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Neuropsychiatric genetics

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https://www.readbyqxmd.com/read/28446873/novel-vps13a-gene-mutations-identified-in-patients-diagnosed-with-chorea-acanthocytosis-chac-case-presentation-and-literature-review
#1
Yan Shen, Xiaoming Liu, Xi Long, Chao Han, Fang Wan, Wenliang Fan, Xingfang Guo, Kai Ma, Shiyi Guo, Luxi Wang, Yun Xia, Ling Liu, Jinsha Huang, Zhicheng Lin, Nian Xiong, Tao Wang
Chorea-acanthocytosis (ChAc) is a rare autosomal recessive inherited syndrome characterized by hyperkinetic movements, seizures, cognitive impairment, neuropsychiatric symptoms, elevated serum biochemical indicators and acanthocytes detection in peripheral blood smear. Vacuolar protein sorting 13A (VPS13A) gene mutations have been proven to be genetically responsible for the pathogenesis of ChAc. Herein, based on the typical clinical symptoms and neuroimaging features, we present two suspected ChAc cases which are further genetically confirmed by four novel VPS13A gene mutations...
2017: Frontiers in Aging Neuroscience
https://www.readbyqxmd.com/read/28443381/pharmacological-management-of-narcolepsy-with-and-without-cataplexy
#2
Ulf Kallweit, Claudio L Bassetti
Introduction Narcolepsy is an orphan neurological disease and presents with sleep- wake, motoric, neuropsychiatric and metabolic symptoms. Narcolepsy with cataplexy is most commonly caused by an immune-mediated process including genetic and environmental factors, resulting in the selective loss of hypocretin-producing neurons. Narcolepsy has a major impact on workableness and quality of life. Areas covered This review provides an overview of the temporal available treatment options for narcolepsy (type 1 and 2) in adults, including authorization status by regulatory agencies...
April 26, 2017: Expert Opinion on Pharmacotherapy
https://www.readbyqxmd.com/read/28443016/genetics-of-aggression-in-alzheimer-s-disease-ad
#3
Walter J Lukiw, Evgeny I Rogaev
Alzheimer's disease (AD) is a terminal, age-related neurological syndrome exhibiting progressive cognitive and memory decline, however AD patients in addition exhibit ancillary neuropsychiatric symptoms (NPSs) and these include aggression. In this communication we provide recent evidence for the mis-regulation of a small family of genes expressed in the human hippocampus that appear to be significantly involved in expression patterns common to both AD and aggression. DNA array- and mRNA transcriptome-based gene expression analysis and candidate gene association and/or genome-wide association studies (CGAS, GWAS) of aggressive attributes in humans have revealed a surprisingly small subset of six brain genes that are also strongly associated with altered gene expression patterns in AD...
2017: Frontiers in Aging Neuroscience
https://www.readbyqxmd.com/read/28434587/aligning-physiology-with-psychology-translational-neuroscience-in-neuropsychiatric-drug-discovery
#4
REVIEW
Robert A McArthur
This review presents an overview of some of the pre-clinical and clinical issues that have contributed to the failures of potential novel neuropsychiatric drugs, which have prompted a re-examination of the role of animal models of neuropsychiatric disorders. Advances both in basic neuroscience and technology have driven the development of animal models of aspects of neuropsychiatric disorders. Genetics and environmental factors have been the primary contributors to the development of new animal models. Neuroimaging has contributed to the search for biomarkers by which neuropsychiatric disorders may be identified and differentiated, its progression monitored and that the effects of therapy assessed...
May 2017: Neuroscience and Biobehavioral Reviews
https://www.readbyqxmd.com/read/28433109/pathogenesis-of-wilson-disease
#5
Ivo Florin Scheiber, Radan Brůha, Petr Dušek
Wilson disease is an autosomal-recessive disorder originating from a genetic defect in the copper-transporting ATPase ATP7B that is required for biliary copper secretion and loading of ceruloplasmin with copper. Impaired ATP7B function in Wilson disease results in excessive accumulation of copper in liver, brain, and other tissues. Toxic copper deposits may induce oxidative stress, modify expression of genes, directly inhibit proteins, and impair mitochondrial function, leading to hepatic, neuropsychiatric, renal, musculoskeletal, and other symptoms...
2017: Handbook of Clinical Neurology
https://www.readbyqxmd.com/read/28433102/the-genetics-of-wilson-disease
#6
Irene J Chang, Si Houn Hahn
Wilson disease (WD) is an autosomal-recessive disorder of hepatocellular copper deposition caused by pathogenic variants in the copper-transporting gene, ATP7B. Early detection and treatment are critical to prevent lifelong neuropsychiatric, hepatic, and systemic disabilities. Due to the marked heterogeneity in age of onset and clinical presentation, the diagnosis of Wilson disease remains challenging to physicians today. Direct sequencing of the ATP7B gene is the most sensitive and widely used confirmatory testing method, and concurrent biochemical testing improves diagnostic accuracy...
2017: Handbook of Clinical Neurology
https://www.readbyqxmd.com/read/28433100/diagnosis-of-wilson-disease
#7
Peter Ferenci
Clinical presentation of Wilson disease can vary widely; therefore diagnosis is not always straightforward. Wilson disease is not just a disease of children and young adults, but may present at any age. The key features of Wilson disease are liver disease and cirrhosis, neuropsychiatric disturbances, Kayser-Fleischer rings, and acute episodes of hemolysis, often in association with acute liver failure. Diagnosis is particularly difficult in children and in adults presenting with active liver disease. None of the available laboratory tests is perfect and may not be specific for Wilson disease...
2017: Handbook of Clinical Neurology
https://www.readbyqxmd.com/read/28419975/animal-models-for-neuropsychiatric-disorders-prospects-for-circuit-intervention
#8
REVIEW
Tobias Kaiser, Yang Zhou, Guoping Feng
Monogenic animal models for psychiatric diseases have enabled researchers to dissect the relationship between certain candidate genes, neural circuit abnormalities, and behavioral phenotypes along development. Early reports of phenotypic reversal after genetic restoration in mouse models sparked hope that genetic defects do not damage circuits irreversibly in early-onset disorders. However, further studies have suggested that only some circuits exhibit this plasticity, while many others require proper gene function during development...
April 15, 2017: Current Opinion in Neurobiology
https://www.readbyqxmd.com/read/28418237/what-gene-mutations-affect-serotonin-in-mice
#9
Richard C Tenpenny, Kathryn G Commons
Although serotonin neurotransmission has been implicated in several neurodevelopmental and psychological disorders, the factors that drive dysfunction of the serotonin system are poorly understood. Current research regarding the serotonin system revolves around its dysfunction in neuropsychiatric disorders, but there is no database collating genetic mutations that result in serotonin abnormalities. To bridge this gap, we developed a list of genes in mice that, when perturbed, result in altered levels of serotonin either in brain or blood...
April 27, 2017: ACS Chemical Neuroscience
https://www.readbyqxmd.com/read/28414966/modeling-sleep-and-neuropsychiatric-disorders-in-zebrafish
#10
REVIEW
Talia Levitas-Djerbi, Lior Appelbaum
What are the molecular and cellular mechanisms that link neurological disorders and sleep disturbances? The transparent zebrafish model could bridge this gap in knowledge due to its unique genetic and imaging toolbox, and amenability to high-throughput screening. Sleep is well-characterized in zebrafish and key regulators of the sleep/wake cycle are conserved, including melatonin and hypocretin/orexin (Hcrt), whereas novel sleep regulating proteins are continually being identified, such as Kcnh4a, Neuromedin U, and QRFP...
April 14, 2017: Current Opinion in Neurobiology
https://www.readbyqxmd.com/read/28411579/self-injury-and-aggression-in-adults-with-tuberous-sclerosis-complex-frequency-associated-person-characteristics-and-implications-for-assessment
#11
Lucy Wilde, Kate Eden, Petrus de Vries, Jo Moss, Alice Welham, Chris Oliver
Even though self-injury and aggression are common in tuberous sclerosis complex (TSC), understanding of these behaviours in adults with TSC and intellectual disability (ID) is limited. Little is known about their frequency in comparison to other ID-related genetic disorders or their association with other TSC-Associated Neuropsychiatric Disorders (TAND). This study determined the caregiver-reported frequency of self-injury and aggression in adults with TSC plus ID in comparison to Down syndrome (DS) and Angelman syndrome (AS), and assessed demographic and behavioural characteristics associated with the occurrence of each behaviour in TSC...
April 12, 2017: Research in Developmental Disabilities
https://www.readbyqxmd.com/read/28411148/behavioural-characterization-of-ankyring-deficient-mice-a-model-for-ank3-related-disorders
#12
I M van der Werf, D Van Dam, S Missault, B Yalcin, P P De Deyn, G Vandeweyer, R F Kooy
ANK3 encodes AnkyrinG (AnkG), a member of the Ankyrin family that is expressed in several different isoforms in many tissues. A unique serine-rich domain and tail domain in the two largest isoforms of AnkG (270 and 480kDa), restrict AnkG to the axon initial segment and nodes of Ranvier of myelinated neurons. At these sites, AnkG is a master regulator, coordinating the strict clustering of components necessary for proper action potential initiation and propagation along the axon. These components include voltage-gated sodium channels, potassium channels and members of the L1 cell adhesion molecule family...
April 11, 2017: Behavioural Brain Research
https://www.readbyqxmd.com/read/28410269/social-isolation-induces-schizophrenia-like-behavior-potentially-associated-with-hint1-nmda-receptor-1-and-dopamine-receptor-2
#13
Bai-Jia Li, Peng Liu, Zheng Chu, Ying Shang, Meng-Xi Huan, Yong-Hui Dang, Cheng-Ge Gao
Both genetic factors and early life adversity play major roles in the etiology of schizophrenia. Our previous studies indicated that social isolation (SI) during early postnatal development leads to several lasting abnormal behavioral and pathophysiological features resembling the core symptoms of some human neuropsychiatric disorders in mice. The glutamate and dopamine hypotheses are tightly linked to the development of schizophrenia. The cross-talk between glutamate N-methyl-D-aspartate acid receptors and dopamine receptors is associated with histidine triad nucleotide binding protein 1 (HINT1), which is correlated with diverse psychiatric disorders...
May 24, 2017: Neuroreport
https://www.readbyqxmd.com/read/28401431/sustained-immunosuppression-alters-olfactory-function-in-the-mrl-model-of-cns-lupus
#14
Minesh Kapadia, Hui Zhao, Donglai Ma, Boris Sakic
Systemic lupus erythematosus (SLE) is a chronic autoimmune disease that is frequently accompanied by diverse neuropsychiatric manifestations. An increased frequency of olfactory deficits has been recently reported as another marker of CNS involvement in SLE patients. Similarly, we observed that spontaneous development of lupus-like disease in MRL/lpr mice is accompanied by altered olfaction-related behaviors. However, it remained unclear whether the behavioral deficits are due to systemic autoimmunity, or the distinct genetic make-up...
April 11, 2017: Journal of Neuroimmune Pharmacology: the Official Journal of the Society on NeuroImmune Pharmacology
https://www.readbyqxmd.com/read/28398340/the-impact-of-common-dopamine-d2-receptor-gene-polymorphisms-on-d2-3-receptor-availability-c957t-as-a-key-determinant-in-putamen-and-ventral-striatum
#15
C T Smith, L C Dang, J W Buckholtz, A M Tetreault, R L Cowan, R M Kessler, D H Zald
Dopamine function is broadly implicated in multiple neuropsychiatric conditions believed to have a genetic basis. Although a few positron emission tomography (PET) studies have investigated the impact of single-nucleotide polymorphisms (SNPs) in the dopamine D2 receptor gene (DRD2) on D2/3 receptor availability (binding potential, BPND), these studies have often been limited by small sample size. Furthermore, the most commonly studied SNP in D2/3 BPND (Taq1A) is not located in the DRD2 gene itself, suggesting that its linkage with other DRD2 SNPs may explain previous PET findings...
April 11, 2017: Translational Psychiatry
https://www.readbyqxmd.com/read/28397838/mapping-autosomal-recessive-intellectual-disability-combined-microarray-and-exome-sequencing-identifies-26-novel-candidate-genes-in-192-consanguineous-families
#16
R Harripaul, N Vasli, A Mikhailov, M A Rafiq, K Mittal, C Windpassinger, T I Sheikh, A Noor, H Mahmood, S Downey, M Johnson, K Vleuten, L Bell, M Ilyas, F S Khan, V Khan, M Moradi, M Ayaz, F Naeem, A Heidari, I Ahmed, S Ghadami, Z Agha, S Zeinali, R Qamar, H Mozhdehipanah, P John, A Mir, M Ansar, L French, M Ayub, J B Vincent
Approximately 1% of the global population is affected by intellectual disability (ID), and the majority receive no molecular diagnosis. Previous studies have indicated high levels of genetic heterogeneity, with estimates of more than 2500 autosomal ID genes, the majority of which are autosomal recessive (AR). Here, we combined microarray genotyping, homozygosity-by-descent (HBD) mapping, copy number variation (CNV) analysis, and whole exome sequencing (WES) to identify disease genes/mutations in 192 multiplex Pakistani and Iranian consanguineous families with non-syndromic ID...
April 11, 2017: Molecular Psychiatry
https://www.readbyqxmd.com/read/28393474/application-of-ipscs-to-understand-neurobiological-basis-of-bipolar-disorder-and-schizophrenia
#17
Yao-Nan Liu, Si-Yao Lu, Jun Yao
The etiology of neuropsychiatric disorders such as schizophrenia and bipolar disorder usually involves complex combinations of genetic defects/variations and environmental impacts, which hindered, for a long time, research efforts based on animal models and patients' non-neuronal cells or postmortem tissues. However, the development of human induced pluripotent stem cell technology by the Yamanaka group was immediately applied to establish cell research models for neuronal disorders. Since then, techniques to achieve highly efficient differentiation of different types of neural cells following iPSC modeling have made much progress...
April 10, 2017: Psychiatry and Clinical Neurosciences
https://www.readbyqxmd.com/read/28391320/evidence-of-a-conserved-molecular-response-to-selection-for-increased-brain-size-in-primates
#18
Amy M Boddy, Peter W Harrison, Stephen H Montgomery, Jason A Caravas, Mary Ann Raghanti, Kimberley A Phillips, Nicholas I Mundy, Derek E Wildman
The adaptive significance of human brain evolution has been frequently studied through comparisons with other primates. However, the evolution of increased brain size is not restricted to the human lineage but is a general characteristic of primate evolution. Whether or not these independent episodes of increased brain size share a common genetic basis is unclear. We sequenced and de novo assembled the transcriptome from the neocortical tissue of the most highly encephalized nonhuman primate, the tufted capuchin monkey (Cebus apella)...
March 1, 2017: Genome Biology and Evolution
https://www.readbyqxmd.com/read/28387242/chemical-labelling-for-visualizing-native-ampa-receptors-in-live-neurons
#19
Sho Wakayama, Shigeki Kiyonaka, Itaru Arai, Wataru Kakegawa, Shinji Matsuda, Keiji Ibata, Yuri L Nemoto, Akihiro Kusumi, Michisuke Yuzaki, Itaru Hamachi
The location and number of neurotransmitter receptors are dynamically regulated at postsynaptic sites. However, currently available methods for visualizing receptor trafficking require the introduction of genetically engineered receptors into neurons, which can disrupt the normal functioning and processing of the original receptor. Here we report a powerful method for visualizing native α-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid (AMPA)-type glutamate receptors (AMPARs) which are essential for cognitive functions without any genetic manipulation...
April 7, 2017: Nature Communications
https://www.readbyqxmd.com/read/28386848/identification-of-de-novo-dnmt3a-mutations-that-cause-west-syndrome-by-using-whole-exome-sequencing
#20
Zhenwei Liu, Zhongshan Li, Xiao Zhi, Yaoqiang Du, Zhongdong Lin, Jinyu Wu
Epileptic encephalopathies (EEs) are a group of severe neurodevelopmental disorders with extreme genetic heterogeneity. Recent trio-based whole-exome sequencing (WES) studies have demonstrated that de novo mutations (DNMs) play prominent roles in severe EE. In this study, we searched for potential causal DNMs by using high-coverage WES of four unrelated Chinese parent-offspring trios affected by West syndrome. Through extensive bioinformatic analysis, we identified three novel DNMs in DNMT3A, CDKL5, and MAMDC2 in three trios and two compound heterozygous mutations in KMT2A in one trio...
April 6, 2017: Molecular Neurobiology
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