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https://www.readbyqxmd.com/read/29031747/sleep-phenotypes-in-infants-and-toddlers-with-neurogenetic-syndromes
#1
Emily A Abel, Bridgette L Tonnsen
BACKGROUND: Although sleep problems are well characterized in preschool- and school-age children with neurogenetic syndromes, little is known regarding the early emergence of these problems in infancy and toddlerhood. To inform syndrome-specific profiles and targets for intervention, we compared parent-reported sleep problems in infants and toddlers with Angelman syndrome (AS), Williams syndrome (WS), and Prader-Willi syndrome (PWS) with patterns observed among same-aged typically developing (TD) controls...
October 2017: Sleep Medicine
https://www.readbyqxmd.com/read/28971443/cerebral-thrombosis-a-neurogenetic-approach
#2
Christos Yapijakis
Cerebral venous thrombosis (CVT) is a severe multifactorial condition with various clinical manifestations that may include headache, papilledema, seizures, focal deficits, coma and death. The mortality rate of untreated CVT is up to 50%, but it drops to 10% when CVT is properly treated. Prevention of CVT is feasible through healthy lifestyle, genetic counseling, molecular genetic analysis for common thrombophilia-related mutations, and prophylactic anticoagulative medication.
2017: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/28964285/pediatric-leukodystrophies-the-role-of-the-otolaryngologist
#3
Emily Kay-Rivest, Léticia Khendek, Geneviève Bernard, Sam J Daniel
BACKGROUND: Leukodystrophies consist of degenerative neurogenetic diseases often associated with comorbidities that extend beyond the neurological system. Despite their impacts on patients' quality of life and risks of complications, head and neck symptomology is poorly reported in the literature. The objective of this study was to identify and quantify the main head and neck complaints among a cohort of patients diagnosed with leukodystrophies and define the role of the otolaryngologist as part of a multidisciplinary team for treating these patients...
October 2017: International Journal of Pediatric Otorhinolaryngology
https://www.readbyqxmd.com/read/28958832/gch1-mutations-are-common-in-serbian-patients-with-dystonia-parkinsonism-challenging-previously-reported-prevalence%C3%A2-rates-of-dopa-responsive-dystonia
#4
Valerija Dobričić, Aleksandra Tomić, Vesna Branković, Nikola Kresojević, Milena Janković, Ana Westenberger, Vedrana Milić Rašić, Christine Klein, Ivana Novaković, Marina Svetel, Vladimir S Kostić
BACKGROUND: GTP cyclohydrolase 1-deficient DOPA-responsive dystonia, caused by autosomal dominant mutation in the gene coding for GTP cyclohydrolase 1, is a rare disorder with a reported prevalence of 0.5 per million. A correct diagnosis of DRD is crucial, given that this is an exquisitely treatable neurogenetic disorder. Although genetic testing is now widely available, we hypothesize that DRD is still underdiagnosed and its prevalence underestimated. METHODS: Molecular genetic analysis of the GCH1 gene was performed in a representative cohort of 47 Serbian patients with clinical features of DRD and in their 16 available relatives...
September 18, 2017: Parkinsonism & related Disorders
https://www.readbyqxmd.com/read/28949821/logical-and-methodological-issues-affecting-genetic-studies-of-humans-reported-in-top-neuroscience-journals
#5
Clara R Grabitz, Katherine S Button, Marcus R Munafò, Dianne F Newbury, Cyril R Pernet, Paul A Thompson, Dorothy V M Bishop
Genetics and neuroscience are two areas of science that pose particular methodological problems because they involve detecting weak signals (i.e., small effects) in noisy data. In recent years, increasing numbers of studies have attempted to bridge these disciplines by looking for genetic factors associated with individual differences in behavior, cognition, and brain structure or function. However, different methodological approaches to guarding against false positives have evolved in the two disciplines. To explore methodological issues affecting neurogenetic studies, we conducted an in-depth analysis of 30 consecutive articles in 12 top neuroscience journals that reported on genetic associations in nonclinical human samples...
September 26, 2017: Journal of Cognitive Neuroscience
https://www.readbyqxmd.com/read/28934028/toward-neuroproteomics-in-biological-psychiatry-a-systems-approach-unravels-okadaic-acid-induced-alterations-in-the-neuronal-phosphoproteome
#6
Joana Machado Oliveira, Cristóvão B da Cruz E Silva, Thorsten Müller, Tânia Soares Martins, Marta Cova, Odete A B da Cruz E Silva, Ana Gabriela Henriques
Neuroproteomics is an evolving field of postgenomic medicine, highlighting the convergence of psychiatry/neurology and proteomics, yet compared with neurogenetics, it has received little attention. This study in rat primary neuronal cultures provides an example of a neuroproteomic approach relevant to the study of psychiatric disease pathophysiology, focusing on Alzheimer's disease. In this context, okadaic acid (OA) is routinely used in experimental designs to investigate phosphorylation-mediated events. It is a potent protein phosphatase (PP) inhibitor, particularly of PP1 and PP2A...
September 2017: Omics: a Journal of Integrative Biology
https://www.readbyqxmd.com/read/28921525/comorbid-symptoms-of-inattention-autism-and-executive-cognition-in-youth-with-putative-genetic-risk
#7
Anne B Arnett, Brianna E Cairney, Arianne S Wallace, Jennifer Gerdts, Tychele N Turner, Evan E Eichler, Raphael A Bernier
BACKGROUND: Symptoms of autism spectrum disorder (ASD) and inattention (IA) are highly comorbid and associated with deficits in executive cognition. Cognitive deficits have been posited as candidate endophenotypes of psychiatric traits, but few studies have conceptualized cognitive deficits as psychiatric comorbidities. The latter model is consistent with a latent factor reflecting broader liability to neuropsychological dysfunction, and explains heterogeneity in the cognitive profile of individuals with ASD and IA...
September 18, 2017: Journal of Child Psychology and Psychiatry, and Allied Disciplines
https://www.readbyqxmd.com/read/28898621/-investigation-of-genetic-aetiology-in-neurodegenerative-ataxias-recommendations-from-the-group-of-neurogenetics-of-centro-hospitalar-s%C3%A3-o-jo%C3%A3-o-portugal
#8
Tiago Gomes, Joana Guimaraes, Miguel Leão
In recent decades, a long and increasing list of monogenic neurodegenerative ataxias has been identified, allowing for better characterization of the pathophysiology, phenotype and prognosis of this heterogeneous group of disorders, while also revealing potential new therapeutic targets. However, the heterogeneity and complexity of the genotype-phenotype relationships and the high costs of molecular genetics often make it difficult for clinicians to decide on a molecular investigation based on an unbiased rational plan...
June 30, 2017: Acta Médica Portuguesa
https://www.readbyqxmd.com/read/28895939/sleep-disorders-in-childhood-neurogenetic-disorders
#9
REVIEW
Laura Beth Mann Dosier, Bradley V Vaughn, Zheng Fan
enetic advances in the past three decades have transformed our understanding and treatment of many human diseases including neurogenetic disorders. Most neurogenetic disorders can be classified as "rare disease," but collectively neurogenetic disorders are not rare and are commonly encountered in general pediatric practice. The authors decided to select eight relatively well-known neurogenetic disorders including Down syndrome, Angelman syndrome, Prader-Willi syndrome, Smith-Magenis syndrome, congenital central hypoventilation syndrome, achondroplasia, mucopolysaccharidoses, and Duchenne muscular dystrophy...
September 12, 2017: Children
https://www.readbyqxmd.com/read/28887539/neurogenetic-plasticity-and-sex-influence-the-link-between-corticolimbic-structural-connectivity-and-trait-anxiety
#10
M Justin Kim, Reut Avinun, Annchen R Knodt, Spenser R Radtke, Ahmad R Hariri
Corticolimbic pathways connecting the amygdala and ventral prefrontal cortex (vPFC) are linked with trait anxiety, but it remains unclear what potential genetic moderators contribute to this association. We sought to address this by examining the inter-individual variability in neuroplasticity as modeled by a functional polymorphism (rs6265) in the human gene for brain derived neurotrophic factor (BDNF). Amygdala-vPFC pathway fractional anisotropy (FA) from 669 diffusion magnetic resonance images was used to examine associations with trait anxiety as a function of rs6265 genotype...
September 8, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28872135/methods-and-tips-for-intravenous-administration-of-adeno-associated-virus-to-rats-and-evaluation-of-central-nervous-system-transduction
#11
Mychal S Grames, Kasey L Jackson, Robert D Dayton, John A Stanford, Ronald L Klein
Adeno-associated virus (AAV) vectors are a key reagent in the neurosciences for clustered regularly interspaced short palindromic repeats (CRISPR), optogenetics, cre-lox targeting, etc. The purpose of this manuscript is to aid the investigator attempting expansive central nervous system (CNS) gene transfer in the rat via tail vein injection of AAV. Wide-scale expression is relevant for conditions with widespread pathology, and a rat model is significant due to its greater size and physiologic similarities to humans compared to mice...
August 25, 2017: Journal of Visualized Experiments: JoVE
https://www.readbyqxmd.com/read/28868955/neurogenetics-of-drosophila-circadian-clock-expect-the-unexpected
#12
Patricia Jarabo, Francisco A Martin
Daily biological rhythms (i.e. circadian) are a fundamental part of animal behavior. Numerous reports have shown disruptions of the biological clock in neurodegenerative disorders and cancer. In the latter case, only recently we have gained insight into the molecular mechanisms. After 45 years of intense study of the circadian rhtythms, we find surprising similarities among species on the molecular clock that governs biological rhythms. Indeed, Drosophila is one of the most widely used models in the study of chronobiology...
September 4, 2017: Journal of Neurogenetics
https://www.readbyqxmd.com/read/28867340/bdnf-val-66-met-polymorphism-tunes-frontolimbic-circuitry-during-affective-contextual-learning
#13
Mbemba Jabbi, Brett Cropp, Tiffany Nash, Philip Kohn, J Shane Kippenhan, Joseph C Masdeu, Raghav Mattay, Bhaskar Kolachana, Karen F Berman
Adaptive learning impairments are common in cognitive and behavioral disorders, but the neurogenetic mechanisms supporting human affective learning are poorly understood. We designed a higher-order contextual learning task in which healthy participants genotyped for the Val(66)Met polymorphism of the brain derived neurotropic factor gene (BDNF) were required to choose the member of a picture pair most congruent with the emotion in a previously-viewed facial expression video in order to produce an advantageous monetary outcome...
September 1, 2017: NeuroImage
https://www.readbyqxmd.com/read/28865345/white-matter-microstructural-deficits-in-22q11-2-deletion-syndrome
#14
David R Roalf, J Eric Schmitt, Simon N Vandekar, Theodore D Satterthwaite, Russell T Shinohara, Kosha Ruparel, Mark A Elliott, Karthik Prabhakaran, Donna M McDonald-McGinn, Elaine H Zackai, Ruben C Gur, Beverly S Emanuel, Raquel E Gur
Diffusion tensor imaging (DTI) studies in 22q11.2 deletion syndrome (22q11DS), a neurogenetic condition associated with psychosis, report brain white matter (WM) microstructure aberrations. Several studies report that WM disruptions in 22q11DS are similar to deficits in idiopathic schizophrenia. Yet, DTI results in 22q11DS are inconsistent. We used DTI to compare WM structure in 22q11DS individuals to healthy controls (HC) and explored WM differences in 22q11DS with (+) and without (-) psychosis spectrum symptoms...
August 24, 2017: Psychiatry Research
https://www.readbyqxmd.com/read/28856552/behavioral-markers-of-emergent-stranger-anxiety-in-infants-and-toddlers-with-fragile-x-syndrome
#15
Bridgette Tonnsen, Jessica Scherr, Debra Reisinger, Jane Roberts
Studying anxiety in neurogenetic syndromes may inform the intersection of biological and developmental risks, facilitating effective and targeted interventions. We longitudinally examined stranger fear in infants and toddlers with fragile X syndrome (FXS; n = 46) and typical controls (n = 33), as well as associations between observed stranger fear and rating scales of anxiety, withdrawal and autism features within FXS. Results indicated atypical facial fear in FXS, although facial fear did not index anxiety, autistic symptoms or social withdrawal...
August 30, 2017: Journal of Autism and Developmental Disorders
https://www.readbyqxmd.com/read/28855363/coevolution-in-the-timing-of-gabaergic-and-pyramidal-neuron-maturation-in-primates
#16
Christine J Charvet, Goran Šimić, Ivica Kostović, Vinka Knezović, Mario Vukšić, Mirjana Babić Leko, Emi Takahashi, Chet C Sherwood, Marnin D Wolfe, Barbara L Finlay
The cortex of primates is relatively expanded compared with many other mammals, yet little is known about what developmental processes account for the expansion of cortical subtype numbers in primates, including humans. We asked whether GABAergic and pyramidal neuron production occurs for longer than expected in primates than in mice in a sample of 86 developing primate and rodent brains. We use high-resolution structural, diffusion MR scans and histological material to compare the timing of the ganglionic eminences (GE) and cortical proliferative pool (CPP) maturation between humans, macaques, rats, and mice...
August 30, 2017: Proceedings. Biological Sciences
https://www.readbyqxmd.com/read/28842941/characterization-of-early-communicative-behavior-in-mouse-models-of-neurofibromatosis-type-1
#17
Susan E Maloney, Krystal C Chandler, Corina Anastasaki, Michael A Rieger, David H Gutmann, Joseph D Dougherty
Neurofibromatosis type 1 (NF1) is a monogenic neurodevelopmental disease caused by germline loss-of-function mutations in the NF1 tumor suppressor gene. Cognitive impairments are observed in approximately 80% of children with this disease, with 45-60% exhibiting autism spectrum disorder (ASD) symptomatology. In light of the high comorbidity rate between ASD and NF1, we assessed early communicative behavior by maternal-separation induced pup ultrasonic vocalizations (USV) and developmental milestones in two distinct Nf1 genetically engineered models, one modeling clinical germline heterozygous loss of Nf1 function (Nf1(+/-) mice), and a second with somatic biallelic Nf1 inactivation in neuroglial progenitor cells (Nf1(GFAP) CKO mice)...
August 26, 2017: Autism Research: Official Journal of the International Society for Autism Research
https://www.readbyqxmd.com/read/28831923/the-food-and-drug-addiction-epidemic-targeting-dopamine-homeostasis
#18
Kenneth Blum, Panayotis K Thanos, Gene-Jack Wang, Marcelo Febo, Zsolt Demetrovics, Edward Justin Modestino, Eric R Braverman, David Baron, Rajendra D Badgaiyan, Mark S Gold
Obesity is damaging the lives of more than 300 million people worldwide and maintaining a healthy weight using popular weight loss tactics remains a very difficult undertaking. Managing the obesity problem seems within reach, as better understanding develops, of the function of our genome in drug/nutrient responses. Strategies indicated by this understanding of nutriepigenomics and neurogenetics in the treatment and prevention of metabolic syndrome and obesity include moderation of mRNA expression by DNA methylation, and inhibition of histone deacetylation...
August 22, 2017: Current Pharmaceutical Design
https://www.readbyqxmd.com/read/28821829/neuromodulatory-circuit-effects-on-drosophila-feeding-behaviour-and-metabolism
#19
Anders Eriksson, Marlena Raczkowska, Rapeechai Navawongse, Deepak Choudhury, James C Stewart, Yi Ling Tang, Zhiping Wang, Adam Claridge-Chang
Animals have evolved to maintain homeostasis in a changing external environment by adapting their internal metabolism and feeding behaviour. Metabolism and behaviour are coordinated by neuromodulation; a number of the implicated neuromodulatory systems are homologous between mammals and the vinegar fly, an important neurogenetic model. We investigated whether silencing fly neuromodulatory networks would elicit coordinated changes in feeding, behavioural activity and metabolism. We employed transgenic lines that allowed us to inhibit broad cellular sets of the dopaminergic, serotonergic, octopaminergic, tyraminergic and neuropeptide F systems...
August 18, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28816003/prevalence-of-gastrointestinal-symptoms-in-angelman-syndrome
#20
Laura W Glassman, Olivia R Grocott, Portia A Kunz, Anna M Larson, Garrett Zella, Kriston Ganguli, Ronald L Thibert
Angelman syndrome (AS) is a neurogenetic disorder characterized by intellectual disability, expressive speech impairment, movement disorder, epilepsy, and a happy demeanor. Children with AS are frequently reported to be poor feeders during infancy and as having gastrointestinal issues such as constipation, reflux, and abnormal food related behaviors throughout their lifetime. To assess the prevalence of gastrointestinal disorders in individuals with AS, we retrospectively analyzed medical records of 120 individuals seen at the Angelman Syndrome Clinic at Massachusetts General Hospital and 43 individuals seen at the University of North Carolina Comprehensive Angelman Clinic...
August 16, 2017: American Journal of Medical Genetics. Part A
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