sheng, Craig Blackstone
doi : 10.1093/brain/awac269
Brain, Volume 146, Issue 1, January 2023, Pages 278–294
Spinal bulbar muscular atrophy (SBMA), the first identified CAG-repeat expansion disorder, is an X-linked neuromuscular disorder involving CAG-repeat-expansion mutations in the androgen receptor (AR) gene.
Anterior dorsal attention network tau drives visual attention deficits in posterior cortical atrophy
Yuta Katsumi, Deepti Putcha, Ryan Eckbo, Bonnie Wong, Megan Quimby, Scott McGinnis, Alexandra Touroutoglou, Bradford C Dickerson
doi : 10.1093/brain/awac245
Brain, Volume 146, Issue 1, January 2023, Pages 295–306
Posterior cortical atrophy (PCA), usually an atypical clinical syndrome of Alzheimer’s disease, has well-characterized patterns of cortical atrophy and tau deposition that are distinct from typical amnestic presentations of Alzheimer’s disease.
Psychiatric symptoms of frontotemporal dementia and subcortical (co-)pathology burden: new insights
Marta Scarioni, Priya Gami-Patel, Carel F W Peeters, Florianne de Koning, Harro Seelaar, Merel O Mol, John C van Swieten, Netherlands Brain Bank, Annemieke J M Rozemuller, Jeroen J M Hoozemans, Yolande A L Pijnenburg, Anke A Dijkstra
doi : 10.1093/brain/awac043
Brain, Volume 146, Issue 1, January 2023, Pages 307–320
Three subtypes of distinct pathological proteins accumulate throughout multiple brain regions and shape the heterogeneous clinical presentation of frontotemporal lobar degeneration (FTLD). Besides the main pathological subtypes, co-occurring pathologies are common in FTLD brain donors.
Network structure and transcriptomic vulnerability shape atrophy in frontotemporal dementia
Golia Shafiei, Vincent Bazinet, Mahsa Dadar, Ana L Manera, D Louis Collins, Alain Dagher, Barbara Borroni, Raquel Sanchez-Valle, Fermin Moreno, Robert Laforce, Jr, Caroline Graff, Matthis Synofzik, Daniela Galimberti, James B Rowe, Mario Masellis, Maria Carmela Tartaglia, Elizabeth Finger, Rik Vandenberghe, Alexandre de Mendonça, Fabrizio Tagliavini, Isabel Santana, Chris Butler, Alex Gerhard, Adrian Danek, Johannes Levin, Markus Otto, Sandro Sorbi, Lize C Jiskoot, Harro Seelaar, John C van Swieten, Jonathan D Rohrer, Bratislav Misic, Simon Ducharme, Frontotemporal Lobar Degeneration Neuroimaging Initiative (FTLDNI) , GENetic Frontotemporal dementia Initiative (GENFI)
doi : 10.1093/brain/awac069
Brain, Volume 146, Issue 1, January 2023, Pages 321–336
Connections among brain regions allow pathological perturbations to spread from a single source region to multiple regions. Patterns of neurodegeneration in multiple diseases, including behavioural variant of frontotemporal dementia (bvFTD), resemble the large-scale functional systems, but how bvFTD-related atrophy patterns relate to structural network organization remains unknown.
Diabetes and hypertension are related to amyloid-beta burden in the population-based Rotterdam Study
Joyce van Arendonk, Julia Neitzel, Rebecca M E Steketee, Daniëlle M E van Assema, Henri A Vrooman, Marcel Segbers, M Arfan Ikram, Meike W Vernooij
doi : 10.1093/brain/awac354
Brain, Volume 146, Issue 1, January 2023, Pages 337–348
Higher vascular disease burden increases the likelihood of developing dementia, including Alzheimer’s disease. Better understanding the association between vascular risk factors and Alzheimer’s disease pathology at the predementia stage is critical for developing effective strategies to delay cognitive decline.
Progressive multifocal leukoencephalopathy: epidemiology and spectrum of predisposing conditions
Marine Joly, Cécile Conte, Charles Cazanave, Vincent Le Moing, Pierre Tattevin, Pierre Delobel, Agnès Sommet, Guillaume Martin-Blondel
doi : 10.1093/brain/awac237
Brain, Volume 146, Issue 1, January 2023, Pages 349–358
Population-based data on the epidemiology of progressive multifocal leukoencephalopathy, its predisposing conditions and mortality rate are lacking, although such data are crucial to raise awareness among clinicians and to lay foundations for future therapeutic trials in immunomodulating therapies.
Stem cell-derived sensory neurons modelling inherited erythromelalgia: normalization of excitability
Matthew Alsaloum, Julie I R Labau, Shujun Liu, Philip R Effraim, Stephen G Waxman
doi : 10.1093/brain/awac031
Brain, Volume 146, Issue 1, January 2023, Pages 359–371
Effective treatment of pain remains an unmet healthcare need that requires new and effective therapeutic approaches. NaV1.7 has been genetically and functionally validated as a mediator of pain.
Frontostriatothalamic effective connectivity and dopaminergic function in the psychosis continuum
Kristina Sabaroedin, Adeel Razi, Sidhant Chopra, Nancy Tran, Andrii Pozaruk, Zhaolin Chen, Amy Finlay, Barnaby Nelson, Kelly Allott, Mario Alvarez-Jimenez, Jessica Graham, Hok P Yuen, Susy Harrigan, Vanessa Cropley, Sujit Sharma, Bharat Saluja, Rob Williams, Christos Pantelis, Stephen J Wood, Brian O’Donoghue, Shona Francey, Patrick McGorry, Kevin Aquino, Alex Fornito
doi : 10.1093/brain/awac018
Brain, Volume 146, Issue 1, January 2023, Pages 372–386
Dysfunction of fronto-striato-thalamic (FST) circuits is thought to contribute to dopaminergic dysfunction and symptom onset in psychosis, but it remains unclear whether this dysfunction is driven by aberrant bottom-up subcortical signalling or impaired top-down cortical regulation.
Cerebral organoids containing an AUTS2 missense variant model microcephaly
Summer R Fair, Wesley Schwind, Dominic L Julian, Alecia Biel, Gongbo Guo, Ryan Rutherford, Swetha Ramadesikan, Jesse Westfall, Katherine E Miller, Meisam Naeimi Kararoudi, Scott E Hickey, Theresa Mihalic Mosher, Kim L McBride, Reid Neinast, James Fitch, Dean A Lee, Peter White, Richard K Wilson, Tracy A Bedrosian, Daniel C Koboldt, Mark E Hester
doi : 10.1093/brain/awac244
Brain, Volume 146, Issue 1, January 2023, Pages 387–404
Variants in the AUTS2 gene are associated with a broad spectrum of neurological conditions characterized by intellectual disability, microcephaly, and congenital brain malformations.
The unintended preservation of the cultural divide
G D Schott, MD, FRCP
doi : 10.1093/brain/awac400
Brain, Volume 146, Issue 1, January 2023, Pages 405–406
Biallelic ZBTB11 variants associated with complex neuropsychiatric phenotype featuring Tourette syndrome
Marcello Scala, Elisa De Grandis, Giulia Nobile, Michele Iacomino, Francesca Madia, Valeria Capra, Lino Nobili, Federico Zara, Pasquale Striano
doi : 10.1093/brain/awac323
Brain, Volume 146, Issue 1, January 2023, Pages e1–e4
Correction to: Normative intracranial EEG maps epileptogenic tissues in focal epilepsy
doi : 10.1093/brain/awac337
Brain, Volume 146, Issue 1, January 2023, Page e5
Correction to: Detection of neuron-derived pathological α-synuclein in blood
doi : 10.1093/brain/awac370
Brain, Volume 146, Issue 1, January 2023, Page e6
Correction to: Profiling PI3K-AKT-MTOR variants in focal brain malformations reveals new insights for diagnostic care
doi : 10.1093/brain/awac369
Brain, Volume 146, Issue 1, January 2023, Pages e7–e8
Correction to: New genotype-phenotype correlations in a large European cohort of patients with sarcoglycanopathy
doi : 10.1093/brain/awac371
Brain, Volume 146, Issue 1, January 2023, Page e9,
Correction to: CSF-derived extracellular vesicles from patients with Parkinson’s disease induce symptoms and pathology
doi : 10.1093/brain/awac468
Brain, Volume 146, Issue 1, January 2023, Page e10
2022 Brain essay competition results
Masud Husain
doi : 10.1093/brain/awac457
Brain, Volume 146, Issue 1, January 2023, Page 1
Double vision
Stoyan Popkirov
doi : 10.1093/brain/awac409
Brain, Volume 146, Issue 1, January 2023, Pages 2–3
Running up that pill for amyotrophic lateral sclerosis
Julie Smeyers, Daniel A Mordes
doi : 10.1093/brain/awac408
Brain, Volume 146, Issue 1, January 2023, Pages 4–5
Beyond crystal balls: multimodal prediction of early recovery of consciousness
Jan Claassen
doi : 10.1093/brain/awac434
Brain, Volume 146, Issue 1, January 2023, Pages 6–7
Cerebral insulin receptors: a nexus for vascular and metabolic contributions to Alzheimer’s disease
Timothy M Hughes, Suzanne Craft
doi : 10.1093/brain/awac433
Brain, Volume 146, Issue 1, January 2023, Pa
Location, location, location: myelin repair and proximity to ventricular CSF in multiple sclerosis
Susan A Gauthier
doi : 10.1093/brain/awac448
Brain, Volume 146, Issue 1, January 2023, Pages 10–12
Maiden voyage: induced pluripotent stem cell-based drug screening for amyotrophic lateral sclerosis
Daisuke Ito, Satoru Morimoto, Shinichi Takahashi, Kensuke Okada, Jin Nakahara, Hideyuki Okano
doi : 10.1093/brain/awac306
Brain, Volume 146, Issue 1, January 2023, Pages 13–19
Using patient-derived induced pluripotent stem cells, neurodegenerative disease phenotypes have been recapitulated and their pathogenesis analysed leading to significant progress in drug screening.
Temporopolar regions of the human brain
M Marsel Mesulam
doi : 10.1093/brain/awac339
Brain, Volume 146, Issue 1, January 2023, Pages 20–41
Following prolonged neglect during the formative decades of behavioural neurology, the temporopolar region has become a site of vibrant research on the neurobiology of cognition and conduct.
Mitochondrial haplogroups and cognitive progression in Parkinson’s disease
Ganqiang Liu, Chunming Ni, Jiamin Zhan, Weimin Li, Junfeng Luo, Zhixiang Liao, Joseph J Locascio, Wenbiao Xian, Ling Chen, Zhong Pei, Jean-Christophe Corvol, Jodi Maple-Grødem, Meghan C Campbell, Alexis Elbaz, Suzanne Lesage, Alexis Brice, Albert Y Hung, Michael A Schwarzschild, Michael T Hayes, Anne-Marie Wills, Bernard Ravina, Ira Shoulson, Pille Taba, Sulev Kõks, Thomas G Beach, Florence Cormier-Dequaire, Guido Alves, Ole-Bjørn Tysnes, Joel S Perlmutter, Peter Heutink, Jacobus J van Hilten, Roger A Barker, Caroline H Williams-Gray, Clemens R Scherzer, International Genetics of Parkinson Disease Progression (IGPP) Consortium
doi : 10.1093/brain/awac327
Brain, Volume 146, Issue 1, January 2023, Pages 42–49
Mitochondria are a culprit in the onset of Parkinson’s disease, but their role during disease progression is unclear.
Multimodal prediction of residual consciousness in the intensive care unit: the CONNECT-ME study
Moshgan Amiri, Patrick M Fisher, Federico Raimondo, Annette Sidaros, Melita Cacic Hribljan, Marwan H Othman, Ivan Zibrandtsen, Simon S Albrechtsen, Ove Bergdal, Adam Espe Hansen, Christian Hassager, Joan Lilja S Højgaard, Elisabeth Waldemar Jakobsen, Helene Ravnholt Jensen, Jacob Møller, Vardan Nersesjan, Miki Nikolic, Markus Harboe Olsen, Sigurdur Thor Sigurdsson, Jacobo D Sitt, Christine Sølling, Karen Lise Welling, Lisette M Willumsen, John Hauerberg, Vibeke Andrée Larsen, Martin Fabricius, Gitte Moos Knudsen, Jesper Kjaergaard, Kirsten Møller, Daniel Kondziella
doi : 10.1093/brain/awac335
Brain, Volume 146, Issue 1, January 2023, Pages 50–64
Functional MRI (fMRI) and EEG may reveal residual consciousness in patients with disorders of consciousness (DoC), as reflected by a rapidly expanding literature on chronic DoC.
Genome-wide contribution of common short-tandem repeats to Parkinson’s disease genetic risk
Bernabe I Bustos, Kimberley Billingsley, Cornelis Blauwendraat, J Raphael Gibbs, Ziv Gan-Or, Dimitri Krainc, Andrew B Singleton, Steven J Lubbe, International Parkinson’s Disease Genomics Consortium (IPDGC)
doi : 10.1093/brain/awac301
Brain, Volume 146, Issue 1, January 2023, Pages 65–74
Parkinson’s disease is a complex neurodegenerative disorder with a strong genetic component, for which most known disease-associated variants are single nucleotide polymorphisms (SNPs) and small insertions and deletions (indels).
Cerebrovascular insulin receptors are defective in Alzheimer’s disease
Manon Leclerc, Philippe Bourassa, Cyntia Tremblay, Vicky Caron, Camille Sugère, Vincent Emond, David A Bennett, Frédéric Calon
doi : 10.1093/brain/awac309
Brain, Volume 146, Issue 1, January 2023, Pages 75–90
Central response to insulin is suspected to be defective in Alzheimer’s disease. As most insulin is secreted in the bloodstream by the pancreas, its capacity to regulate brain functions must, at least partly, be mediated through the cerebral vasculature. However, how insulin interacts with the blood–brain barrier and whether alterations of this interaction could contribute to Alzheimer’s disease pathophysiology both remain poorly defined.
Optimization of closed-loop electrical stimulation enables robust cerebellar-directed seizure control
Bethany J Stieve, Thomas J Richner, Chris Krook-Magnuson, Theoden I Netoff, Esther Krook-Magnuson
doi : 10.1093/brain/awac051
Brain, Volume 146, Issue 1, January 2023, Pages 91–108
Additional treatment options for temporal lobe epilepsy are needed, and potential interventions targeting the cerebellum are of interest
Distinct signatures of loss of consciousness in focal impaired awareness versus tonic-clonic seizures
Elsa Juan, Urszula Górska, Csaba Kozma, Cynthia Papantonatos, Tom Bugnon, Colin Denis, Vaclav Kremen, Greg Worrell, Aaron F Struck, Lisa M Bateman, Edward M Merricks, Hal Blumenfeld, Giulio Tononi, Catherine Schevon, Melanie Boly
doi : 10.1093/brain/awac291
Brain, Volume 146, Issue 1, January 2023, Pages 109–123
Loss of consciousness is a hallmark of many epileptic seizures and carries risks of serious injury and sudden death. While cortical sleep-like activities accompany loss of consciousness during focal impaired awareness seizures, the mechanisms of loss of consciousness during focal to bilateral tonic-clonic seizures remain unclear.
Cause-specific mortality and life years lost in people with epilepsy: a Danish cohort study
Julie Werenberg Dreier, Thomas Munk Laursen, Torbjörn Tomson, Oleguer Plana-Ripoll, Jakob Christensen
doi : 10.1093/brain/awac042
Brain, Volume 146, Issue 1, January 2023, Pages 124–134
Mortality rates are two to three times higher in people with epilepsy than in the general population. This study aimed to quantify how this increased mortality translates into reduced life expectancy and to identify the underlying causes of deaths, thereby offering suggestions for how to reduce mortality associated with epilepsy.
Orienting to fear under transient focal disruption of the human amygdala
Ashwani Jha, Beate Diehl, Bryan Strange, Anna Miserocchi, Fahmida Chowdhury, Andrew W McEvoy, Parashkev Nachev
doi : 10.1093/brain/awac032
Brain, Volume 146, Issue 1, January 2023, Pages 135–148
Responding to threat is under strong survival pressure, promoting the evolution of systems highly optimized for the task. Though the amygdala is implicated in ‘detecting’ threat, its role in the action that immediately follows—‘orienting’—remains unclear.
Reactive astrocytes promote proteostasis in Huntington’s disease through the JAK2-STAT3 pathway
Laurene Abjean, Lucile Ben Haim, Miriam Riquelme-Perez, Pauline Gipchtein, Céline Derbois, Marie-Ange Palomares, Fanny Petit, Anne-Sophie Hérard, Marie-Claude Gaillard, Martine Guillermier, Mylène Gaudin-Guérif, Gwennaëlle Aurégan, Nisrine Sagar, Cameron Héry, Noëlle Dufour, Noémie Robil, Mehdi Kabani, Ronald Melki, Pierre De la Grange, Alexis P Bemelmans, Gilles Bonvento, Jean-François Deleuze, Philippe Hantraye, Julien Flament, Eric Bonnet, Solène Brohard, Robert Olaso, Emmanuel Brouillet, Maria-Angeles Carrillo-de Sauvage, Carole Escartin
doi : 10.1093/brain/awac068
Brain, Volume 146, Issue 1, January 2023, Pages 149–166
Huntington’s disease is a fatal neurodegenerative disease characterized by striatal neurodegeneration, aggregation of mutant Huntingtin and the presence of reactive astrocytes.
Graph lesion-deficit mapping of fluid intelligence
Lisa Cipolotti, James K Ruffle, Joe Mole, Tianbo Xu, Harpreet Hyare, Tim Shallice, Edgar Chan, Parashkev Nachev
doi : 10.1093/brain/awac304
Brain, Volume 146, Issue 1, January 2023, Pages 167–181
Fluid intelligence is arguably the defining feature of human cognition. Yet the nature of its relationship with the brain remains a contentious topic.
Periventricular remyelination failure in multiple sclerosis: a substrate for neurodegeneration
Matteo Tonietto, Emilie Poirion, Andrea Lazzarotto, Vito Ricigliano, Caroline Papeix, Michel Bottlaender, Benedetta Bodini, Bruno Stankoff
doi : 10.1093/brain/awac334
Brain, Volume 146, Issue 1, January 2023, Pages 182–194
In multiple sclerosis, spontaneous remyelination is generally incomplete and heterogeneous across patients. A high heterogeneity in remyelination may also exist across lesions within the same individual, suggesting the presence of local factors interfering with myelin regeneration.
Extracellular vesicle biomarkers for cognitive impairment in Parkinson’s disease
Joseph Blommer, Toni Pitcher, Maja Mustapic, Erden Eren, Pamela J Yao, Michael P Vreones, Krishna A Pucha, John Dalrymple-Alford, Reza Shoorangiz, Wassilios G Meissner, Tim Anderson, Dimitrios Kapogiannis
doi : 10.1093/brain/awac258
Brain, Volume 146, Issue 1, January 2023, Pages 195–208
Besides motor symptoms, many individuals with Parkinson’s disease develop cognitive impairment perhaps due to coexisting α-synuclein and Alzheimer’s disease pathologies and impaired brain insulin signalling.
CSF-derived extracellular vesicles from patients with Parkinson’s disease induce symptoms and pathology
Shay Herman, Ruth Djaldetti, Brit Mollenhauer, Daniel Offen
doi : 10.1093/brain/awac261
Brain, Volume 146, Issue 1, January 2023, Pages 209–224
Parkinson’s disease is characterized by the gradual appearance of intraneuronal inclusions that are primarily composed of misfolded α-synuclein protein, leading to cytotoxicity and neural death.
Peripheral neuropathy in Parkinson’s disease: prevalence and functional impact on gait and balance
Marta Francisca Corrà , Nuno Vila-Chã, Ana Sardoeira, Clint Hansen, Ana Paula Sousa, Inês Reis, Firmina Sambayeta, Joana Damásio, Margarida Calejo, Andreas Schicketmueller, Inês Laranjinha, Paula Salgado, Ricardo Taipa, Rui Magalhães, Manuel Correia, Walter Maetzler, LuÃs F Maia
doi : 10.1093/brain/awac026
Brain, Volume 146, Issue 1, January 2023, Pages 225–236
Peripheral neuropathy is a common problem in patients with Parkinson’s disease. Peripheral neuropathy’s prevalence in Parkinson’s disease varies between 4.8–55%, compared with 9% in the general population.
Host oligodendrogliopathy and α-synuclein strains dictate disease severity in multiple system atrophy
Teresa Torre-Muruzabal, Anke Van der Perren, Audrey Coens, Géraldine Gelders, Anna Barber Janer, Sara Camacho-Garcia, Therése Klingstedt, Peter Nilsson, Nadia Stefanova, Ronald Melki, Veerle Baekelandt, Wouter Peelaerts
doi : 10.1093/brain/awac061
Brain, Volume 146, Issue 1, January 2023, Pages 237–251
Multiple system atrophy is a progressive neurodegenerative disease with prominent autonomic and motor features. During early stages, different subtypes of the disease are distinguished by their predominant parkinsonian or cerebellar symptoms, reflecting its heterogeneous nature.
Startle responses in Duchenne muscular dystrophy: a novel biomarker of brain dystrophin deficiency
Kate Maresh, Andriani Papageorgiou, Deborah Ridout, Neil A Harrison, William Mandy, David Skuse, Francesco Muntoni
doi : 10.1093/brain/awac048
Brain, Volume 146, Issue 1, January 2023, Pages 252–265
Duchenne muscular dystrophy (DMD) is characterized by loss of dystrophin in muscle, however patients also have variable degree of intellectual disability and neurobehavioural co-morbidities.
Different saccadic profile in bulbar versus spinal-onset amyotrophic lateral sclerosis
Domenica Zaino, Valeria Serchi, Fabio Giannini, Barbara Pucci, Giacomo Veneri, Elena Pretegiani, Francesca Rosini, Lucia Monti, Alessandra Rufa
doi : 10.1093/brain/awac050
Brain, Volume 146, Issue 1, January 2023, Pages 266–277
Two clinical phenotypes characterize the onset of amyotrophic lateral sclerosis (ALS): the spinal variant, with symptoms beginning in the limbs, and the bulbar variant, affecting firstly speech and swallowing.
Ligand-free mitochondria-localized mutant AR-induced cytotoxicity in spinal bulbar muscular atrophy
Xia Feng, Xiu-Tang Cheng, Pengli Zheng, Yan Li, Jill Hakim, Shirley Q Zhang, Stacie M Anderson, Kaari Linask, Ryan Prestil, Jizhong Zou, Zu-Hang Sheng, Craig Blackstone
doi : 10.1093/brain/awac269
Brain, Volume 146, Issue 1, January 2023, Pages 278–294
Spinal bulbar muscular atrophy (SBMA), the first identified CAG-repeat expansion disorder, is an X-linked neuromuscular disorder involving CAG-repeat-expansion mutations in the androgen receptor (AR) gene.
Anterior dorsal attention network tau drives visual attention deficits in posterior cortical atrophy
Yuta Katsumi, Deepti Putcha, Ryan Eckbo, Bonnie Wong, Megan Quimby, Scott McGinnis, Alexandra Touroutoglou, Bradford C Dickerson
doi : 10.1093/brain/awac245
Brain, Volume 146, Issue 1, January 2023, Pages 295–306
Posterior cortical atrophy (PCA), usually an atypical clinical syndrome of Alzheimer’s disease, has well-characterized patterns of cortical atrophy and tau deposition that are distinct from typical amnestic presentations of Alzheimer’s disease.
Psychiatric symptoms of frontotemporal dementia and subcortical (co-)pathology burden: new insights
Marta Scarioni, Priya Gami-Patel, Carel F W Peeters, Florianne de Koning, Harro Seelaar, Merel O Mol, John C van Swieten, Netherlands Brain Bank, Annemieke J M Rozemuller, Jeroen J M Hoozemans, Yolande A L Pijnenburg, Anke A Dijkstra
doi : 10.1093/brain/awac043
Brain, Volume 146, Issue 1, January 2023, Pages 307–320
Three subtypes of distinct pathological proteins accumulate throughout multiple brain regions and shape the heterogeneous clinical presentation of frontotemporal lobar degeneration (FTLD). Besides the main pathological subtypes, co-occurring pathologies are common in FTLD brain donors.
Network structure and transcriptomic vulnerability shape atrophy in frontotemporal dementia
Golia Shafiei, Vincent Bazinet, Mahsa Dadar, Ana L Manera, D Louis Collins, Alain Dagher, Barbara Borroni, Raquel Sanchez-Valle, Fermin Moreno, Robert Laforce, Jr, Caroline Graff, Matthis Synofzik, Daniela Galimberti, James B Rowe, Mario Masellis, Maria Carmela Tartaglia, Elizabeth Finger, Rik Vandenberghe, Alexandre de Mendonça, Fabrizio Tagliavini, Isabel Santana, Chris Butler, Alex Gerhard, Adrian Danek, Johannes Levin, Markus Otto, Sandro Sorbi, Lize C Jiskoot, Harro Seelaar, John C van Swieten, Jonathan D Rohrer, Bratislav Misic, Simon Ducharme, Frontotemporal Lobar Degeneration Neuroimaging Initiative (FTLDNI) , GENetic Frontotemporal dementia Initiative (GENFI)
doi : 10.1093/brain/awac069
Brain, Volume 146, Issue 1, January 2023, Pages 321–336
Connections among brain regions allow pathological perturbations to spread from a single source region to multiple regions. Patterns of neurodegeneration in multiple diseases, including behavioural variant of frontotemporal dementia (bvFTD), resemble the large-scale functional systems, but how bvFTD-related atrophy patterns relate to structural network organization remains unknown.
Diabetes and hypertension are related to amyloid-beta burden in the population-based Rotterdam Study
Joyce van Arendonk, Julia Neitzel, Rebecca M E Steketee, Daniëlle M E van Assema, Henri A Vrooman, Marcel Segbers, M Arfan Ikram, Meike W Vernooij
doi : 10.1093/brain/awac354
Brain, Volume 146, Issue 1, January 2023, Pages 337–348
Higher vascular disease burden increases the likelihood of developing dementia, including Alzheimer’s disease. Better understanding the association between vascular risk factors and Alzheimer’s disease pathology at the predementia stage is critical for developing effective strategies to delay cognitive decline.
Progressive multifocal leukoencephalopathy: epidemiology and spectrum of predisposing conditions
Marine Joly, Cécile Conte, Charles Cazanave, Vincent Le Moing, Pierre Tattevin, Pierre Delobel, Agnès Sommet, Guillaume Martin-Blondel
doi : 10.1093/brain/awac237
Brain, Volume 146, Issue 1, January 2023, Pages 349–358
Population-based data on the epidemiology of progressive multifocal leukoencephalopathy, its predisposing conditions and mortality rate are lacking, although such data are crucial to raise awareness among clinicians and to lay foundations for future therapeutic trials in immunomodulating therapies.
Stem cell-derived sensory neurons modelling inherited erythromelalgia: normalization of excitability
Matthew Alsaloum, Julie I R Labau, Shujun Liu, Philip R Effraim, Stephen G Waxman
doi : 10.1093/brain/awac031
Brain, Volume 146, Issue 1, January 2023, Pages 359–371
Effective treatment of pain remains an unmet healthcare need that requires new and effective therapeutic approaches. NaV1.7 has been genetically and functionally validated as a mediator of pain.
Frontostriatothalamic effective connectivity and dopaminergic function in the psychosis continuum
Kristina Sabaroedin, Adeel Razi, Sidhant Chopra, Nancy Tran, Andrii Pozaruk, Zhaolin Chen, Amy Finlay, Barnaby Nelson, Kelly Allott, Mario Alvarez-Jimenez, Jessica Graham, Hok P Yuen, Susy Harrigan, Vanessa Cropley, Sujit Sharma, Bharat Saluja, Rob Williams, Christos Pantelis, Stephen J Wood, Brian O’Donoghue, Shona Francey, Patrick McGorry, Kevin Aquino, Alex Fornito
doi : 10.1093/brain/awac018
Brain, Volume 146, Issue 1, January 2023, Pages 372–386
Dysfunction of fronto-striato-thalamic (FST) circuits is thought to contribute to dopaminergic dysfunction and symptom onset in psychosis, but it remains unclear whether this dysfunction is driven by aberrant bottom-up subcortical signalling or impaired top-down cortical regulation.
Cerebral organoids containing an AUTS2 missense variant model microcephaly
Summer R Fair, Wesley Schwind, Dominic L Julian, Alecia Biel, Gongbo Guo, Ryan Rutherford, Swetha Ramadesikan, Jesse Westfall, Katherine E Miller, Meisam Naeimi Kararoudi, Scott E Hickey, Theresa Mihalic Mosher, Kim L McBride, Reid Neinast, James Fitch, Dean A Lee, Peter White, Richard K Wilson, Tracy A Bedrosian, Daniel C Koboldt, Mark E Hester
doi : 10.1093/brain/awac244
Brain, Volume 146, Issue 1, January 2023, Pages 387–404
Variants in the AUTS2 gene are associated with a broad spectrum of neurological conditions characterized by intellectual disability, microcephaly, and congenital brain malformations.
The unintended preservation of the cultural divide
G D Schott, MD, FRCP
doi : 10.1093/brain/awac400
Brain, Volume 146, Issue 1, January 2023, Pages 405–406
Biallelic ZBTB11 variants associated with complex neuropsychiatric phenotype featuring Tourette syndrome
Marcello Scala, Elisa De Grandis, Giulia Nobile, Michele Iacomino, Francesca Madia, Valeria Capra, Lino Nobili, Federico Zara, Pasquale Striano
doi : 10.1093/brain/awac323
Brain, Volume 146, Issue 1, January 2023, Pages e1–e4
Correction to: Normative intracranial EEG maps epileptogenic tissues in focal epilepsy
doi : 10.1093/brain/awac337
Brain, Volume 146, Issue 1, January 2023, Page e5
Correction to: Detection of neuron-derived pathological α-synuclein in blood
doi : 10.1093/brain/awac370
Brain, Volume 146, Issue 1, January 2023, Page e6
Correction to: Profiling PI3K-AKT-MTOR variants in focal brain malformations reveals new insights for diagnostic care
doi : 10.1093/brain/awac369
Brain, Volume 146, Issue 1, January 2023, Pages e7–e8
Correction to: New genotype-phenotype correlations in a large European cohort of patients with sarcoglycanopathy
doi : 10.1093/brain/awac371
Brain, Volume 146, Issue 1, January 2023, Page e9,
Correction to: CSF-derived extracellular vesicles from patients with Parkinson’s disease induce symptoms and pathology
doi : 10.1093/brain/awac468
Brain, Volume 146, Issue 1, January 2023, Page e10
