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https://www.readbyqxmd.com/read/29790100/the-neurogenesis-actuator-and-nr2b-nmda-receptor-antagonist-ro25-6981-consistently-improves-spatial-memory-retraining-via-brain-region-specific-gene-expression
#1
Marina A Gruden, Alexander M Ratmirov, Zinaida I Storozheva, Olga A Solovieva, Vladimir V Sherstnev, Robert D E Sewell
NR2B-containing NMDA (NR2B/NMDA) receptors are important in controlling neurogenesis and are involved in generating spatial memory. Ro25-6981 is a selective antagonist at these receptors and actuates neurogenesis and spatial memory. Inter-structural neuroanatomical profiles of gene expression regulating adult neurogenesis and neuroapoptosis require examination in the context of memory retrieval and reversal learning. The aim was to investigate spatial memory retrieval and reversal learning in relation to gene expression-linked neurogenetic processes following blockade of NR2B/NMDA receptors by Ro25-6981...
May 22, 2018: Journal of Molecular Neuroscience: MN
https://www.readbyqxmd.com/read/29772390/pathobiology-of-christianson-syndrome-linking-disrupted-endosomal-lysosomal-function-with-intellectual-disability-and-sensory-impairments
#2
Mallory Kerner-Rossi, Maria Gulinello, Steven Walkley, Kostantin Dobrenis
Christianson syndrome (CS) is a recently described rare neurogenetic disorder presenting early in life with a broad range of neurological symptoms, including severe intellectual disability with nonverbal status, hyperactivity, epilepsy, and progressive ataxia due to cerebellar atrophy. CS is due to loss-of-function mutations in SLC9A6, encoding NHE6, a sodium-hydrogen exchanger involved in the regulation of early endosomal pH. Here we review what is currently known about the neuropathogenesis of CS, based on insights from experimental models, which to date have focused on mechanisms that affect the CNS, specifically the brain...
May 14, 2018: Neurobiology of Learning and Memory
https://www.readbyqxmd.com/read/29769227/influences-cold-spring-harbor-summer-courses-and-drosophila-melanogaster-neurogenetics
#3
Lily Yeh Jan, Yuh Nung Jan
No abstract text is available yet for this article.
May 16, 2018: Journal of General Physiology
https://www.readbyqxmd.com/read/29757269/combining-quantitative-food-intake-assays-and-forcibly-activating-neurons-to-study-appetite-in-drosophila
#4
Lifen Jiang, Yinpeng Zhan, Yan Zhu
Food consumption is under the tight control of the brain, which integrates the physiological status, palatability, and nutritional contents of the food, and issues commands to start or stop feeding. Deciphering the processes underlying the decision-making of timely and moderate feeding carries major implications in our understanding of physiological and psychological disorders related to feeding control. Simple, quantitative, and robust methods are required to measure the food ingestion of animals after experimental manipulation, such as forcibly increasing the activities of certain target neurons...
April 24, 2018: Journal of Visualized Experiments: JoVE
https://www.readbyqxmd.com/read/29735722/mtdna-heteroplasmy-level-and-copy-number-indicate-disease-burden-in-m-3243a-g-mitochondrial-disease
#5
John P Grady, Sarah J Pickett, Yi Shiau Ng, Charlotte L Alston, Emma L Blakely, Steven A Hardy, Catherine L Feeney, Alexandra A Bright, Andrew M Schaefer, Gráinne S Gorman, Richard Jq McNally, Robert W Taylor, Doug M Turnbull, Robert McFarland
Mitochondrial disease associated with the pathogenic m.3243A>G variant is a common, clinically heterogeneous, neurogenetic disorder. Using multiple linear regression and linear mixed modelling, we evaluated which commonly assayed tissue (blood N  = 231, urine N  = 235, skeletal muscle N  = 77) represents the m.3243A>G mutation load and mitochondrial DNA (mtDNA) copy number most strongly associated with disease burden and progression. m.3243A>G levels are correlated in blood, muscle and urine ( R 2  = 0...
May 7, 2018: EMBO Molecular Medicine
https://www.readbyqxmd.com/read/29721970/further-characterization-of-the-predominant-inner-retinal-degeneration-of-aging-cln3-%C3%AE-ex7-8-knock-in-mice
#6
Cornelia Volz, Myriam Mirza, Thomas Langmann, Herbert Jägle
Neuronal ceroid lipofuscinosis (NCL) is the most common group of neurogenetic storage diseases typically beginning in childhood. The juvenile form (JNCL), also known as Batten disease, is the most common form. Vision-related problems are often an early sign, appearing prior to motor and mental deficits. We have previously investigated disease progression with age in the Cln3 Δex7/8 KI mouse model for JNCL and showed a decline of visual acuity and a predominant decline of the inner retinal function in mice, similar to human disease...
2018: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/29713304/uncovering-true-cellular-phenotypes-using-induced-pluripotent-stem-cell-derived-neurons-to-study-early-insults-in-neurodevelopmental-disorders
#7
REVIEW
James J Fink, Eric S Levine
Animal models of neurodevelopmental disorders have provided invaluable insights into the molecular-, cellular-, and circuit-level defects associated with a plethora of genetic disruptions. In many cases, these deficits have been linked to changes in disease-relevant behaviors, but very few of these findings have been translated to treatments for human disease. This may be due to significant species differences and the difficulty in modeling disorders that involve deletion or duplication of multiple genes. The identification of primary underlying pathophysiology in these models is confounded by the accumulation of secondary disease phenotypes in the mature nervous system, as well as potential compensatory mechanisms...
2018: Frontiers in Neurology
https://www.readbyqxmd.com/read/29709585/emerging-role-of-viral-vectors-for-circuit-specific-gene-interrogation-and-manipulation-in-rodent-brain
#8
REVIEW
Erika Sarno, Alfred J Robison
Over the past half century, novel tools have allowed the characterization of myriad molecular underpinnings of neural phenomena including synaptic function, neurogenesis and neurodegeneration, membrane excitability, and neurogenetics/epigenetics. More recently, transgenic mice have made possible cell type-specific explorations of these phenomena and have provided critical models of many neurological and psychiatric diseases. However, it has become clear that many critical areas of study require tools allowing the study and manipulation of individual neural circuits within the brain, and viral vectors have come to the forefront in driving these circuit-specific studies...
April 27, 2018: Pharmacology, Biochemistry, and Behavior
https://www.readbyqxmd.com/read/29696750/angelman-syndrome-in-adolescence-and-adulthood-a-retrospective-chart-review-of-53-cases
#9
Ankita Prasad, Olivia Grocott, Kimberly Parkin, Anna Larson, Ronald L Thibert
Angelman syndrome is a neurogenetic disorder with varying clinical presentations and symptoms as the individual ages. The goal of this study was to characterize changes over time in the natural history of this syndrome in a large population. We reviewed the medical records of the 53 patients who were born prior to 2000 and seen at the Angelman Syndrome Clinic at Massachusetts General Hospital to assess neurological, sleep, behavioral, gastrointestinal, orthopedic, and ophthalmologic functioning. The average age of this cohort was 24 years...
April 25, 2018: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29673388/neural-circuits-driving-larval-locomotion-in-drosophila
#10
REVIEW
Matthew Q Clark, Aref Arzan Zarin, Arnaldo Carreira-Rosario, Chris Q Doe
More than 30 years of studies into Drosophila melanogaster neurogenesis have revealed fundamental insights into our understanding of axon guidance mechanisms, neural differentiation, and early cell fate decisions. What is less understood is how a group of neurons from disparate anterior-posterior axial positions, lineages and developmental periods of neurogenesis coalesce to form a functional circuit. Using neurogenetic techniques developed in Drosophila it is now possible to study the neural substrates of behavior at single cell resolution...
April 19, 2018: Neural Development
https://www.readbyqxmd.com/read/29667863/leo-kanner-and-autism-a-75-year-perspective
#11
James Harris
In 1943, Leo Kanner published the first systematic description of early infantile autism. He concluded that this was a neurodevelopmental disorder and that 'these children have come into the world with an innate inability to form the usual, biologically provided contact with people'. Moreover, his astute descriptions of parental behavior in his first publications were prescient and underlie later recognition of the importance of genetics. Our understanding has grown over the ensuing years with revisions in diagnostic classification, recognition of the broader autism phenotype in families, appreciation of the importance of developmental models, advances in genetic methodology, better understanding of the relationship to intellectual deficits, recognition of syndromic autism in neurogenetic sydromes, advances in neuroimaging, and advances in animal models, both mutant mouse models and transgenic non human primate models...
April 18, 2018: International Review of Psychiatry
https://www.readbyqxmd.com/read/29644913/possible-modifier-genes-in-the-variation-of-neurofibromatosis-type-1-clinical-phenotypes
#12
Parisa Sharafi, Sükriye Ayter
Neurofibromatosis type 1 (NF1) is the most common neurogenetic disorder worldwide, caused by mutations in the (NF1) gene. Although NF1 is a single-gene disorder with autosomal-dominant inheritance, its clinical expression is highly variable and unpredictable. NF1 patients have the highest known mutation rate among all human disorders, with no clear genotype-phenotype correlations. Therefore, variations in NF1 mutations may not correlate with the variations in clinical phenotype. Indeed, for the same mutation, some NF1 patients may develop severe clinical symptoms whereas others will develop a mild phenotype...
April 12, 2018: Journal of Neurogenetics
https://www.readbyqxmd.com/read/29618358/clinical-and-molecular-characterization-of-112-single-center-patients-with-neurofibromatosis-type-1
#13
Giovanni Corsello, Vincenzo Antona, Gregorio Serra, Federico Zara, Clara Giambrone, Luca Lagalla, Maria Piccione, Ettore Piro
BACKGROUND: The aim of this retrospective study was to define clinical and molecular characteristics of a large sample of neurofibromatosis type 1 (NF1) patients, as well as to evaluate mutational spectrum and genotype-phenotype correlation. NF1 is a relatively common neurogenetic disorder (1:2500-1:3000 individuals). It is caused by mutations of the NF1 gene on chromosome 17ql1.2, with autosomal dominant pattern of inheritance and wide phenotypical variability. Café-au-lait spots (CALs), cutaneous and/or subcutaneous neurofibromas (CNFs/SCNFs), skinfold freckling, skeletal abnormalities, Lisch nodules of the iris and increased risk of learning and intellectual disabilities, as well as tumors of the nervous system and other organs are its main clinical features...
April 4, 2018: Italian Journal of Pediatrics
https://www.readbyqxmd.com/read/29617679/simvastatin-attenuates-neurogenetic-damage-and-improves-neurocongnitive-deficits-induced-by-isoflurane-in-neonatal-rats
#14
Ning Wang, Yang Lu, Kui Wang, Wei-Song Li, Pan Lu, Shan Lei, Rong Li, Hong Zhang, Juan Zheng, Hai-Xia Lu, Xin-Lin Chen, Yong Liu, Peng-Bo Zhang
BACKGROUND/AIMS: Isoflurane inhibited neurogenesis and induced subsequent neurocognitive deficits in developing brain. Simvastatin exerts neuroprotection in a wide range of brain injury models. In the present study, we investigated whether simvastatin could attenuate neurogenetic inhibition and cognitive deficits induced by isoflurane exposure in neonatal rats. METHODS: Sprague-Dawley rats at postnatal day (PND) 7 and neural stem cells (NSCs) were treated with either gas mixture, isoflurane, or simvastatin 60 min prior to isoflurane exposure, respectively...
March 28, 2018: Cellular Physiology and Biochemistry
https://www.readbyqxmd.com/read/29597185/diazepam-for-outpatient-treatment-of-nonconvulsive-status-epilepticus-in-pediatric-patients-with-angelman-syndrome
#15
Lila Worden, Olivia Grocott, Amanda Tourjee, Fonda Chan, Ronald Thibert
Nonconvulsive status epilepticus (NCSE) is present in multiple pediatric neurogenetic syndromes with epileptic encephalopathies. While intravenous (IV) medications are used inpatient for treatment of critical illness-related NCSE, there is no consensus on treatment of ambulatory NCSE. Up to 50% of patients with Angelman syndrome (AS) have NCSE with myoclonic or atypical absence status. Here we report our experience in pediatric patients with AS and NCSE treated outpatient with a tapering course of oral diazepam...
March 26, 2018: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/29593781/incidentalome-in-neurogenetics-pathogenic-variant-of-nsd1-in-a-patient-with-spinocerebellar-ataxia-sca
#16
Harvy Velasco, Diana Ramírez-Montaño
Background: Genetic studies of late-onset sporadic ataxias (>40 years of age) are not routinely indicated. For unresolved cases, next-generation sequencing (NGS) tools, such as whole-exome sequencing (WES), are available for a definitive diagnosis. Case presentation: Our patient is a woman with a usual facial phenotype and anthropometry, who developed ataxia at 45 years of age, with no relevant family history and an initial clinical approach that ruled out common aetiologies. WES was performed when the patient was 54 years old...
2018: Frontiers in Genetics
https://www.readbyqxmd.com/read/29589152/genetic-test-utilization-and-diagnostic-yield-in-adult-patients-with-neurological-disorders
#17
Tanya M Bardakjian, Ingo Helbig, Colin Quinn, Lauren B Elman, Leo F McCluskey, Steven S Scherer, Pedro Gonzalez-Alegre
To determine the diagnostic yield of different genetic test modalities in adult patients with neurological disorders, we evaluated all adult patients seen for genetic diagnostic evaluation in the outpatient neurology practice at the University of Pennsylvania between January 2016 and April 2017 as part of the newly created Penn Neurogenetics Program. Subjects were identified through our electronic medical system as those evaluated by the Program's single clinical genetic counselor in that period. A total of 377 patients were evaluated by the Penn Neurogenetics Program in different settings and genetic testing recommended...
March 28, 2018: Neurogenetics
https://www.readbyqxmd.com/read/29555100/myoclonus-in-angelman-syndrome
#18
Sarah F Pollack, Olivia R Grocott, Kimberly A Parkin, Anna M Larson, Ronald L Thibert
Angelman syndrome (AS) is a neurogenetic imprinting disorder caused by loss of the maternally inherited Ube3a gene and is characterized by generalized epilepsy, limited expressive speech, sleep dysfunction, and movement disorders. Myoclonic seizures are often the first seizure type to appear, and myoclonic status, associated with developmental regression, may occur in the first few years of life. Additionally, there have been rare reports of prolonged episodes of myoclonus without electrographic correlate in adults with AS...
May 2018: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/29545638/neurogenetic-asymmetries-in-the-catshark-developing-habenulae-mechanistic-and-evolutionary-implications
#19
Ronan Lagadec, Maxence Lanoizelet, Nuria Sánchez-Farías, Fanny Hérard, Arnaud Menuet, Hélène Mayeur, Bernard Billoud, Isabel Rodriguez-Moldes, Eva Candal, Sylvie Mazan
Analysis of the establishment of epithalamic asymmetry in two non-conventional model organisms, a cartilaginous fish and a lamprey, has suggested that an essential role of Nodal signalling, likely to be ancestral in vertebrates, may have been largely lost in zebrafish. In order to decipher the cellular mechanisms underlying this divergence, we have characterised neurogenetic asymmetries during habenular development in the catshark Scyliorhinus canicula and addressed the mechanism involved in this process. As in zebrafish, neuronal differentiation starts earlier on the left side in the catshark habenulae, suggesting the conservation of a temporal regulation of neurogenesis...
March 15, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29524103/the-benefits-of-a-neurogenetics-clinic-in-an-adult-academic-teaching-hospital
#20
Diana A Olszewska, Terri McVeigh, Emer M Fallon, Gregory M Pastores, Tim Lynch
Genetics is the backbone of Neurology, where a number of disorders have a genetic aetiology and are complex, requiring a dedicated Neurogenetics clinic. Genetics in the Republic of Ireland is under-resourced, with the lowest number of consultants per million of population in Europe. In November 2014, we established the monthly adult Neurogenetics clinic in Ireland, staffed by 2 consultants and 2 registrars from each speciality. We see patients with complex rare neurological conditions that may potentially have an underlying genetic basis, in the presence or absence of a family history...
March 9, 2018: Irish Journal of Medical Science
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