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Neuropsychiatric genetics

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https://www.readbyqxmd.com/read/28924877/diagnostic-approach-to-neurotransmitter-monoamine-disorders-experience-from-clinical-biochemical-and-genetic-profiles
#1
Alice Kuster, Jean-Baptiste Arnoux, Magalie Barth, Delphine Lamireau, Nada Houcinat, Cyril Goizet, Bérénice Doray, Stéphanie Gobin, Manuel Schiff, Aline Cano, Daniel Amsallem, Christine Barnerias, Boris Chaumette, Marion Plaze, Abdelhamid Slama, Christine Ioos, Isabelle Desguerre, Anne-Sophie Lebre, Pascale de Lonlay, Laurence Christa
BACKGROUND AND AIM: To improve the diagnostic work-up of patients with diverse neurological diseases, we have elaborated specific clinical and CSF neurotransmitter patterns. METHODS: Neurotransmitter determinations in CSF from 1200 patients revealed abnormal values in 228 (19%) cases. In 54/228 (24%) patients, a final diagnosis was identified. RESULTS: We have reported primary (30/54, 56%) and secondary (24/54, 44%) monoamine neurotransmitter disorders...
September 18, 2017: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/28921675/altered-cav1-2-function-in-the-timothy-syndrome-mouse-model-produces-ascending-serotonergic-abnormalities
#2
Daniel G Ehlinger, Kathryn G Commons
Polymorphism in the gene CACNA1C, encoding the pore-forming subunit of Cav1.2 L-type calcium channels, has one of the strongest genetic linkages to schizophrenia, bipolar disorder, and major depressive disorder: psychopathologies in which serotonin signaling has been implicated. Additionally, a gain-of-function mutation in CACNA1C is responsible for the neurodevelopmental disorder Timothy Syndrome that presents with prominent behavioral features on the autism spectrum. Given an emerging role for serotonin in the etiology of autism spectrum disorders, we investigate the relationship between Cav1...
September 16, 2017: European Journal of Neuroscience
https://www.readbyqxmd.com/read/28916820/accumulation-of-minor-alleles-and-risk-prediction-in-schizophrenia
#3
Pei He, Xiaoyun Lei, Dejian Yuan, Zuobin Zhu, Shi Huang
Schizophrenia is a common neuropsychiatric disorder with a lifetime risk of 1%. Accumulation of common polygenic variations has been found to be an important risk factor. Recent studies showed a role for the enrichment of minor alleles (MAs) of SNPs in complex diseases such as Parkinson's disease. Here we similarly studied the role of genome wide MAs in schizophrenia using public datasets. Relative to matched controls, schizophrenia cases showed higher average values in minor allele content (MAC) or the average amount of MAs per subject...
September 15, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28916270/understanding-taurine-cns-activity-using-alternative-zebrafish-models
#4
REVIEW
Nathana J Mezzomo, Barbara D Fontana, Allan V Kalueff, Leonardo J G Barcellos, Denis B Rosemberg
Taurine is a highly abundant "amino acid" in the brain. Despite the potential neuroactive role of taurine in vertebrates has long been recognized, the underlying molecular mechanisms related to its pleiotropic effects in the brain remain poorly understood. Due to the genetic tractability, rich behavioral repertoire, neurochemical conservation, and small size, the zebrafish (Danio rerio) has emerged as a powerful candidate for neuropsychopharmacology investigation and in vivo drug screening. Here, we summarize the main physiological roles of taurine in mammals, including neuromodulation, osmoregulation, membrane stabilization, and antioxidant action...
September 12, 2017: Neuroscience and Biobehavioral Reviews
https://www.readbyqxmd.com/read/28894297/the-pnkd-gene-is-associated-with-tourette-disorder-or-tic-disorder-in-a-multiplex-family
#5
N Sun, C Nasello, L Deng, N Wang, Y Zhang, Z Xu, Z Song, K Kwan, R A King, Z P Pang, J Xing, G A Heiman, J A Tischfield
Tourette Disorder (TD) is a childhood-onset neuropsychiatric and neurodevelopmental disorder characterized by the presence of both motor and vocal tics. The genetic architecture of TD is believed to be complex and heterogeneous. Nevertheless, DNA sequence variants co-segregating with TD phenotypes within multiplex families have been identified. This report examines whole exomes of affected and unaffected individuals in a multiplex TD family to discover genes involved in the TD etiology. We performed whole exome sequencing on six out of nine members in a three-generation TD multiplex family...
September 12, 2017: Molecular Psychiatry
https://www.readbyqxmd.com/read/28890845/comorbidities-of-atopic-dermatitis-beyond-rhinitis-and-asthma
#6
REVIEW
Yuki M F Andersen, Alexander Egeberg, Lone Skov, Jacob P Thyssen
PURPOSE OF REVIEW: In this review article, we summarize the current evidence about atopic dermatitis (AD)-associated comorbidities, beyond the traditional atopic and allergic conditions. RECENT FINDINGS: Patients with AD may have an increased risk of cardiovascular diseases, certain malignancies, autoimmune diseases, and neuropsychiatric diseases. The causes of these associations are likely multifactorial and may include genetic predispositions, systemic low-grade inflammation, environmental exposures, medication, and lifestyle and behavioral risk factors...
2017: Current Dermatology Reports
https://www.readbyqxmd.com/read/28888969/mtor-related-neuropathology-in-mutant-tsc2-zebrafish-phenotypic-transcriptomic-and-pharmacological-analysis
#7
Chloë Scheldeman, James D Mills, Aleksandra Siekierska, Ines Serra, Daniëlle Copmans, Anand M Iyer, Benjamin J Whalley, Jan Maes, Anna C Jansen, Lieven Lagae, Eleonora Aronica, Peter A M de Witte
Tuberous sclerosis complex (TSC) is a rare, genetic disease caused by loss-of-function mutations in either TSC1 or TSC2. Patients with TSC are neurologically characterized by the presence of abnormal brain structure, intractable epilepsy and TSC-associated neuropsychiatric disorders. Given the lack of effective long-term treatments for TSC, there is a need to gain greater insight into TSC-related pathophysiology and to identify and develop new treatments. In this work we show that homozygous tsc2(-/-) mutant zebrafish larvae, but not tsc2(+/-) and WT larvae, display enlarged brains, reduced locomotor behavior and epileptiform discharges at 7dpf...
September 6, 2017: Neurobiology of Disease
https://www.readbyqxmd.com/read/28883405/modeling-a-linkage-between-blood-transcriptional-expression-and-activity-in-brain-regions-to-infer-the-phenotype-of-schizophrenia-patients
#8
El Chérif Ibrahim, Vincent Guillemot, Magali Comte, Arthur Tenenhaus, Xavier Yves Zendjidjian, Aida Cancel, Raoul Belzeaux, Florence Sauvanaud, Olivier Blin, Vincent Frouin, Eric Fakra
Hundreds of genetic loci participate to schizophrenia liability. It is also known that impaired cerebral connectivity is directly related to the cognitive and affective disturbances in schizophrenia. How genetic susceptibility and brain neural networks interact to specify a pathological phenotype in schizophrenia remains elusive. Imaging genetics, highlighting brain variations, has proven effective to establish links between vulnerability loci and associated clinical traits. As previous imaging genetics works in schizophrenia have essentially focused on structural DNA variants, these findings could be blurred by epigenetic mechanisms taking place during gene expression...
September 7, 2017: NPJ Schizophrenia
https://www.readbyqxmd.com/read/28878696/-i-am-i-and-my-bacterial-circumstances-linking-gut-microbiome-neurodevelopment-and-depression
#9
REVIEW
Juan M Lima-Ojeda, Rainer Rupprecht, Thomas C Baghai
Recently, there has been renewed interest in the role played by microbiome in both human health and human disease. A correct equilibrium between the human host and their microorganisms is important for an appropriate physiological function. Extensive research has shown that microbes that inhabit the gastrointestinal tract-or gut microbiota-are involved not only in both nutritive and digestive activities but also in immunological processes. Moreover, the gut microbiome influences both central nervous system and energy homeostasis...
2017: Frontiers in Psychiatry
https://www.readbyqxmd.com/read/28877969/overdominant-effect-of-a-chrna4-polymorphism-on-cingulo-opercular-network-activity-and-cognitive-control
#10
Sepideh Sadaghiani, Bernard Ng, Andre Altmann, Jean-Baptiste Poline, Tobias Banaschewski, Arun L W Bokde, Uli Bromberg, Christian Büchel, Erin Burke Quinlan, Patricia Conrod, Sylvane Desrivières, Herta Flor, Vincent Frouin, Hugh Garavan, Penny Gowland, Jürgen Gallinat, Andreas Heinz, Bernd Ittermann, Jean-Luc Martinot, Marie-Laure Paillère Martinot, Hervé Lemaitre, Frauke Nees, Dimitri Papadopoulos Orfanos, Tomáš Paus, Luise Poustka, Sabina Millenet, Juliane H Fröhner, Michael N Smolka, Henrik Walter, Robert Whelan, Gunter Schumann, Valerio Napolioni, Michael Greicius
The nicotinic system plays an important role in cognitive control, and is implicated in several neuropsychiatric conditions. Yet, the contributions of genetic variability in this system to individuals' cognitive control abilities are poorly understood, and the brain processes that mediate such genetic contributions remain largely unidentified. In this first large-scale neuroimaging genetics study of the human nicotinic receptor system (two cohorts, males and females, fMRI total N=1586, behavioral total N=3650), we investigated a common polymorphism of the high-affinity nicotinic receptor α4β2 (rs1044396 on the CHRNA4 gene) previously implicated in behavioral and nicotine-related studies (albeit with inconsistent major/minor allele impacts)...
September 6, 2017: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/28877513/predicting-functional-neuroanatomical-maps-from-fusing-brain-networks-with-genetic-information
#11
REVIEW
Florian Ganglberger, Joanna Kaczanowska, Josef M Penninger, Andreas Hess, Katja Bühler, Wulf Haubensak
Functional neuroanatomical maps provide a mesoscale reference framework for studies from molecular to systems neuroscience and psychiatry. The underlying structure-function relationships are typically derived from functional manipulations or imaging approaches. Although highly informative, these are experimentally costly. The increasing amount of publicly available brain and genetic data offers a rich source that could be mined to address this problem computationally. Here, we developed an algorithm that fuses gene expression and connectivity data with functional genetic meta data and exploits cumulative effects to derive neuroanatomical maps related to multi-genic functions...
September 3, 2017: NeuroImage
https://www.readbyqxmd.com/read/28863320/ntrk2-trkb-gene-variants-and-temporal-lobe-epilepsy-a-genetic-association-study
#12
Carolina Machado Torres, Marina Siebert, Hugo Bock, Suelen Mandelli Mota, Bárbara Reis Krammer, Juliana Ávila Duarte, José Augusto Bragatti, Juliana Unis Castan, Luiza Amaral de Castro, Maria Luiza Saraiva-Pereira, Marino Muxfeldt Bianchin
OBJECTIVE: The NTRK2 gene encodes a member of the neurotrophic tyrosine kinase receptor family known as TrkB. It is a membrane-associated receptor with signaling and cellular differentiation properties that has been involved in neuropsychiatric disorders, including epilepsy. We report here the frequencies of NTRK2 allele variants in patients with temporal lobe epilepsy (TLE) compared to controls without epilepsy and explore the impact of these polymorphisms on major clinical variables in TLE...
August 25, 2017: Epilepsy Research
https://www.readbyqxmd.com/read/28862395/phelan-mcdermid-syndrome-data-network-integrating-patient-reported-outcomes-with-clinical-notes-and-curated-genetic-reports
#13
Cartik Kothari, Maxime Wack, Claire Hassen-Khodja, Sean Finan, Guergana Savova, Megan O'Boyle, Geraldine Bliss, Andria Cornell, Elizabeth J Horn, Rebecca Davis, Jacquelyn Jacobs, Isaac Kohane, Paul Avillach
The heterogeneity of patient phenotype data are an impediment to the research into the origins and progression of neuropsychiatric disorders. This difficulty is compounded in the case of rare disorders such as Phelan-McDermid Syndrome (PMS) by the paucity of patient clinical data. PMS is a rare syndromic genetic cause of autism and intellectual deficiency. In this paper, we describe the Phelan-McDermid Syndrome Data Network (PMS_DN), a platform that facilitates research into phenotype-genotype correlation and progression of PMS by: a) integrating knowledge of patient phenotypes extracted from Patient Reported Outcomes (PRO) data and clinical notes-two heterogeneous, underutilized sources of knowledge about patient phenotypes-with curated genetic information from the same patient cohort and b) making this integrated knowledge, along with a suite of statistical tools, available free of charge to authorized investigators on a Web portal https://pmsdn...
September 1, 2017: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
https://www.readbyqxmd.com/read/28860780/association-between-comt-val158met-and-dat1-polymorphisms-and-depressive-symptoms-in-the-obese-population
#14
Maciej Bieliński, Marcin Jaracz, Natalia Lesiewska, Marta Tomaszewska, Marcin Sikora, Roman Junik, Anna Kamińska, Andrzej Tretyn, Alina Borkowska
OBJECTIVES: Depressive symptoms are common among patients with obesity. Abnormalities in dopamine signaling involved in the reward circuit may ensue excessive consumption of food, resulting in obesity and leading to neuropsychiatric disorders such as depression. This study sought to investigate the association of polymorphisms in the genes encoding DAT1/SLC6A3 and COMT with the intensity of depressive symptoms in obese subjects. PARTICIPANTS AND METHODS: Prevalence and severity of depressive symptoms were assessed in a group of 364 obese patients using the Beck Depression Inventory (BDI) and the Hamilton Depression Rating Scale (HDRS)...
2017: Neuropsychiatric Disease and Treatment
https://www.readbyqxmd.com/read/28856816/analysis-and-functional-characterization-of-sequence-variations-in-ligand-binding-domain-of-thyroid-hormone-receptors-in-autism-spectrum-disorder-asd-patients
#15
Mahesh Kumar Kalikiri, Madhu Poornima Mamidala, Ananth N Rao, Vidya Rajesh
Autism spectrum disorder (ASD) is a neuro developmental disorder, reported to be on a rise in the past two decades. Thyroid hormone-T3 plays an important role in early embryonic and central nervous system development. T3 mediates its function by binding to thyroid hormone receptors, TRα and TRβ. Alterations in T3 levels and thyroid receptor mutations have been earlier implicated in neuropsychiatric disorders and have been linked to environmental toxins. Limited reports from earlier studies have shown the effectiveness of T3 treatment with promising results in children with ASD and that the thyroid hormone levels in these children was also normal...
August 30, 2017: Autism Research: Official Journal of the International Society for Autism Research
https://www.readbyqxmd.com/read/28846756/prevalence-of-pathogenic-copy-number-variation-in-adults-with-pediatric-onset-epilepsy-and-intellectual-disability
#16
Felippe Borlot, Brigid M Regan, Anne S Bassett, D James Stavropoulos, Danielle M Andrade
Importance: Copy number variation (CNV) is an important cause of neuropsychiatric disorders. Little is known about the role of CNV in adults with epilepsy and intellectual disability. Objectives: To evaluate the prevalence of pathogenic CNVs and identify possible candidate CNVs and genes in patients with epilepsy and intellectual disability. Design, Setting, and Participants: In this cross-sectional study, genome-wide microarray was used to evaluate a cohort of 143 adults with unexplained childhood-onset epilepsy and intellectual disability who were recruited from the Toronto Western Hospital epilepsy outpatient clinic from January 1, 2012, through December 31, 2014...
August 28, 2017: JAMA Neurology
https://www.readbyqxmd.com/read/28841651/functional-significance-of-rare-neuroligin-1-variants-found-in-autism
#17
Moe Nakanishi, Jun Nomura, Xiao Ji, Kota Tamada, Takashi Arai, Eiki Takahashi, Maja Bućan, Toru Takumi
Genetic mutations contribute to the etiology of autism spectrum disorder (ASD), a common, heterogeneous neurodevelopmental disorder characterized by impairments in social interaction, communication, and repetitive and restricted patterns of behavior. Since neuroligin3 (NLGN3), a cell adhesion molecule at the neuronal synapse, was first identified as a risk gene for ASD, several additional variants in NLGN3 and NLGN4 were found in ASD patients. Moreover, synaptopathies are now known to cause several neuropsychiatric disorders including ASD...
August 2017: PLoS Genetics
https://www.readbyqxmd.com/read/28830823/lack-of-association-between-slc5a7-polymorphisms-and-tourette-syndrome-in-a-chinese-han-population
#18
Wenmiao Liu, Shiyan Qiu, Chuanping Gao, Guiju Wang, Shiguo Liu, Hongzai Guan
Although Tourette syndrome (TS) is a chronic neuropsychiatric disorder whose pathogenesis remains unclear, genetic factors play an important role in the occurrence and development. A variety of studies have been shown that the candidate genes related to cholinergic neurons may be associated with the onset of TS. To investigate the association between the SLC5A7 polymorphisms and Tourette syndrome (TS) in the Chinese Han population, the SNP rs1013940, rs2433718, and rs4676169 were genotyped in 401 TS trios and 400 controls...
August 19, 2017: Neuroscience Letters
https://www.readbyqxmd.com/read/28827040/effect-of-sleep-patterns-on-levetiracetam-induced-mood-changes
#19
Randip Taneja, Krystal Hunter, Evren Burakgazi-Dalkilic, Melissa Carran
A common side effect of levetiracetam is the onset of neuropsychiatric symptoms such as mood changes including depression, anxiety, agitation, and sometimes psychosis. We performed a retrospective analysis to examine the effect of sleep pattern and chronotype on individual susceptibility to levetiracetam-induced mood changes. We reviewed records of 110 adults with epilepsy presenting to our clinic during a 3-month period, and categorized them into those currently on levetiracetam, and those no longer taking it because of mood-related adverse effects...
August 18, 2017: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/28821923/ankg-hemizygous-mice-present-cognitive-impairment-and-elevated-anxiety-depressive-like-traits-associated-with-decreased-expression-of-gaba-receptors-and-postsynaptic-density-protein
#20
Cui Liu, Ling Zhang, Jie Wu, Xiaolong Sui, Yanfeng Xu, Lan Huang, Yunlin Han, Hua Zhu, Yanhong Li, Xiuping Sun, Chuan Qin
Recent genome-wide association studies (GWAS) of patient populations and genetic linkage assessments have demonstrated that the ankyrin-G (AnkG) gene is involved in neuropsychiatric disorders, including bipolar disorder, schizophrenia, and Alzheimer's disease, but it remains unclear how the genetic variants of AnkG contribute to neuropsychiatric disorders. Here, we generated AnkG hemizygous mice using the gene trapping approach. Homozygous AnkG was embryonically lethal. Western blotting and real-time polymerase chain reaction (qPCR) assessments of wild type (WT) and AnkG (+/-) mutant mice demonstrated a 50% reduction of ANKG levels, at the gene and protein levels, in AnkG hemizygous mice...
August 18, 2017: Experimental Brain Research. Experimentelle Hirnforschung. Expérimentation Cérébrale
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