Use the journals feature with a free QxMD account.
Use Read by QxMD to access full text via your institution or open access sources.
Read also provides personalized recommendations to keep you up to date in your field.
Existing User
Sign InNew to Read
Sign Up#1
JOURNAL ARTICLE
Jean-Christophe Vermoyal, Delphine Hardy, Lucas Goirand-Lopez, Antonin Vinck, Lucas Silvagnoli, Aurélien Fortoul, Fiona Francis, Silvia Cappello, Ingrid Bureau, Alfonso Represa, Carlos Cardoso, Françoise Watrin, Thomas Marissal, Jean-Bernard Manent
Grey matter heterotopia (GMH) are neurodevelopmental disorders associated with abnormal cortical function and epilepsy. Subcortical band heterotopia (SBH) and periventricular nodular heterotopia (PVNH) are two well-recognized GMH subtypes in which neurons are misplaced, either forming nodules lining the ventricles in PVNH, or forming bands in the white matter in SBH. Although both PVNH and SBH are commonly associated with epilepsy, it is unclear whether these two GMH subtypes differ in terms of pathological consequences or, on the contrary, share common altered mechanisms...
September 19, 2023: Brain
#2
JOURNAL ARTICLE
Emma M Coomans, Danielle van Westen, Alexa Pichet Binette, Olof Strandberg, Nicola Spotorno, Geidy E Serrano, Thomas G Beach, Sebastian Palmqvist, Erik Stomrud, Rik Ossenkoppele, Oskar Hansson
Cerebrovascular pathology often co-exists with Alzheimer's disease pathology and can contribute to Alzheimer's disease-related clinical progression. However, the degree to which vascular burden contributes to Alzheimer's disease pathological progression is still unclear. This study aimed to investigate interactions between vascular burden and amyloid-β pathology on both baseline tau tangle load and longitudinal tau accumulation. We included 1,229 participants from the Swedish BioFINDER-2 Study, including cognitively unimpaired and impaired participants with and without biomarker-confirmed amyloid-β pathology...
September 18, 2023: Brain
#3
JOURNAL ARTICLE
Kiran Polavarapu, Balaraju Sunitha, Ana Töpf, Veeramani Preethish-Kumar, Rachel Thompson, Seena Vengalil, Saraswati Nashi, Mainak Bardhan, Sai Bhargava Sanka, Akshata Huddar, Gopikrishnan Unnikrishnan, Gautham Arunachal, Manu Santhappan Girija, Anna Porter, Yoshiteru Azuma, Paulo José Lorenzoni, Dipti Baskar, Ram Murthy Anjanappa, Madassu Keertipriya, Hansashree Padmanabh, Ganaraja Valakunja Harikrishna, Steve Laurie, Leslie Matalonga, Rita Horvath, Atchayaram Nalini, Hanns Lochmüller
Congenital myasthenic syndromes are a rare group of inherited disorders caused by gene defects associated with the neuromuscular junction and potentially treatable with commonly available medications such as acetylcholinesterase inhibitors and beta2 adrenergic receptor agonists. In this study we identify and genetically characterise the largest cohort of congenital myasthenic syndrome patients from India to date. Clinically suspected patients evaluated in a South Indian hospital between 2014-2019 underwent genetic testing either by standard diagnostic methods of gene panel testing or a two-step method of hotspot screening followed by whole-exome sequencing...
September 18, 2023: Brain
#4
JOURNAL ARTICLE
Kai Guo, Claudia Figueroa-Romero, Mohamed H Noureldein, Benjamin J Murdock, Masha G Savelieff, Junguk Hur, Stephen A Goutman, Eva L Feldman
Amyotrophic lateral sclerosis (ALS) is a complex, fatal neurodegenerative disease. Disease pathophysiology is incompletely understood, but evidence suggests gut dysbiosis occurs in ALS, linked to impaired gastrointestinal integrity, immune system dysregulation, and altered metabolism. Gut microbiome and plasma metabolome have been separately investigated in ALS, but little is known about gut microbe-plasma metabolite correlations, which could identify robust disease biomarkers and potentially shed mechanistic insight...
September 18, 2023: Brain
#5
JOURNAL ARTICLE
Luca Fornia, Antonella Leonetti, Guglielmo Puglisi, Marco Rossi, Luca Viganò, Bianca Della Santa, Luciano Simone, Lorenzo Bello, Gabriella Cerri
Despite human's praxis abilities are unique among primates, comparative observations suggest that these cognitive motor skills could have emerged from exploitation and adaptation of phylogenetically older building blocks, namely the parieto-frontal networks sub-serving prehension and manipulation. Within this framework, investigating to which extent praxis and prehension-manipulation overlap and diverge within parieto-frontal circuits could help in understanding how human cognition shapes hand actions. This issue has never been investigated by combining lesion mapping and direct electrophysiological approaches in neurosurgical patients...
September 16, 2023: Brain
#6
JOURNAL ARTICLE
Hashem Almousa, Sara A Lewis, Somayeh Bakhtiari, Sandra Hinz Nordlie, Alex Pagnozzi, Helen Magee, Stephanie Efthymiou, Jennifer A Heim, Patricia Cornejo, Maha S Zaki, Najwa Anwar, Shazia Maqbool, Fatima Rahman, Derek E Neilson, Anusha Vemuri, Sheng Chih Jin, Xiao-Ru Yang, Abolfazl Heidari, Koen van Gassen, Aurélien Trimouille, Christel Thauvin-Robinet, James Liu, Ange-Line Bruel, Hoda Tomoum, Mennatallah O Shata, Mais O Hashem, Mehran Beiraghi Toosi, Ehsan Ghayoor Karimiani, Gözde Yeşil, Lokesh Lingappa, Debangana Baruah, Farnoosh Ebrahimzadeh, Julien Van-Gils, Laurence Faivre, Mina Zamani, Hamid Galehdari, Saeid Sadeghian, Gholamreza Shariati, Rahema Mohammad, Jasper van der Smagt, Alya Qari, John B Vincent, A Micheil Innes, Ali Dursun, R Köksal Özgül, Halil Tuna Akar, Kaya Bilguvar, Cyril Mignot, Boris Keren, Claudia Raveli, Lydie Burglen, Alexandra Afenjar, Laura Donker Kaat, Marjon van Slegtenhorst, Fowzan Alkuraya, Henry Houlden, Sergio Padilla-Lopez, Reza Maroofian, Michael Sacher, Michael C Kruer
Highly conserved transport protein particle (TRAPP) complexes regulate subcellular trafficking pathways. Accurate protein trafficking has been increasingly recognized to be critically important for normal development, particularly in the nervous system. Variants in most TRAPP complex subunits have been found to lead to neurodevelopmental disorders with diverse but overlapping phenotypes. We expand on limited prior reports on TRAPPC6B with detailed clinical and neuroradiologic assessments, and studies on mechanisms of disease, and new types of variants...
September 15, 2023: Brain
#7
JOURNAL ARTICLE
Richard J L F Lemmers, Russell Butterfield, Patrick J van der Vliet, Jan L de Bleecker, Ludo van der Pol, Diane M Dunn, Corrie E Erasmus, Marc D'Hooghe, Kristof Verhoeven, Judit Balog, Anne Bigot, Baziel van Engelen, Jeffrey Statland, Enrico Bugiardini, Nienke van der Stoep, Teresinha Evangelista, Chiara Marini-Bettolo, Peter van den Bergh, Rabi Tawil, Nicol C Voermans, John Vissing, Robert B Weiss, Silvère M van der Maarel
Facioscapulohumeral dystrophy (FSHD) has a unique genetic etiology resulting in partial chromatin relaxation of the D4Z4 macrosatellite repeat array on 4qter. This D4Z4 chromatin relaxation facilitates inappropriate expression of the transcription factor DUX4 in skeletal muscle. DUX4 is encoded by a retrogene which is embedded within the distal region of the D4Z4 repeat array. In the European population, the D4Z4 repeat array is usually organized in a single array that ranges between 8-100 units. D4Z4 chromatin relaxation and DUX4 derepression in FSHD is most often caused by repeat array contraction to 1-10 units (FSHD1) or by a digenic mechanism requiring pathogenic variants in a D4Z4 chromatin repressor like SMCHD1, combined with a repeat array between 8-20 units (FSHD2)...
September 13, 2023: Brain
#8
JOURNAL ARTICLE
Hector Albert-Gasco, Heather L Smith, Beatriz Alvarez-Castelao, Dean Swinden, Mark Halliday, Sudha Janaki-Raman, Adrian Butcher, Giovanna R Mallucci
The unfolded protein response (UPR) is rapidly gaining momentum as a therapeutic target for protein misfolding neurodegenerative diseases, in which its overactivation results in sustained translational repression leading to synapse loss and neurodegeneration. In mouse models of these disorders, from Alzheimer's to prion disease, modulation of the pathway - including by the licensed drug, trazodone - restores global protein synthesis rates with profound neuroprotective effects. However, the precise nature of the translational impairment, in particular the specific proteins affected in disease, and their response to therapeutic UPR modulation are poorly understood...
September 13, 2023: Brain
#9
JOURNAL ARTICLE
Iain J Hartnell, Declan Woodhouse, William Jasper, Luke Mason, Pavan Marwaha, Manon Graffeuil, Laurie C Lau, Jeanette L Norman, David S Chatelet, Luc Buee, James A R Nicoll, David Blum, Guillaume Dorothee, Delphine Boche
Frontotemporal lobar degeneration with tau (FTLD-tau) is a group of tauopathies that underlie ∼50% of frontotemporal lobar degeneration (FTLD) cases. Identification of genetic risk variants related to innate/adaptive immunity have highlighted a role for neuroinflammation and neuroimmune interactions in FTLD. Studies have shown microglial and astrocyte activation together with T cell infiltration in the brain of THY-Tau22 tauopathy mice. However, this remains to be confirmed in FTLD-tau patients. We conducted a detailed post-mortem study of FTLD-Tau cases including 45 Progressive Supranuclear Palsy (PSP) with clinical frontotemporal dementia, 33 Pick's Disease (PiD), 12 FTLD-MAPT and 52 controls to characterise the link between phosphorylated tau (pTau) epitopes and the innate and adaptive immunity...
September 13, 2023: Brain
#10
JOURNAL ARTICLE
Andrea I Luppi, Manesh Girn, Fernando E Rosas, Christopher Timmermann, Leor Roseman, David Erritzoe, David J Nutt, Emmanuel A Stamatakis, R Nathan Spreng, Lei Xing, Wieland B Huttner, Robin L Carhart-Harris
Integrating independent but converging lines of research on brain function and neurodevelopment across scales, this article proposes that serotonin 2A receptor (5-HT2AR) signaling is an evolutionary and developmental driver and potent modulator of the macroscale functional organization of the human cerebral cortex. A wealth of evidence indicates that the anatomical and functional organization of the cortex follows a unimodal-to-transmodal gradient. Situated at the apex of this processing hierarchy - where it plays a central role in the integrative processes underpinning complex, human-defining cognition - the transmodal cortex has disproportionately expanded across human development and evolution...
September 13, 2023: Brain
#11
JOURNAL ARTICLE
Monica Ribeiro, Yordanka Nikolova Yordanova, Vincent Noblet, Guillaume Herbet, Damien Ricard
Executive functions are high-level cognitive processes involving abilities such as working memory/updating, set-shifting and inhibition. These complex cognitive functions are enabled by interactions among widely distributed cognitive networks, supported by white matter tracts. Executive impairment is frequent in neurological conditions affecting white matter; however, whether specific tracts are crucial for normal executive functions is unclear. We review causal and correlation evidence from studies that used direct electrical stimulation during awake surgery for gliomas, voxel-based and tract-based lesion-symptom mapping, and diffusion tensor imaging to explore associations between the integrity of white matter tracts and executive functions in healthy and impaired adults...
September 13, 2023: Brain
#12
JOURNAL ARTICLE
Wenjie Wen, Jinping Cheng, Yamei Tang
Brain perivascular macrophages are specialized populations of macrophages that reside in the space around cerebral vessels, such as penetrating arteries and venules. With the help of cutting-edge technologies such as cell fate mapping and single-cell multi-omics, their multifaceted, pivotal roles in phagocytosis, antigen presentation, vascular integrity maintenance, and metabolic regulation have more recently been further revealed under physiological conditions. Accumulating evidence also implies that perivascular macrophages are involved in the pathogenesis of neurodegenerative disease, cerebrovascular dysfunction, autoimmune disease, traumatic brain injury, and epilepsy...
September 11, 2023: Brain
#13
EDITORIAL
Dennis L Kolson
No abstract text is available yet for this article.
September 8, 2023: Brain
#14
JOURNAL ARTICLE
Nicolas Delestrée, Evangelia Semizoglou, John G Pagiazitis, Aleksandra Vukojicic, Estelle Drobac, Vasilissa Paushkin, George Z Mentis
Neuromodulation by serotonin regulates the activity of neuronal networks responsible for a wide variety of essential behaviours. Serotonin (or 5-HT) typically activates metabotropic G protein-coupled receptors, which in turn initiate second messenger signalling cascades and induce short and long-lasting behavioural effects. Serotonin is intricately involved in the production of locomotor activity and gait control for different motor behaviours. Although dysfunction of serotonergic neurotransmission has been associated with mood disorders and spasticity after spinal cord injury, whether and to what extent such dysregulation is implicated in movement disorders has not been firmly established...
September 7, 2023: Brain
#15
JOURNAL ARTICLE
Joshua B Tan, Eli J Müller, Isabella F Orlando, Natasha L Taylor, Daniel S Margulies, Jennifer Szeto, Simon J G Lewis, James M Shine, Claire O'Callaghan
Visual hallucinations in Parkinson's disease can be viewed from a systems-level perspective, whereby dysfunctional communication between brain networks responsible for perception predisposes a person to hallucinate. To this end, abnormal functional interactions between higher-order and primary sensory networks have been implicated in the pathophysiology of visual hallucinations in Parkinson's disease, however the precise signatures remain to be determined. Dimensionality reduction techniques offer a novel means for simplifying the interpretation of multidimensional brain imaging data, identifying hierarchical patterns in the data that are driven by both within- and between- functional network changes...
September 7, 2023: Brain
#16
JOURNAL ARTICLE
Enya Paschen, Piret Kleis, Diego M Vieira, Katharina Heining, Christian Boehler, Ulrich Egert, Ute Häussler, Carola A Haas
Mesial temporal lobe epilepsy (MTLE), the most common form of focal epilepsy in adults, is often refractory to medication and associated with hippocampal sclerosis. Deep brain stimulation represents an alternative treatment option for drug-resistant patients who are ineligible for resective brain surgery. In clinical practice, closed-loop stimulation at high frequencies is applied to interrupt ongoing seizures, yet with a high incidence of false detections, the drawback of delayed seizure-suppressive intervention and limited success in sclerotic tissue...
September 7, 2023: Brain
#17
JOURNAL ARTICLE
Marie-France Dorion, Moein Yaqubi, Konstantin Senkevich, Nicholas W Kieran, Adam MacDonald, Carol X-Q Chen, Wen Luo, Amber Wallis, Irina Shlaifer, Jeffery A Hall, Roy W R Dudley, Ian A Glass, Jo Anne Stratton, Edward Fon, Tim Bartels, Jack P Antel, Ziv Gan-Or, Thomas M Durcan, Luke M Healy
Mer tyrosine kinase (MerTK) is a receptor tyrosine kinase that mediates non-inflammatory, homeostatic phagocytosis of diverse types of cellular debris. Highly expressed on the surface of microglial cell, MerTK is of importance in brain development, homeostasis, plasticity, and disease. Yet, involvement of this receptor in the clearance of protein aggregates that accumulate with aging and in neurodegenerative diseases has yet to be defined. The current study explored the function of MerTK in the microglial uptake of alpha-synuclein fibrils which play a causative role in the pathobiology of synucleinopathies...
September 6, 2023: Brain
#18
JOURNAL ARTICLE
Kaja Nordengen, Chiara Cappelletti, Shahram Bahrami, Oleksandr Frei, Lasse Pihlstrøm, Sandra Pilar Henriksen, Hanneke Geut, Annemieke J M Rozemuller, Wilma D J van de Berg, Ole A Andreassen, Mathias Toft
Parkinson's disease is an age-related neurodegenerative disorder with a higher incidence in males than females. The causes for this sex difference are unknown. Genome-wide association studies (GWAS) have identified 90 Parkinson's disease risk loci, but the genetic studies have not found sex-specific differences in allele frequency on autosomal chromosomes or sex chromosomes. Genetic variants, however, could exert sex-specific effects on gene function and regulation of gene expression. To identify genetic loci that might have sex-specific effects, we studied pleiotropy between Parkinson's disease and sex-specific traits...
September 6, 2023: Brain
#19
EDITORIAL
Maria Andrea Desbats, Leonardo Salviati
No abstract text is available yet for this article.
September 6, 2023: Brain
#20
JOURNAL ARTICLE
Stella A Polido, Cristiana Stuani, Aaron Voigt, Papiya Banik, Janine Kamps, Verian Bader, Prerna Grover, Laura J Krause, Inga Zerr, Jakob Matschke, Markus Glatzel, Konstanze F Winklhofer, Emanuele Buratti, Jörg Tatzelt
A common pathological denominator of various neurodegenerative diseases is the accumulation of protein aggregates. Neurotoxic effects are caused by a loss of the physiological activity of the aggregating protein and/or a gain of toxic function of the misfolded protein conformers. In transmissible spongiform encephalopathies or prion diseases, neurodegeneration is caused by aberrantly folded isoforms of the prion protein (PrP). However, it is poorly understood how pathogenic PrP conformers interfere with neuronal viability...
September 5, 2023: Brain
Make the most of Read.
Download the mobile app.
Download the mobile app.
Fetching more papers... 
