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https://www.readbyqxmd.com/read/29222831/a-review-of-structural-brain-abnormalities-in-pallister-killian-syndrome
#1
Cathryn Poulton, Gareth Baynam, Clarissa Yates, Hamid Alinejad-Rokny, Simon Williams, Helen Wright, Karen J Woodward, Soruba Sivamoorthy, Joanne Peverall, Peter Shipman, David Ravine, John Beilby, Julian Ik-Tsen Heng
BACKGROUND: Pallister-Killian syndrome (PKS) is a rare multisystem developmental syndrome usually caused by mosaic tetrasomy of chromosome 12p that is known to be associated with neurological defects. METHODS: We describe two patients with PKS, one of whom has bilateral perisylvian polymicrogyria (PMG), the other with macrocephaly, enlarged lateral ventricles and hypogenesis of the corpus callosum. We have also summarized the current literature describing brain abnormalities in PKS...
December 9, 2017: Molecular Genetics & Genomic Medicine
https://www.readbyqxmd.com/read/29185864/novel-mutation-in-the-human-hprt1-gene-and-the-lesch-nyhan-disease
#2
Khue Vu Nguyen, Robert K Naviaux, William L Nyhan
Lesch-Nyhan disease (LND) is a rare X-linked inherited neurogenetic disorder of purine metabolism in which the enzyme, hypoxanthine-guanine phosphoribosyltransferase (HGprt) is defective. The authors report a novel point mutation that led to HGprt-related neurological dysfunction (HND) in a family in which there was a missense mutation in exon 6 of the coding region of the HPRT1 gene: g.34938G>T, c.403G>T, p.D135Y. Molecular diagnosis is consistent with the genetic heterogeneity of the HPRT1 gene responsible for HGprt deficiency...
November 29, 2017: Nucleosides, Nucleotides & Nucleic Acids
https://www.readbyqxmd.com/read/29171993/prevalence-of-delirium-in-a-population-of%C3%A2-elderly-outpatients-with-dementia-a%C3%A2-retrospective-study
#3
Desirée Addesi, Raffaele Maio, Nicoletta Smirne, Valentina Laganà, Natalia Altomari, Gianfranco Puccio, Rosanna Colao, Chiara Cupidi, Francesco Perticone, Amalia Cecilia Bruni
BACKGROUND: Delirium is a multifactorial geriatric syndrome and often occurs in patients with cognitive impairment. It also remains under-recognized, specifically in elderly outpatients, because signs of delirium might overlap with symptoms of dementia. OBJECTIVE: The aim of the present study is to retrospectively apply the chart-based delirium instrument on a cohort of elderly outpatients with dementia, to assess prevalence and features of delirium in this population...
November 20, 2017: Journal of Alzheimer's Disease: JAD
https://www.readbyqxmd.com/read/29164503/developing-the-field-of-neurogenetics
#4
EDITORIAL
Ulrich Müller, Georg Auburger, Manuel B Graeber, Louis J Ptacek
No abstract text is available yet for this article.
November 21, 2017: Neurogenetics
https://www.readbyqxmd.com/read/29143198/the-effect-of-parental-age-on-nf1-patients-in-turkey
#5
P Sharafi, B Anlar, S Ersoy-Evans, A Varan, O F Yılmaz, M Turan, S Ayter
Neurofibromatosis type 1 (NF1) is the most common neurogenetic disorder worldwide, and its clinical presentations are highly variable. NF1 is caused by mutations in the NF1 gene, and 50% of NF1 cases are sporadic, which occur in the absence of a family history of the disease and usually result from a new mutation in the germline of a parent. Advanced paternal age may increase the risk for germinal NF1 mutations; however, some dominant conditions, including neurofibromatosis, have shown a lesser association with paternal age, although there are conflicting reports in the literature...
November 15, 2017: Journal of Community Genetics
https://www.readbyqxmd.com/read/29141125/elevated-proinflammatory-markers-in-22q11-2-deletion-syndrome-are-associated-with-psychosis-and-cognitive-deficits
#6
Ehud Mekori-Domachevsky, Michal Taler, Yehuda Shoenfeld, Michael Gurevich, Polina Sonis, Omri Weisman, Abraham Weizman, Doron Gothelf
OBJECTIVE: 22q11.2 deletion syndrome (22q11.2DS) is a neurogenetic disorder whose phenotype includes high rates of a schizophrenia-like psychotic disorder and immune system abnormalities. Thus, 22q11.2DS is an ideal model for studying the relationship between psychosis and inflammation. The aim of the present study was to identify inflammatory markers that may play a role in the pathophysiologic pathways associated with psychosis and cognitive deficits in 22q11.2DS. METHODS: Forty-nine individuals with 22q11...
November 14, 2017: Journal of Clinical Psychiatry
https://www.readbyqxmd.com/read/29125005/neurogenetics-in-spain
#7
Alberto Ferrús
No abstract text is available yet for this article.
November 10, 2017: Journal of Neurogenetics
https://www.readbyqxmd.com/read/29109241/optogenetic-activation-of-the-fruitless-labeled-circuitry-in-drosophila-subobscura-males-induces-mating-motor-acts
#8
Ryoya Tanaka, Tomohiro Higuchi, Soh Kohatsu, Kosei Sato, Daisuke Yamamoto
It remains an enigma how the nervous system of different animal species produces different behaviors. We studied the neural circuitry for mating behavior in Drosophila subobscura, a species that displays unique courtship actions not shared by other members of the genera including the genetic model D. melanogaster, in which the core courtship circuitry has been identified. We disrupted the D. subobscurafruitless (fru) gene, a master regulator for the courtship circuitry formation in D. melanogaster, resulting in complete loss of mating behavior...
November 6, 2017: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/29096777/efficacy-and-safety-of-pediatric-prolonged-release-melatonin-for-insomnia-in-children-with-autism-spectrum-disorder
#9
Paul Gringras, Tali Nir, John Breddy, Anat Frydman-Marom, Robert L Findling
OBJECTIVE: To assess the efficacy and safety of novel pediatric-appropriate, prolonged-release melatonin minitablets (PedPRM) versus placebo for insomnia in children and adolescents with autism spectrum disorder (ASD), with or without attention-deficit/hyperactivity disorder (ADHD) comorbidity, and neurogenetic disorders (NGD). METHOD: A total of 125 children and adolescents (2-17.5 years of age; 96.8% ASD, 3.2% Smith-Magenis syndrome [SMS]) whose sleep failed to improve on behavioral intervention alone were randomized (1:1 ratio), double-blind, to receive PedPRM (2 mg escalated to 5 mg) or placebo for 13 weeks...
November 2017: Journal of the American Academy of Child and Adolescent Psychiatry
https://www.readbyqxmd.com/read/29070634/six-legged-walking-in-insects-how-cpgs-peripheral-feedback-and-descending-signals-generate-coordinated-and-adaptive-motor-rhythms
#10
Salil Sanjay Bidaye, Till Bockemühl, Ansgar Büschges
Walking is a rhythmic locomotor behavior of legged animals and its underlying mechanisms have been the subject of neurobiological research for more than 100 years. In this article, we review relevant historical aspects and contemporary studies in this field of research with a particular focus on the role of central pattern generating networks (CPGs) and their role in the generation of the six-legged walking in insects. Aspects of importance are the generation of single leg stepping, the generation of interleg coordination, and how descending signals influence walking...
October 25, 2017: Journal of Neurophysiology
https://www.readbyqxmd.com/read/29057378/systems-biology-in-the-central-nervous-system-a-brief-perspective-on-essential-recent-advancements
#11
Joseph D Dougherty, Chengran Yang, Allison M Lake
As recent advances in human genetics have begun to more rapidly identify the individual genes contributing to risk of psychiatric disease, the spotlight now turns to understanding how disruption of these genes alters the brain, and thus behavior. Compared to other tissues, cellular complexity in the brain provides both a substantial challenge and a significant opportunity for systems biology approaches. Current methods are maturing that will allow for finally defining the 'parts list' for the functioning mouse and human brains, enabling new approaches to defining how the system goes awry in disorders of the CNS...
June 2017: Current Opinion in Systems Biology
https://www.readbyqxmd.com/read/29048724/longitudinal-perspectives-on-the-psychosis-spectrum-in-22q11-2-deletion-syndrome
#12
REVIEW
Sunny X Tang, Raquel E Gur
The prevalence of psychotic disorders in individuals with 22q11.2 Deletion Syndrome (22q11DS) reaches 25-35% in young adulthood and may provide a neurogenetic model for clinical risk of psychotic disorders in the general population. This review focuses on prospective longitudinal studies in 22q11DS, which capture fluctuations in psychosis symptoms over time and may provide insights into potential demographic, clinical, cognitive, and neuroimaging predictors of psychosis-spectrum outcomes in the general population...
October 19, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29031747/sleep-phenotypes-in-infants-and-toddlers-with-neurogenetic-syndromes
#13
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
#14
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
#15
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
#16
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
#17
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
#18
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
#19
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
#20
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
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