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Neurodevelopmental diseases

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https://www.readbyqxmd.com/read/29342275/hot-spot-kif5a-mutations-cause-familial-als
#1
David Brenner, Rüstem Yilmaz, Kathrin Müller, Torsten Grehl, Susanne Petri, Thomas Meyer, Julian Grosskreutz, Patrick Weydt, Wolfgang Ruf, Christoph Neuwirth, Markus Weber, Susana Pinto, Kristl G Claeys, Berthold Schrank, Berit Jordan, Antje Knehr, Kornelia Günther, Annemarie Hübers, Daniel Zeller, Christian Kubisch, Sibylle Jablonka, Michael Sendtner, Thomas Klopstock, Mamede de Carvalho, Anne Sperfeld, Guntram Borck, Alexander E Volk, Johannes Dorst, Joachim Weis, Markus Otto, Joachim Schuster, Kelly Del Tredici, Heiko Braak, Karin M Danzer, Axel Freischmidt, Thomas Meitinger, Tim M Strom, Albert C Ludolph, Peter M Andersen, Jochen H Weishaupt
Heterozygous missense mutations in the N-terminal motor or coiled-coil domains of the kinesin family member 5A (KIF5A) gene cause monogenic spastic paraplegia (HSP10) and Charcot-Marie-Tooth disease type 2 (CMT2). Moreover, heterozygous de novo frame-shift mutations in the C-terminal domain of KIF5A are associated with neonatal intractable myoclonus, a neurodevelopmental syndrome. These findings, together with the observation that many of the disease genes associated with amyotrophic lateral sclerosis disrupt cytoskeletal function and intracellular transport, led us to hypothesize that mutations in KIF5A are also a cause of amyotrophic lateral sclerosis...
January 12, 2018: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/29339533/learning-dependent-chromatin-remodeling-highlights-noncoding-regulatory-regions-linked-to-autism
#2
John N Koberstein, Shane G Poplawski, Mathieu E Wimmer, Giulia Porcari, Charlly Kao, Bruce Gomes, Davide Risso, Hakon Hakonarson, Nancy R Zhang, Robert T Schultz, Ted Abel, Lucia Peixoto
Autism spectrum disorder (ASD) is a prevalent neurodevelopmental disorder that is associated with genetic risk factors. Most human disease-associated single-nucleotide polymorphisms (SNPs) are not located in genes but rather are in regulatory regions that control gene expression. The function of regulatory regions is determined through epigenetic mechanisms. Parallels between the cellular basis of development and the formation of long-term memory have long been recognized, particularly the role of epigenetic mechanisms in both processes...
January 16, 2018: Science Signaling
https://www.readbyqxmd.com/read/29334242/development-and-disease-in-a-dish-the-epigenetics-of-neurodevelopmental-disorders
#3
Emily Ma Lewis, Kristen L Kroll
Human neurodevelopmental disorders (NDDs) involve mutations in hundreds of individual genes, with over-representation in genes encoding proteins that alter chromatin structure to modulate gene expression. Here, we highlight efforts to model these NDDs through in vitro differentiation of patient-specific induced pluripotent stem cells into neurons. We discuss how epigenetic regulation controls normal cortical development, how mutations in several classes of epigenetic regulators contribute to NDDs, and approaches for modeling cortical development and function using both directed differentiation and formation of cerebral organoids...
January 15, 2018: Epigenomics
https://www.readbyqxmd.com/read/29331932/cnv-biology-in-neurodevelopmental-disorders
#4
REVIEW
Toru Takumi, Kota Tamada
Copy number variants (CNVs), characterized in recent years by cutting-edge technology, add complexity to our knowledge of the human genome. CNVs contribute not only to human diversity but also to different kinds of diseases including neurodevelopmental delay, autism spectrum disorder and neuropsychiatric diseases. Interestingly, many pathogenic CNVs are shared among these diseases. Studies suggest that pathophysiology of disease may not be simply attributed to a single driver gene within a CNV but also that multifactorial effects may be important...
January 10, 2018: Current Opinion in Neurobiology
https://www.readbyqxmd.com/read/29330883/genotype-phenotype-correlations-in-individuals-with-pathogenic-rere-variants
#5
Valerie K Jordan, Brieana Fregeau, Xiaoyan Ge, Jessica Giordano, Ronald J Wapner, Tugce B Balci, Melissa T Carter, John A Bernat, Amanda N Moccia, Anshika Srivastava, Donna M Martin, Stephanie L Bielas, John Pappas, Melissa D Svoboda, Marlène Rio, Nathalie Boddaert, Vincent Cantagrel, Andrea M Lewis, Fernando Scaglia, Jennefer N Kohler, Jonathan A Bernstein, Annika M Dries, Jill A Rosenfeld, Colette DeFilippo, Willa Thorson, Yaping Yang, Elliott H Sherr, Weimin Bi, Daryl A Scott
Heterozygous variants in the arginine-glutamic acid dipeptide repeats gene (RERE) have been shown to cause neurodevelopmental disorder with or without anomalies of the brain, eye, or heart (NEDBEH). Here we report nine individuals with NEDBEH who carry partial deletions or deleterious sequence variants in RERE. These variants were found to be de novo in all cases in which parental samples were available. An analysis of data from individuals with NEDBEH suggests that point mutations affecting the Atrophin-1 domain of RERE are associated with an increased risk of structural eye defects, congenital heart defects, renal anomalies and sensorineural hearing loss when compared to loss-of-function variants that are likely to lead to haploinsufficiency...
January 13, 2018: Human Mutation
https://www.readbyqxmd.com/read/29329089/neural-circuit-dysfunction-in-mouse-models-of-neurodevelopmental-disorders
#6
REVIEW
Isabel Del Pino, Beatriz Rico, Oscar Marín
Neuropsychiatric disorders arise from the alteration of normal brain developmental trajectories disrupting the function of specific neuronal circuits. Recent advances in human genetics have greatly accelerated the identification of genes whose variation increases the susceptibility for neurodevelopmental disorders, most notably for autism spectrum disorder (ASD) and schizophrenia. In parallel, experimental studies in animal models-most typically in mice-are beginning to shed light on the role of these genes in the development and function of specific brain circuits...
January 9, 2018: Current Opinion in Neurobiology
https://www.readbyqxmd.com/read/29327796/speech-characteristics-in-the-congenital-and-childhood-onset-forms-of-myotonic-dystrophy-type-1
#7
Lotta Sjögreen, Åsa Mårtensson, Anne-Berit Ekström
BACKGROUND: Myotonic dystrophy type 1 (DM1) is a slowly progressive multi-systemic disease with an autosomal-dominant inheritance caused by a mutation on chromosome 19 (19q13.3). AIMS: To explore speech characteristics in a group of individuals with the congenital and childhood-onset forms of DM1 in terms of intelligibility, speech-sound production, nasality and compensatory articulation. A further aim was to analyse whether speech characteristics were correlated to subforms of DM1 and if speech outcome could be related to muscle strength...
January 12, 2018: International Journal of Language & Communication Disorders
https://www.readbyqxmd.com/read/29327725/whole-genome-sequencing-reveals-principles-of-brain-retrotransposition-in-neurodevelopmental-disorders
#8
Jasmine Jacob-Hirsch, Eran Eyal, Binyamin A Knisbacher, Jonathan Roth, Karen Cesarkas, Chen Dor, Sarit Farage-Barhom, Vered Kunik, Amos J Simon, Moran Gal, Michal Yalon, Sharon Moshitch-Moshkovitz, Rick Tearle, Shlomi Constantini, Erez Y Levanon, Ninette Amariglio, Gideon Rechavi
Neural progenitor cells undergo somatic retrotransposition events, mainly involving L1 elements, which can be potentially deleterious. Here, we analyze the whole genomes of 20 brain samples and 80 non-brain samples, and characterized the retrotransposition landscape of patients affected by a variety of neurodevelopmental disorders including Rett syndrome, tuberous sclerosis, ataxia-telangiectasia and autism. We report that the number of retrotranspositions in brain tissues is higher than that observed in non-brain samples and even higher in pathologic vs normal brains...
January 12, 2018: Cell Research
https://www.readbyqxmd.com/read/29325621/genetics-of-autism-spectrum-disorder
#9
Gokul Ramaswami, Daniel H Geschwind
Autism spectrum disorder (ASD) is a prevalent neurodevelopmental disorder characterized by impaired social interaction and stereotyped behaviors. ASD has a strong and complex genetic component, with multiple familial inheritance patterns and an estimate of up to 1000 genes potentially implicated. Over the past decade, genomic technologies have enabled rapid progress in the identification of risk genes for ASD. In this chapter, we review the delineation of ASD disease genes starting from traditional genetic studies such as linkage and association, and then focusing on more recent studies utilizing genomic technologies, such as high-throughput genotyping and exome sequencing...
2018: Handbook of Clinical Neurology
https://www.readbyqxmd.com/read/29318587/new-perspectives-on-the-role-of-melatonin-in-human-sleep-circadian-rhythms-and-their-regulation
#10
REVIEW
N Zisapel
In mammals a central circadian clock, located in the suprachiasmatic nuclei (SCN) of the hypothalamus, tunes the innate circadian physiological rhythms to the ambient 24h light-dark cycle to invigorate and optimize the internal temporal order. The SCN-activated, light- inhibited production of melatonin conveys the message of darkness to the clock and induces night state in physiological function, e.g., sleep/wake blood pressure and metabolism. Clinically meaningful effects of melatonin treatment have been demonstrated in placebo-controlled trials in humans, particularly in disorders associated with diminished or misaligned melatonin rhythms, e...
January 10, 2018: British Journal of Pharmacology
https://www.readbyqxmd.com/read/29316492/synapse-to-nucleus-communication-from-developmental-disorders-to-alzheimer-s-disease
#11
REVIEW
Elena Marcello, Monica Di Luca, Fabrizio Gardoni
In the last decade several synaptonuclear protein messengers including Jacob, CRTC1, AIDA-1, ProSaP2/Shank3 and RNF10 have been identified and characterized as key players for modulation of synaptic transmission and synaptic plasticity. Activation of excitatory glutamatergic synapses leads to their shuttling from the synapse to the nucleus, mostly importin-mediated, and subsequent regulation of gene transcription needed for long lasting modifications of synaptic function. Accordingly, increasing evidences show that alterations of the activity of synaptonuclear messengers are correlated to synaptic failure as observed in different synaptopathies...
January 6, 2018: Current Opinion in Neurobiology
https://www.readbyqxmd.com/read/29311744/mutations-in-vps15-perturb-neuronal-migration-in-mice-and-are-associated-with-neurodevelopmental-disease-in-humans
#12
Thomas Gstrein, Andrew Edwards, Anna Přistoupilová, Ines Leca, Martin Breuss, Sandra Pilat-Carotta, Andi H Hansen, Ratna Tripathy, Anna K Traunbauer, Tobias Hochstoeger, Gavril Rosoklija, Marco Repic, Lukas Landler, Viktor Stránecký, Gerhard Dürnberger, Thomas M Keane, Johannes Zuber, David J Adams, Jonathan Flint, Tomas Honzik, Marta Gut, Sergi Beltran, Karl Mechtler, Elliott Sherr, Stanislav Kmoch, Ivo Gut, David A Keays
The formation of the vertebrate brain requires the generation, migration, differentiation and survival of neurons. Genetic mutations that perturb these critical cellular events can result in malformations of the telencephalon, providing a molecular window into brain development. Here we report the identification of an N-ethyl-N-nitrosourea-induced mouse mutant characterized by a fractured hippocampal pyramidal cell layer, attributable to defects in neuronal migration. We show that this is caused by a hypomorphic mutation in Vps15 that perturbs endosomal-lysosomal trafficking and autophagy, resulting in an upregulation of Nischarin, which inhibits Pak1 signaling...
January 8, 2018: Nature Neuroscience
https://www.readbyqxmd.com/read/29311338/faulty-neuronal-determination-and-cell-polarization-are-reverted-by-modulating-hd-early-phenotypes
#13
P Conforti, D Besusso, V D Bocchi, A Faedo, E Cesana, G Rossetti, V Ranzani, C N Svendsen, L M Thompson, M Toselli, G Biella, M Pagani, E Cattaneo
Increasing evidence suggests that early neurodevelopmental defects in Huntington's disease (HD) patients could contribute to the later adult neurodegenerative phenotype. Here, by using HD-derived induced pluripotent stem cell lines, we report that early telencephalic induction and late neural identity are affected in cortical and striatal populations. We show that a large CAG expansion causes complete failure of the neuro-ectodermal acquisition, while cells carrying shorter CAGs repeats show gross abnormalities in neural rosette formation as well as disrupted cytoarchitecture in cortical organoids...
January 8, 2018: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/29306518/brain-related-comorbidities-in-boys-and-men-with-duchenne-muscular-dystrophy-a-descriptive-study
#14
Ruben G F Hendriksen, Johan S H Vles, Marlien W Aalbers, Richard F M Chin, Jos G M Hendriksen
AIM: Duchenne Muscular Dystrophy (DMD) is more than a muscle disease since there is a higher prevalence of neuropsychological comorbidities. Similarly, the prevalence of epilepsy is increased. Given the nowadays-increasing interest in brain-related comorbidities in DMD, this study aimed to evaluate the relationship between DMD, epilepsy, and associated neurodevelopmental disorders in an international sample of DMD patients. METHOD: Using a questionnaire-based study we investigated the occurrence of self/by-proxy reported brain-related comorbidities in a group of 228 DMD patients...
December 18, 2017: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/29306492/outcomes-of-surgical-ligation-after-unsuccessful-pharmacotherapy-for-patent-ductus-arteriosus-in-neonates-born-extremely-preterm
#15
Dany E Weisz, Lucia Mirea, Maura H F Resende, Linh Ly, Paige T Church, Edmond Kelly, S Joseph Kim, Amish Jain, Patrick J McNamara, Prakesh S Shah
A retrospective cohort study of neonates born extremely preterm with persistent patent ductus arteriosus after unsuccessful pharmacologic closure compared outcomes between 166 surgically ligated and 142 nonligated neonates. After adjustment for confounders, ligation was not associated with the composite outcome of death or neurodevelopmental impairment, neurodevelopmental impairment alone, chronic lung disease, or retinopathy of prematurity among survivors.
January 3, 2018: Journal of Pediatrics
https://www.readbyqxmd.com/read/29306331/fc-gamma-receptors-are-expressed-in-the-developing-rat-brain-and-activate-downstream-signaling-molecules-upon-cross-linking-with-immune-complex
#16
Marianna Stamou, Ana Cristina Grodzki, Marc van Oostrum, Bernd Wollscheid, Pamela J Lein
BACKGROUND: Exposure of the developing brain to immune mediators, including antibodies, is postulated to increase risk for neurodevelopmental disorders and neurodegenerative disease. It has been suggested that immunoglobulin G-immune complexes (IgG-IC) activate Fc gamma receptors (FcγR) expressed on neurons to modify signaling events in these cells. However, testing this hypothesis is hindered by a paucity of data regarding neuronal FcγR expression and function. METHODS: FcγR transcript expression in the hippocampus, cortex, and cerebellum of neonatal male and female rats was investigated ex vivo and in mixed cultures of primary hippocampal and cortical neurons and astrocytes using quantitative PCR analyses...
January 6, 2018: Journal of Neuroinflammation
https://www.readbyqxmd.com/read/29305226/extracorporeal-membrane-oxygenation-in-congenital-heart-disease
#17
REVIEW
Kiona Y Allen, Catherine K Allan, Lillian Su, Mary E McBride
This review article will discuss the indications for and outcomes of neonates with congenital heart disease who receive extracorporeal membrane oxygenation (ECMO) support. Most commonly, ECMO is used as a perioperative bridge to recovery or temporary support for those after cardiac arrest or near arrest in patients with congenital or acquired heart disease. What had historically been considered a contraindication to ECMO, is evolving and more of the sickest and most complicated babies are cared for on ECMO...
January 2, 2018: Seminars in Perinatology
https://www.readbyqxmd.com/read/29303843/cognition-emotional-health-and-immunological-markers-in-children-with-long-term-nonprogressive-hiv
#18
Robert Paul, Tanakorn Apornpong, Wasana Prasitsuebsai, Thanyawee Puthanakit, Vonthanak Saphonn, Linda Aurpibul, Pope Kosalaraksa, Suparat Kanjanavanit, Wicharn Luesomboon, Chaiwat Ngampiyaskul, Tulathip Suwanlerk, Kea Chettra, William T Shearer, Victor Valcour, Jintanat Ananworanich, Stephen Kerr
BACKGROUND: HIV-infected children with long-term nonprogressive disease (LTNPs) eventually convert to a progressive disease type, yet the extent to which these children experience the cognitive and emotional symptoms observed in typical progressive HIV (Progressors) is unknown. METHODS: Eighty-eight LTNPs, 53 Progressors, and 323 healthy controls completed annual assessments of cognitive and emotional health as part of a prospective study. The two HIV-infected groups and the healthy controls were matched on age and sex distribution at enrollment...
January 4, 2018: Journal of Acquired Immune Deficiency Syndromes: JAIDS
https://www.readbyqxmd.com/read/29301575/warburg-effect-hypothesis-in-autism-spectrum-disorders
#19
REVIEW
Alexandre Vallée, Jean-Noël Vallée
Autism spectrum disorder (ASD) is a neurodevelopmental disease which is characterized by a deficit in social interactions and communication with repetitive and restrictive behavior. In altered cells, metabolic enzymes are modified by the dysregulation of the canonical WNT/β-catenin pathway. In ASD, the canonical WNT/β-catenin pathway is upregulated. We focus this review on the hypothesis of Warburg effect stimulated by the overexpression of the canonical WNT/β-catenin pathway in ASD. Upregulation of WNT/β-catenin pathway induces aerobic glycolysis, named Warburg effect, through activation of glucose transporter (Glut), pyruvate kinase M2 (PKM2), pyruvate dehydrogenase kinase 1(PDK1), monocarboxylate lactate transporter 1 (MCT-1), lactate dehydrogenase kinase-A (LDH-A) and inactivation of pyruvate dehydrogenase complex (PDH)...
January 4, 2018: Molecular Brain
https://www.readbyqxmd.com/read/29298438/influence-of-pco2-control-on-clinical-and-neurodevelopmental-outcomes-of-extremely-low-birth-weight-infants
#20
Ulrich H Thome, Jens Dreyhaupt, Orsolya Genzel-Boroviczeny, Bettina Bohnhorst, Manuel Schmid, Hans Fuchs, Oliver Rohde, Stefan Avenarius, Hans-Georg Topf, Andrea Zimmermann, Dirk Faas, Katharina Timme, Barbara Kleinlein, Horst Buxmann, Wilfried Schenk, Hugo Segerer, Norbert Teig, Benjamin Ackermann, Roland Hentschel, Matthias Heckmann, Rolf Schlösser, Jochen Peters, Rainer Rossi, Wolfgang Rascher, Ralf Böttger, Jürgen Seidenberg, Gesine Hansen, Harald Bode, Maria Zernickel, Rainer Muche, Helmut D Hummler
BACKGROUND: Levels or fluctuations in the partial pressure of CO2 (PCO2) may affect outcomes for extremely low birth weight infants. OBJECTIVES: In an exploratory analysis of a randomized trial, we hypothesized that the PCO2 values achieved could be related to significant outcomes. METHODS: On each treatment day, infants were divided into 4 groups: relative hypocapnia, normocapnia, hypercapnia, or fluctuating PCO2. Ultimate assignment to a group for the purpose of this analysis was made according to the group in which an infant spent the most days...
January 4, 2018: Neonatology
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