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https://www.readbyqxmd.com/read/29673388/neural-circuits-driving-larval-locomotion-in-drosophila
#1
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
#2
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
#3
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
#4
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
#5
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
#6
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
#7
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
#8
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
#9
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...
March 16, 2018: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/29545638/neurogenetic-asymmetries-in-the-catshark-developing-habenulae-mechanistic-and-evolutionary-implications
#10
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
#11
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
https://www.readbyqxmd.com/read/29517408/magnetic-resonance-imaging-in-the-diagnosis-of-white-matter-signal-abnormalities
#12
Ravi Datar, Asuri Narayan Prasad, Keng Yeow Tay, Charles Anthony Rupar, Pavlo Ohorodnyk, Michael Miller, Chitra Prasad
Background White matter abnormalities (WMAs) pose a diagnostic challenge when trying to establish etiologic diagnoses. During childhood and adult years, genetic disorders, metabolic disorders and acquired conditions are included in differential diagnoses. To assist clinicians and radiologists, a structured algorithm using cranial magnetic resonance imaging (MRI) has been recommended to aid in establishing working diagnoses that facilitate appropriate biochemical and genetic investigations. This retrospective pilot study investigated the validity and diagnostic utility of this algorithm when applied to white matter signal abnormalities (WMSAs) reported on imaging studies of patients seen in our clinics...
January 1, 2018: Neuroradiology Journal
https://www.readbyqxmd.com/read/29515690/implementation-of-personalized-medicine-in-central-eastern-europe-pitfalls-and-potentials-based-on-citizen-s-attitude
#13
Peter Balicza, Andras Terebessy, Zoltan Grosz, Noemi Agnes Varga, Aniko Gal, Balint Andras Fekete, Maria Judit Molnar
Objective: Next-generation sequencing is increasingly utilized worldwide as a research and diagnostic tool and is anticipated to be implemented into everyday clinical practice. Since Central-Eastern European attitude toward genetic testing, especially broad genetic testing, is not well known, we performed a survey on this issue among Hungarian participants. Methods: A self-administered questionnaire was distributed among patients and patient relatives at our neurogenetic outpatient clinic...
March 2018: EPMA Journal
https://www.readbyqxmd.com/read/29479880/lesch-nyhan-syndrome-in-a-chinese-family-with-mutation-in-the-hypoxanthine-guanine-phosphoribosyltransferase-gene
#14
Jiao Huang, Chu Zhang, Qinxian Guo, Xianfeng Zhang, Lizhen Ma, Yuhong Zhan, Yu Chen
BACKGROUND: Lesch-Nyhan syndrome (LNS) is a congenital X-linked recessive neurogenetic disorder caused by mutations in the hypoxanthine-guanine phosphoribosyltransferase (HPRT) gene. The main clinical manifestation includes hyperuricemia, juvenile-onset gouty arthritis, and neurological developmental disorders. Studies have reported more than 400 HPRT gene mutation sites, but the incidence of LNS in the Chinese population is extremely low. METHODS: Here we report a 16-year-old male patient who suffered neurological dysfunction at an early age and gouty arthritis in his youth...
January 1, 2018: Clinical Laboratory
https://www.readbyqxmd.com/read/29478609/neurogenetics-of-pelizaeus-merzbacher-disease
#15
M Joana Osório, Steven A Goldman
Pelizaeus-Merzbacher disease (PMD) is an X-linked disorder caused by mutations in the PLP1 gene, which encodes the proteolipid protein of myelinating oligodendroglia. PMD exhibits phenotypic variability that reflects its considerable genotypic heterogeneity, but all forms of the disease result in central hypomyelination associated with early neurologic dysfunction, progressive deterioration, and ultimately death. PMD has been classified into three major subtypes, according to the age of presentation: connatal PMD, classic PMD, and transitional PMD, combining features of both connatal and classic forms...
2018: Handbook of Clinical Neurology
https://www.readbyqxmd.com/read/29454655/neurogenetic-approaches-to-stress-and-fear-in-humans-as-pathophysiological-mechanisms-for-posttraumatic-stress-disorder
#16
REVIEW
Frauke Nees, Stephanie H Witt, Herta Flor
In this review article, genetic variation associated with brain responses related to acute and chronic stress reactivity and fear learning in humans is presented as an important mechanism underlying posttraumatic stress disorder. We report that genes related to the regulation of the hypothalamic-pituitary-adrenal axis, as well as genes that modulate serotonergic, dopaminergic, and neuropeptidergic functions or plasticity, play a role in this context. The strong overlap of the genetic targets involved in stress and fear learning suggests that a dimensional and mechanistic model of the development of posttraumatic stress disorder based on these constructs is promising...
January 10, 2018: Biological Psychiatry
https://www.readbyqxmd.com/read/29449815/combinatorial-codes-and-labeled-lines-how-insects-use-olfactory-cues-to-find-and-judge-food-mates-and-oviposition-sites-in-complex-environments
#17
REVIEW
Alexander Haverkamp, Bill S Hansson, Markus Knaden
Insects, including those which provide vital ecosystems services as well as those which are devastating pests or disease vectors, locate their resources mainly based on olfaction. Understanding insect olfaction not only from a neurobiological but also from an ecological perspective is therefore crucial to balance insect control and conservation. However, among all sensory stimuli olfaction is particularly hard to grasp. Our chemical environment is made up of thousands of different compounds, which might again be detected by our nose in multiple ways...
2018: Frontiers in Physiology
https://www.readbyqxmd.com/read/29449625/toll-like-receptor-4-modulation-influences-human-neural-stem-cell-proliferation-and-differentiation
#18
Chiara Grasselli, Daniela Ferrari, Cristina Zalfa, Matias Soncini, Gianluigi Mazzoccoli, Fabio A Facchini, Laura Marongiu, Francesca Granucci, Massimiliano Copetti, Angelo Luigi Vescovi, Francesco Peri, Lidia De Filippis
Toll-like receptor 4 (TLR4) activation is pivotal to innate immunity and has been shown to regulate proliferation and differentiation of human neural stem cells (hNSCs) in vivo. Here we study the role of TLR4 in regulating hNSC derived from the human telencephalic-diencephalic area of the fetal brain and cultured in vitro as neurospheres in compliance with Good Manifacture Procedures (GMP) guidelines. Similar batches have been used in recent clinical trials in ALS patients. We found that TLR2 and 4 are expressed in hNSCs as well as CD14 and MD-2 co-receptors, and TLR4 expression is downregulated upon differentiation...
February 15, 2018: Cell Death & Disease
https://www.readbyqxmd.com/read/29432235/genetic-diagnostics-for-neurologists
#19
Laura Silveira-Moriyama, Alex R Paciorkowski
PURPOSE OF REVIEW: This article puts advances in the field of neurogenetics into context and provides a quick review of the broad concepts necessary for current practice in neurology. RECENT FINDINGS: The exponential growth of genetic testing is due to its increased speed and decreasing cost, and it is now a routine part of the clinical care for a number of neurologic patients. In addition, phenotypic pleiotropy (mutations in the same gene causing very disparate phenotypes) and genetic heterogeneity (the same clinical phenotype resulting from mutations in different genes) are now known to exist in a number of conditions, adding an additional layer of complexity for genetic testing in these disorders...
February 2018: Continuum: Lifelong Learning in Neurology
https://www.readbyqxmd.com/read/29422285/tom-bird-one-of-the-world-s-first-experts-in-neurogenetics
#20
Tony Kirby
No abstract text is available yet for this article.
February 5, 2018: Lancet Neurology
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