keyword
MENU ▼
Read by QxMD icon Read
search

Neuropsychiatric genetics

keyword
https://www.readbyqxmd.com/read/28548708/glucocerebrosidase-mutations-and-neuropsychiatric-phenotypes-in-parkinson-s-disease-and-lewy-body-dementias-review-and-meta-analyses
#1
REVIEW
Byron Creese, Emily Bell, Iskandar Johar, Paul Francis, Clive Ballard, Dag Aarsland
Heterozygous mutations in glucocerebrosidase gene (GBA) are a major genetic risk factor for Parkinson's disease (PD) and dementia with Lewy bodies (DLB). Recently, there has been a considerable focus on the relationship between GBA mutations and emergence of cognitive impairment and neuropsychiatric symptoms in these diseases. Here, we review the literature in this area, with a particular focus, including meta-analysis, on the key neuropsychiatric symptoms of cognitive impairment, psychosis, and depression in Parkinson's disease...
May 26, 2017: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
https://www.readbyqxmd.com/read/28542792/on-the-complexity-of-clinical-and-molecular-bases-of-neurodegeneration-with-brain-iron-accumulation
#2
REVIEW
Cristina Tello, Alejandra Darling, Vincenzo Lupo, Belén Pérez-Dueñas, Carmen Espinós
Neurodegeneration with brain iron accumulation (NBIA) are a group of inherited heterogeneous neurodegenerative rare disorders. These patients present with dystonia, spasticity, parkinsonism and neuropsychiatric disturbances, along with brain MRI evidence of iron accumulation. In sum, they are devastating disorders and to date, there is no specific treatment. Ten NBIA genes are accepted: PANK2, PLA2G6, C19orf12, COASY, FA2H, ATP13A2, WDR45, FTL, CP, and DCAF17, and. Nonetheless, a relevant percentage of patients remain without genetic diagnosis, suggesting that other novel NBIA genes remain to be discovered...
May 23, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28536274/mapping-22q11-2-gene-dosage-effects-on-brain-morphometry
#3
Amy Lin, Christopher R K Ching, Ariana Vajdi, Daqiang Sun, Rachel K Jonas, Maria Jalbrzikowski, Leila Kushan-Wells, Laura Pacheco Hansen, Emma Krikorian, Boris Gutman, Deepika Dokoru, Gerhard Helleman, Paul M Thompson, Carrie E Bearden
Reciprocal chromosomal rearrangements at the 22q11.2 locus are associated with elevated risk of neurodevelopmental disorders. The 22q11.2 deletion confers the highest known genetic risk for schizophrenia, but a duplication in the same region is strongly associated with autism and is less common in schizophrenia cases than in the general population. Here we conducted the first study of 22q11.2 gene dosage effects on brain structure in a sample of 143 human subjects: 66 with 22q11.2 deletions (22q-del; 32 males), 21 with 22q11...
May 23, 2017: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/28531893/association-study-of-serotonin-3-receptor-subunit-gene-variants-in-antipsychotic-induced-weight-gain
#4
Clement C Zai, Arun K Tiwari, Nabilah I Chowdhury, Eva J Brandl, Sajid A Shaikh, Natalie Freeman, Jeffrey A Lieberman, Herbert Y Meltzer, James L Kennedy, Daniel J Müller
BACKGROUND: Schizophrenia (SCZ) is a chronic severe neuropsychiatric disorder, where pharmacological treatment has been hindered by adverse effects, including antipsychotic-induced weight gain (AIWG) and related complications. Genetic studies have been exploring the appetite regulation and energy homeostasis pathways in AIWG with some promising leads. The serotonin system has been shown to participate in these pathways. METHODS: In the current study, we examined single nucleotide polymorphisms across the serotonin receptor genes HTR3A and HTR3B...
May 23, 2017: Neuropsychobiology
https://www.readbyqxmd.com/read/28528196/a-review-of-psychiatric-co-morbidity-described-in-genetic-and-immune-mediated-movement-disorders
#5
REVIEW
K J Peall, M S Lorentzos, I Heyman, M A J Tijssen, M J Owen, R C Dale, M A Kurian
Psychiatric symptoms are an increasingly recognised feature of movement disorders. Recent identification of causative genes and autoantibodies has allowed detailed analysis of aetiologically homogenous subgroups, thereby enabling determination of the spectrum of psychiatric symptoms in these disorders. This review evaluates the incidence and type of psychiatric symptoms encountered in patients with movement disorders. A broad spectrum of psychiatric symptoms was identified across all subtypes of movement disorder, with depression, generalised anxiety disorder and obsessive-compulsive disorder being most common...
May 17, 2017: Neuroscience and Biobehavioral Reviews
https://www.readbyqxmd.com/read/28522735/d3-receptors-regulate-excitability-in-a-unique-class-of-prefrontal-pyramidal-cell
#6
Rebecca L Clarkson, Alayna T Liptak, Steven M Gee, Vikaas S Sohal, Kevin J Bender
The D3 dopamine receptor, a member of the Gi-coupled D2-family of dopamine receptors, is expressed throughout limbic circuits affected in neuropsychiatric disorders, including prefrontal cortex. These receptors are important for prefrontal executive function, as pharmacological and genetic manipulations that affect prefrontal D3 receptors alter anxiety, social interaction, and reversal learning. And yet, the mechanisms by which D3 receptors regulate prefrontal circuits, and whether D3 receptors regulate specific prefrontal subnetworks, remain unknown...
May 17, 2017: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/28511257/characterizing-cognitive-impairment-in-parkinson-s-disease
#7
Meagan Bailey, Jennifer G Goldman
Cognitive impairment is a frequent complication in Parkinson's disease (PD), though it can be heterogeneous in its presentation and progression. Cognitive deficits vary among patients with regard to clinical features, severity, and progression to dementia. A growing recognition of cognitive impairment in PD in both the clinical and research settings has led to advances in diagnostic criteria and improved understanding of the clinical phenotypes, associated biomarkers, and underlying pathophysiology of both PD dementia and PD mild cognitive impairment...
April 2017: Seminars in Neurology
https://www.readbyqxmd.com/read/28507923/phenotypes-and-chronic-organ-damage-may-be-different-among-siblings-with-wilson-s-disease
#8
Shinsuke Yahata, Seitetsu Yung, Mari Mandai, Takakazu Nagahara, Daisaku Kuzume, Hiroshi Sakaeda, Shinya Wakusawa, Ayako Kato, Yasuaki Tatsumi, Koichi Kato, Hisao Hayashi, Ryohei Isaji, Yoji Sasaki, Motoyoshi Yano, Kazuhiko Hayashi, Masatoshi Ishigami, Hidemi Goto
Background and Aims: Cloning of ATP7B provided evidence that Wilson's disease is a hepatic copper toxicosis with a variety of extrahepatic complications. Affected siblings with the same genetic background and exposure to similar environmental factors may be a good model for the study of genotype-phenotype correlation. Methods: Twenty-three affected siblings in 11 families were selected from a database. The first phenotypes were determined according to the international proposal. The final types of chronic organ damage were re-evaluated for life-long management...
March 28, 2017: Journal of Clinical and Translational Hepatology
https://www.readbyqxmd.com/read/28506622/meta-analyses-of-reln-variants-in-neuropsychiatric-disorders
#9
Na Chen, Yanping Bao, Yanxue Xue, Yan Sun, Die Hu, Shiqiu Meng, Lin Lu, Jie Shi
Reelin is a critical extracellular matrix glycoprotein and implicated in neurodevelopment and psychiatric disorders in animal model studies. The genetic polymorphism of RELN has also been reported to be associated with several psychiatric disorders, but the results remain controversial. Here, we conducted meta-analyses of RELN gene SNPs and related neuropsychiatric disorders (schizophrenia, autistic spectrum disorders, attention-deficit hyperactivity disorder, Alzheimer's disease and bipolar disorders). A total of 12 SNPs (rs736707, rs362691, rs607755, rs2229864, rs7341475, rs262355, rs362719, rs11496125, g...
May 12, 2017: Behavioural Brain Research
https://www.readbyqxmd.com/read/28506440/the-wistar-audiogenic-rat-war-strain-and-its-contributions-to-epileptology-and-related-comorbidities-history-and-perspectives
#10
Norberto Garcia-Cairasco, Eduardo H L Umeoka, José A Cortes de Oliveira
In the context of modeling epilepsy and neuropsychiatric comorbidities, we review the Wistar Audiogenic Rat (WAR), first introduced to the neuroscience international community more than 25years ago. The WAR strain is a genetically selected reflex model susceptible to audiogenic seizures (AS), acutely mimicking brainstem-dependent tonic-clonic seizures and chronically (by audiogenic kindling), temporal lobe epilepsy (TLE). Seminal neuroethological, electrophysiological, cellular, and molecular protocols support the WAR strain as a suitable and reliable animal model to study the complexity and emergent functions typical of epileptogenic networks...
May 11, 2017: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/28500650/aberrant-cognitive-phenotypes-and-altered-hippocampal-bdnf-expression-related-to-epigenetic-modifications-in-mice-lacking-the-post-synaptic-scaffolding-protein-shank1-implications-for-autism-spectrum-disorder
#11
A Özge Sungur, Magdalena C E Jochner, Hani Harb, Ayşe Kılıç, Holger Garn, Rainer K W Schwarting, Markus Wöhr
Autism spectrum disorder (ASD) is a class of neurodevelopmental disorders characterized by persistent deficits in social communication/interaction, together with restricted/repetitive patterns of behavior. ASD is among the most heritable neuropsychiatric conditions, and while available evidence points to a complex set of genetic factors, the SHANK gene family has emerged as one of the most promising candidates. Here, we assessed ASD-related phenotypes with particular emphasis on social behavior and cognition in Shank1 mouse mutants in comparison to heterozygous and wildtype littermate controls across development in both sexes...
May 12, 2017: Hippocampus
https://www.readbyqxmd.com/read/28499489/neuronal-pas-domain-proteins-1-and-3-are-master-regulators-of-neuropsychiatric-risk-genes
#12
Jacob J Michaelson, Min-Kyoo Shin, Jin-Young Koh, Leo Brueggeman, Angela Zhang, Aaron Katzman, Latisha McDaniel, Mimi Fang, Miles Pufall, Andrew A Pieper
BACKGROUND: NPAS3 has been established as a robust genetic risk factor in major mental illness. In mice, loss of neuronal PAS domain protein 3 (NPAS3) impairs postnatal hippocampal neurogenesis, while loss of the related protein NPAS1 promotes it. These and other findings suggest a critical role for NPAS proteins in neuropsychiatric functioning, prompting interest in the molecular pathways under their control. METHODS: We used RNA sequencing coupled with chromatin immunoprecipitation sequencing to identify genes directly regulated by NPAS1 and NPAS3 in the hippocampus of wild-type, Npas1(-/-), and Npas3(-/-) mice...
April 6, 2017: Biological Psychiatry
https://www.readbyqxmd.com/read/28497736/-implication-of-human-endogenous-retroviruses-in-schizophrenia-and-bipolar-disorder
#13
Pierre Ellul, Laurent Groc, Marion Leboyer
Schizophrenia and bipolar disorder are neuropsychiatric disorders of unknown origin. It seems that these two disorders share some common etiopathogenic mechanisms including genetic, environmental and inflammatory ones. Reactivation of the human endogenous retrovirus type W (HERV-W) can be a shared element in the pathophysiology of schizophrenia and bipolar disorder, linked to immuno-genetic and environment risk factors. We will present studies that have highlighted the presence of HERV-W in schizophrenic and bipolar disorder patients...
April 2017: Médecine Sciences: M/S
https://www.readbyqxmd.com/read/28494862/asynchronous-cholinergic-drive-correlates-with-excitation-inhibition-imbalance-via-a-neuronal-ca-2-sensor-protein
#14
Keming Zhou, Salvatore J Cherra, Alexandr Goncharov, Yishi Jin
Excitation-inhibition imbalance in neural networks is widely linked to neurological and neuropsychiatric disorders. However, how genetic factors alter neuronal activity, leading to excitation-inhibition imbalance, remains unclear. Here, using the C. elegans locomotor circuit, we examine how altering neuronal activity for varying time periods affects synaptic release pattern and animal behavior. We show that while short-duration activation of excitatory cholinergic neurons elicits a reversible enhancement of presynaptic strength, persistent activation results to asynchronous and reduced cholinergic drive, inducing imbalance between endogenous excitation and inhibition...
May 9, 2017: Cell Reports
https://www.readbyqxmd.com/read/28493018/emerging-role-of-mirna-in-attention-deficit-hyperactivity-disorder-a-systematic-review
#15
REVIEW
Saurabh Srivastav, Susanne Walitza, Edna Grünblatt
Attention deficit hyperactivity disorder (ADHD) is a neuropsychiatric disorder whose aetiology still remains elusive. Nevertheless, evidence supports a high genetic contribution that interacts with environmental factors, also known to modulate epigenetic processes. These epigenetic modulators are a class of non-coding RNAs, microRNAs (miRNAs), known as post-transcriptional regulators, which have emerged as prospective players in neuropsychiatric disorders since they play a role in brain development, synapse formation, and the fine-tuning of genes underlying synaptic and memory formation...
May 10, 2017: Attention Deficit and Hyperactivity Disorders
https://www.readbyqxmd.com/read/28488759/association-between-t102c-5-ht2a-receptor-gene-polymorphism-and-5-year-mortality-risk-among-brazilian-amazon-riparian-elderly-population
#16
Tális O Silva, Ivo Jung, Alexis Trott, Cláudia G Bica, Jeferson N Casarin, Paola C Fortuna, Euler E Ribeiro, Fernanda D de Assis, Guilherme C Figueira, Fernanda Barbisan, Maria Fernanda Manica-Cattani, Beatriz S R Bonadiman, Lucien J Houenou, Pedro Antônio S do Prado-Lima, Ivana B M da Cruz
OBJECTIVE: Serotonin (5-HT) is a pleiotropic molecule that exerts several functions on brain and peripheral tissues via different receptors. The gene for the 5-HT2A receptor shows some variations, including a T102C polymorphism, that have been associated with increased risk of neuropsychiatric and vascular disorders. However, the potential impact of 5-HT2A imbalance caused by genetic variations on the human lifespan has not yet been established. METHODS: We performed a prospective study involving an Amazon riparian elderly free-living population in Maués City, Brazil, with a 5-year follow-up...
May 10, 2017: American Journal of Human Biology: the Official Journal of the Human Biology Council
https://www.readbyqxmd.com/read/28479808/chiari-i-malformation-associated-with-turner-syndrome
#17
Kamble Jayaprakash Harsha, Jeevan S Nair
Turner syndrome (TS) is a rare genetic disease due to the absence of one X chromosome. Patients with TS have more subtle neurological/neuropsychiatric problems, while headache is an uncommon clinical presentation which needs attention. We report a 12-year-old child presenting with typical cough headache. Her magnetic resonance imaging revealed Chiari I malformation associated with TS. To the best of our knowledge, Chiari I malformation associated with TS is not described in literature. We report the first case of TS associated with Chiari I malformation...
April 2017: Journal of Neurosciences in Rural Practice
https://www.readbyqxmd.com/read/28476642/properties-of-the-corticostriatal-long-term-depression-induced-by-medial-prefrontal-cortex-high-frequency-stimulation-in%C3%A2-vivo
#18
Barbara Y Braz, Juan E Belforte, M Gustavo Murer, Gregorio L Galiñanes
Repetitive stimulation of cognitive forebrain circuits at frequencies capable of inducing corticostriatal long term plasticity is increasingly being used with therapeutic purposes in patients with neuropsychiatric disorders. However, corticostriatal plasticity is rarely studied in the intact brain. Our aim was to study the mechanisms of corticostriatal long term depression (LTD) induced by high frequency stimulation (HFS) of the medial prefrontal cortex in vivo. Our main finding is that the LTD induced in the dorsomedial striatum by medial prefrontal cortex HFS in vivo (prefrontostriatal LTD) is not affected by manipulations that block or reduce the LTD induced in the dorsolateral striatum by motor cortex HFS in brain slices, including pharmacological dopamine receptor and CB1 receptor blockade, chronic nigrostriatal dopamine depletion, CB1 receptor genetic deletion and selective striatal cholinergic interneuron (SCIN) ablation...
May 2, 2017: Neuropharmacology
https://www.readbyqxmd.com/read/28476640/pathophysiology-in-the-comorbidity-of-bipolar-disorder-and-alzheimer-s-disease-pharmacological-and-stem-cells-approaches
#19
REVIEW
Juliana da Cruz Corrêa-Velloso, Maria Carolina Bittencourt Gonçalves, Yahaira Naaldijk, Ágatha Oliveira-Giacomelli, Micheli Mainardi Pillat, Henning Ulrich
Neuropsychiatric disorders involve various pathological mechanisms, resulting in neurodegeneration and brain atrophy. Neurodevelopmental processes have shown to be critical for the progression of those disorders, which are based on genetic and epigenetic mechanisms as well as on extrinsic factors. We review here common mechanisms underlying the comorbidity of Bipolar Disorders and Alzheimer's Disease, such as aberrant neurogenesis and neurotoxicity, reporting current therapeutic approaches. The understanding of these mechanisms precedes stem cell-based strategies as a new therapeutic possibility for treatment and prevention of Bipolar and Alzheimer's Diseases progression...
May 2, 2017: Progress in Neuro-psychopharmacology & Biological Psychiatry
https://www.readbyqxmd.com/read/28469556/integrative-analysis-of-brain-region-specific-shank3-interactomes-for-understanding-the-heterogeneity-of-neuronal-pathophysiology-related-to-shank3-mutations
#20
Yeunkum Lee, Hyojin Kang, Bokyoung Lee, Yinhua Zhang, Yoonhee Kim, Shinhyun Kim, Won-Ki Kim, Kihoon Han
Recent molecular genetic studies have identified 100s of risk genes for various neurodevelopmental and neuropsychiatric disorders. As the number of risk genes increases, it is becoming clear that different mutations of a single gene could cause different types of disorders. One of the best examples of such a gene is SHANK3, which encodes a core scaffold protein of the neuronal excitatory post-synapse. Deletions, duplications, and point mutations of SHANK3 are associated with autism spectrum disorders, intellectual disability, schizophrenia, bipolar disorder, and attention deficit hyperactivity disorder...
2017: Frontiers in Molecular Neuroscience
keyword
keyword
60586
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"