journal
https://read.qxmd.com/read/36960552/mitochondrial-dysfunction-and-calcium-dysregulation-in-coq8a-ataxia-purkinje-neurons-are-rescued-by-coq10-treatment
#1
JOURNAL ARTICLE
Ioannis Manolaras, Andrea Del Bondio, Olivier Griso, Laurence Reutenauer, Aurélie Eisenmann, Bianca H Habermann, Hélène Puccio
COQ8A-Ataxia is a rare form of neurodegenerative disorder due to mutations in the COQ8A gene. The encoded mitochondrial protein is involved in the regulation of Coenzyme Q10 biosynthesis. Previous studies on the constitutive Coq8a-/-mice indicated specific alterations of cerebellar Purkinje neurons involving altered electrophysiological function and dark cell degeneration. In the present manuscript, we extend our understanding of the contribution of Purkinje neuron dysfunction to the pathology. By generating a Purkinje specific conditional COQ8A knockout, we demonstrate that loss of COQ8A in Purkinje neurons is the main cause of cerebellar ataxia...
March 24, 2023: Brain
https://read.qxmd.com/read/36947133/neuropathy-due-to-bi-allelic-sh3tc2-variants-genotype-phenotype-correlation-and-natural-history
#2
JOURNAL ARTICLE
Tyler Rehbein, Tong Tong Wu, Simona Treidler, Davide Pareyson, Richard Lewis, Sabrina W Yum, Brett A McCray, Sindhu Ramchandren, Joshua Burns, Jun Li, Richard S Finkel, Steven S Scherer, Stephan Zuchner, Michael E Shy, Mary M Reilly, David N Herrmann
Recessive SH3TC2 variants cause Charcot-Marie-Tooth disease type 4C (CMT4C). CMT4C is typically a sensorimotor demyelinating polyneuropathy, marked by early onset spinal deformities, but its clinical characteristics and severity are quite variable. Clear relationships between pathogenic variants and the spectrum of disease manifestations are to date lacking. Gene replacement therapy has been shown to ameliorate the phenotype in a mouse model of CMT4C, emphasizing the need for natural history studies to inform clinical trial readiness...
March 22, 2023: Brain
https://read.qxmd.com/read/36946303/targeting-mcam-for-next-generation-modulation-of-leucocyte-trafficking
#3
EDITORIAL
Tilman Schneider-Hohendorf, Heinz Wiendl
No abstract text is available yet for this article.
March 22, 2023: Brain
https://read.qxmd.com/read/36944536/correction-to-blood-brain-barrier-opening-of-the-default-mode-network-in-alzheimer-s-disease-with-magnetic-resonance-guided-focused-ultrasound
#4
(no author information available yet)
No abstract text is available yet for this article.
March 22, 2023: Brain
https://read.qxmd.com/read/36943319/thalamocortical-disconnection-involved-in-pusher-syndrome
#5
JOURNAL ARTICLE
Hannah Rosenzopf, Julian Klingbeil, Max Wawrzyniak, Lisa Röhrig, Christoph Sperber, Dorothee Saur, Hans-Otto Karnath
The presence of both, isolated thalamic and isolated cortical lesions have been reported in the context with pusher syndrome - a disorder characterized by a disturbed perception of one's own upright body posture, following unilateral left- or right-sided stroke. In recent times, indirect quantification of functional and structural disconnection increases the knowledge derived from focal brain lesions by inferring subsequent brain network damage from the respective lesion. We applied both measures to a sample of 124 stroke patients to investigate brain disconnection in pusher syndrome...
March 21, 2023: Brain
https://read.qxmd.com/read/36943307/lecanemab-turning-point-or-status-quo-an-ethics-perspective
#6
JOURNAL ARTICLE
Timothy Daly
No abstract text is available yet for this article.
March 21, 2023: Brain
https://read.qxmd.com/read/36929167/clinical-features-and-prognostic-factors-in-adults-with-viral-meningitis
#7
JOURNAL ARTICLE
Pelle Trier Petersen, Jacob Bodilsen, Micha Phill Grønholm Jepsen, Lykke Larsen, Merete Storgaard, Birgitte Rønde Hansen, Jannik Helweg-Larsen, Lothar Wiese, Hans Rudolf Lüttichau, Christian Østergaard Andersen, Henrik Nielsen, Christian Thomas Brandt
Clinical features applicable to the entire spectrum of viral meningitis are limited, and prognostic factors for adverse outcomes are undetermined. This nationwide population-based prospective cohort study included all adults with presumed and microbiologically confirmed viral meningitis in Denmark from 2015 until 2020. Prognostic factors for an unfavourable outcome (Glasgow Outcome Scale score of 1-4) 30 days after discharge were examined by modified Poisson regression. In total, 1066 episodes of viral meningitis were included, yielding a mean annual incidence of 4...
March 16, 2023: Brain
https://read.qxmd.com/read/36928982/mthfd1-is-critical-for-the-negative-regulation-of-retinoic-acid-receptor-signalling-in-anencephaly
#8
JOURNAL ARTICLE
Xie Xiaolu, Li Chuang, Yu Juan, Shaoyan Chang, Cheng Xiyue, Fang Wang, Yihua Bao, Ting Zhang, Wang Shan
Neural tube defects (NTDs) are the most severe congenital malformations that result from failure of neural tube closure during early embryonic development, and the underlying molecular mechanisms remain elusive. Retinoic acid (RA), an active derivative of vitamin A, is critical for neural system development, and retinoic acid receptor (RAR) signalling malfunctions have been observed in human neural tube defects (NTDs). However, RA-RAR signalling regulation and mechanisms in NTDs are not fully understood. The mRNA expression of RARs and retinoid X receptors (RXRs) in the different human NTD phenotypes, including 11 pairs of anencephaly foetuses, 10 pairs of hydrocephalus foetuses and 9 pairs of encephalocele foetuses was investigated by NanoString nCounter technology...
March 16, 2023: Brain
https://read.qxmd.com/read/36928757/latent-disconnectome-prediction-of-long-term-cognitive-behavioural-symptoms-in-stroke
#9
JOURNAL ARTICLE
Lia Talozzi, Stephanie J Forkel, Valentina Pacella, Victor Nozais, Etienne Allart, Céline Piscicelli, Dominic Pérennou, Daniel Tranel, Aaron Boes, Maurizio Corbetta, Parashkev Nachev, Michel Thiebaut de Schotten
Stroke significantly impacts the quality of life. However, the long-term cognitive evolution in stroke is poorly predictable at the individual level. There is an urgent need to better predict long-term symptoms based on acute clinical neuroimaging data. Previous works have demonstrated a strong relationship between the location of white matter disconnections and clinical symptoms. However, rendering the entire space of possible disconnection-deficit associations optimally surveyable will allow for a systematic association between brain disconnections and cognitive-behavioural measures at the individual level...
March 16, 2023: Brain
https://read.qxmd.com/read/36928391/cdnf-rescues-motor-neurons-in-models-of-amyotrophic-lateral-sclerosis-by-targeting-endoplasmic-reticulum-stress
#10
JOURNAL ARTICLE
Francesca De Lorenzo, Patrick Lüningschrör, Jinhan Nam, Liam Beckett, Federica Pilotto, Emilia Galli, Päivi Lindholm, Cora Rüdt von Collenberg, Simon Tii Mungwa, Sibylle Jablonka, Julia Kauder, Nadine Thau-Habermann, Susanne Petri, Dan Lindholm, Smita Saxena, Michael Sendtner, Mart Saarma, Merja H Voutilainen
Amyotrophic lateral sclerosis is a progressive neurodegenerative disease that affects motor neurons (MNs) in the spinal cord, brainstem, and motor cortex, leading to paralysis and eventually to death within 3 to 5 years of symptom onset. To date, no cure or effective therapy is available. The role of chronic endoplasmic reticulum (ER) stress in the pathophysiology of amyotrophic lateral sclerosis, as well as a potential drug target, has received increasing attention. Here, we investigated the mode of action and therapeutic effect of the ER-resident protein cerebral dopamine neurotrophic factor (CDNF) in three preclinical models of amyotrophic lateral sclerosis, exhibiting different disease development and etiology: (i) the conditional choline acetyltransferase (ChAT)-tTA/TRE-hTDP43-M337V rat model previously described, (ii) the widely used SOD1-G93A mouse model, and (iii) a novel slow-progressive TDP43-M337V mouse model...
March 16, 2023: Brain
https://read.qxmd.com/read/36918362/physical-activity-as-an-exogenous-risk-factor-for-amyotrophic-lateral-sclerosis-a-review-of-the-evidence
#11
JOURNAL ARTICLE
Laura Chapman, Johnathan Cooper-Knock, Pamela J Shaw
Amyotrophic lateral sclerosis (ALS) is a rapidly progressive and fatal neurodegenerative disorder. The only established epidemiological risk factors for ALS are male sex and increasing age. The role of physical activity has been debated as an environmental risk factor. Over the last decade multiple studies have attempted to delineate the architecture of ALS. These have not yet established definite risk factors, often due to low-powered studies, lack of focus on at-risk genotypes and sub-optimal methodology...
March 15, 2023: Brain
https://read.qxmd.com/read/36917474/a-homozygous-polr1a-variant-causes-leukodystrophy-and-affects-protein-homeostasis
#12
JOURNAL ARTICLE
Doriana Misceo, Lisa Lirussi, Petter Strømme, Dulika Sumathipala, Andrea Guerin, Nicole I Wolf, Andres Server, Maria Stensland, Bjørn Dalhus, Aslıhan Tolun, Hester Y Kroes, Tuula A Nyman, Hilde L Nilsen, Eirik Frengen
RNA polymerase I transcribes ribosomal DNA to produce precursor 47S rRNA. Post-transcriptional processing of this rRNA generates mature 28S, 18S and 5.8S rRNAs, which form the ribosomes, together with 5S rRNA, assembly factors, and ribosomal proteins. We previously reported a homozygous variant in the catalytic subunit of RNA polymerase I, POLR1A, in two brothers with leukodystrophy and progressive course. However, the disease mechanism remained unknown. In this report, we describe another missense variant POLR1A NM_015425...
March 14, 2023: Brain
https://read.qxmd.com/read/36913258/anoctamin-5-related-muscle-disease-clinical-and-genetic-findings-in-a-large-european-cohort
#13
JOURNAL ARTICLE
Alexander de Bruyn, Federica Montagnese, Sonja Holm-Yildiz, Nanna Scharff Poulsen, Tanya Stojkovic, Anthony Behin, Johanna Palmio, Manu Jokela, Jan L De Bleecker, Marianne de Visser, Anneke J van der Kooi, Leroy Ten Dam, Cristina Domínguez González, Lorenzo Maggi, Annamaria Gallone, Anna Kostera-Pruszczyk, Anna Macias, Anna Łusakowska, Velina Nedkova, Montse Olive, Rodrigo Álvarez-Velasco, Julia Wanschitz, Carmen Paradas, Fabiola Mavillard, Giorgia Querin, Gorka Fernández-Eulate, Ros Quinlivan, Maggie C Walter, Christophe E Depuydt, Bjarne Udd, John Vissing, Benedikt Schoser, Kristl G Claeys
Anoctamin-5 related muscle disease is caused by biallelic pathogenic variants in the anoctamin-5 gene (ANO5) and shows variable clinical phenotypes: limb-girdle muscular dystrophy type 12 (LGMD-R12), distal muscular dystrophy type 3 (MMD3), pseudometabolic myopathy, or asymptomatic hyperCKemia. In this retrospective, observational, multicentre study we gathered a large European cohort of patients with ANO5-related muscle disease to study the clinical and genetic spectrum and genotype-phenotype correlations...
March 13, 2023: Brain
https://read.qxmd.com/read/36913248/the-italian-reappraisal-on-the-most-frequent-genetic-defects-in-hereditary-optic-neuropathies-and-the-global-top-10
#14
JOURNAL ARTICLE
Claudio Fiorini, Danara Ormanbekova, Flavia Palombo, Michele Carbonelli, Giulia Amore, Martina Romagnoli, Pietro d'Agati, Maria Lucia Valentino, Piero Barboni, Maria Lucia Cascavilla, Annamaria De Negri, Federico Sadun, Arturo Carta, Francesco Testa, Vittoria Petruzzella, Silvana Guerriero, Stefania Bianchi Marzoli, Valerio Carelli, Chiara La Morgia, Leonardo Caporali
No abstract text is available yet for this article.
March 13, 2023: Brain
https://read.qxmd.com/read/36907221/the-effect-of-glp-1ra-exenatide-on-idiopathic-intracranial-hypertension-a-randomized-clinical-trial
#15
JOURNAL ARTICLE
James L Mitchell, Hannah S Lyons, Jessica K Walker, Andreas Yiangou, Olivia Grech, Zerin Alimajstorovic, Nigel H Greig, Yazhou Li, Georgios Tsermoulas, Kristian Brock, Susan P Mollan, Alexandra J Sinclair
Therapeutics to reduce intracranial pressure are an unmet need. Preclinical data have demonstrated a novel strategy to lower intracranial pressure using glucagon-like peptide-1 (GLP-1) receptor signalling. Here, we translate these findings into patients by conducting a randomized, placebo-controlled, double-blind trial to assess the effect of exenatide, a GLP-1 receptor agonist, on intracranial pressure in idiopathic intracranial hypertension. Telemetric intracranial pressure catheters enabled long-term intracranial pressure monitoring...
March 13, 2023: Brain
https://read.qxmd.com/read/36897131/should-concepts-of-brain-functions-be-based-on-psychology-or-anatomy-an-echo-from-kurt-goldstein
#16
EDITORIAL
Cornelius Weiller, Michel Rijntjes
No abstract text is available yet for this article.
March 10, 2023: Brain
https://read.qxmd.com/read/36892415/genetically-identical-twin-pair-difference-models-support-the-amyloid-cascade-hypothesis
#17
JOURNAL ARTICLE
Emma M Coomans, Jori Tomassen, Rik Ossenkoppele, Betty M Tijms, Luigi Lorenzini, Mara Ten Kate, Lyduine E Collij, Fiona Heeman, Roos M Rikken, Sophie M van der Landen, Marijke E den Hollander, Sandeep S V Golla, Maqsood Yaqub, Albert D Windhorst, Frederik Barkhof, Philip Scheltens, Eco J C de Geus, Pieter Jelle Visser, Bart N M van Berckel, Anouk den Braber
The amyloid cascade hypothesis has strongly impacted the Alzheimer's disease research agenda and clinical trial designs over the past decades, but precisely how amyloid-β pathology initiates the aggregation of neocortical tau remains unclear. We cannot exclude the possibility of a shared upstream process driving both amyloid-β and tau in an independent manner instead of there being a causal relationship between amyloid-β and tau. Here, we tested the premise that if a causal relationship exists, then exposure should be associated with outcome both at the individual-level as well as within identical twin-pairs, who are strongly matched on genetic, demographic and shared environmental background...
March 9, 2023: Brain
https://read.qxmd.com/read/36941776/climate-change-and-the-brain
#18
JOURNAL ARTICLE
Sanjay M Sisodiya
No abstract text is available yet for this article.
March 8, 2023: Brain
https://read.qxmd.com/read/36883644/microglial-activation-in-the-frontal-cortex-predicts-cognitive-decline-in-frontotemporal-dementia
#19
JOURNAL ARTICLE
Maura Malpetti, Thomas E Cope, Duncan Street, P Simon Jones, Frank H Hezemans, Elijah Mak, Kamen A Tsvetanov, Timothy Rittman, W Richard Bevan-Jones, Karalyn Patterson, Luca Passamonti, Tim D Fryer, Young T Hong, Franklin I Aigbirhio, John T O'Brien, James B Rowe
Frontotemporal dementia is clinically and neuropathologically heterogeneous, but neuroinflammation, atrophy, and cognitive impairment occur in all of its principal syndromes. Across the clinical spectrum of frontotemporal dementia, we assess the predictive value of in vivo neuroimaging measures of microglial activation and grey-matter volume on the rate of future cognitive decline. We hypothesised that inflammation is detrimental to cognitive performance, in addition to the effect of atrophy. Thirty patients with a clinical diagnosis of frontotemporal dementia underwent a baseline multi-modal imaging assessment, including [11C]PK11195 positron emission tomography (PET) to index microglial activation, and structural magnetic resonance imaging (MRI) to quantify grey-matter volume...
March 8, 2023: Brain
https://read.qxmd.com/read/36883643/multiomics-and-machine-learning-identify-novel-transcriptional-and-mutational-signatures-in-amyotrophic-lateral-sclerosis
#20
JOURNAL ARTICLE
Alberto Catanese, Sandeep Rajkumar, Daniel Sommer, Pegah Masrori, Nicole Hersmus, Philip Van Damme, Simon Witzel, Albert Ludolph, Ritchie Ho, Tobias M Boeckers, Medhanie Mulaw
Amyotrophic lateral sclerosis (ALS) is a fatal and incurable neurodegenerative disease that mainly affects the neurons of the motor system. Despite the increasing understanding of its genetic components, their biological meanings are still poorly understood. Indeed, it is still not clear to which extent the pathological features associated with ALS are commonly shared by the different genes causally linked to this disorder. To address this point, we combined multi-omics analysis covering the transcriptional, epigenetic and mutational aspects of heterogenous hiPSC-derived C9orf72-, TARDBP-, SOD1- and FUS-mutant motor neurons as well as datasets from patients' biopsies...
March 8, 2023: Brain
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