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https://www.readbyqxmd.com/read/28529667/motor-problems-in-children-with-neurofibromatosis-type-1
#1
André B Rietman, Rianne Oostenbrink, Sanne Bongers, Eddy Gaukema, Sandra van Abeelen, Jos G Hendriksen, Caspar W N Looman, Pieter F A de Nijs, Marie-Claire de Wit
BACKGROUND: Children with the neurogenetic disorder neurofibromatosis type 1 (NF1) often have problems with learning and behaviour. In both parent reports and neuropsychological assessment, motor problems are reported in approximately one third to one half of the children with NF1. Studies using broad motor performance test batteries with relatively large groups of children with NF1 are limited. The aim of this cross-sectional observational study was to describe the severity of motor problems in children with NF1 and to explore the predictive value of demographics, intelligence, and behavioural problems...
2017: Journal of Neurodevelopmental Disorders
https://www.readbyqxmd.com/read/28524722/lesch-nyhan-disease-in-two-families-from-chilo%C3%A3-island-with-mutations-in-the-hprt1-gene
#2
Khue Vu Nguyen, Sebastian Silva, Monica Troncoso, Robert K Naviaux, William L Nyhan
Lesch-Nyhan disease (LND) is a rare X-linked inherited neurogenetic disorder of purine metabolism in which the enzyme, hypoxanthine-guanine phosphoribosyltransferase (HGprt) is defective. The authors report two independent point mutations leading to splicing errors: IVS 2 +1G>A, c.134 +1G>A, and IVS 3 +1G>A, c.318 +1G>A in the hypoxanthine-phosphoribosyltransferase1 (HPRT1) gene which result in exclusion of exon 2 and exon 3 respectively, in the HGprt enzyme protein from different members of two Chiloé Island families...
May 19, 2017: Nucleosides, Nucleotides & Nucleic Acids
https://www.readbyqxmd.com/read/28510708/aberrant-white-matter-microstructure-in-children-and-adolescents-with-the-subtype-of-prader-willi-syndrome-at-high-risk-for-psychosis
#3
Akvile Lukoshe, Gerbrich E van den Bosch, Aad van der Lugt, Steven A Kushner, Anita C Hokken-Koelega, Tonya White
Prader-Willi Syndrome (PWS) is a complex neurogenetic disorder caused by loss of the paternal 15q11.2-q13 locus, due to deletion (DEL), maternal uniparental disomy (mUPD), or imprinting center defects. Individuals with mUPD have up to 60% risk of developing psychosis in early adulthood. Given the increasing evidence for white matter abnormalities in psychotic disorders, we investigated white matter microstructure in children and adolescents with PWS, with a particular emphasis on the DEL and mUPD subtypes. Magnetic resonance diffusion weighted images were acquired in 35 directions at 3T and analyzed using fractional anisotropy (FA), mean, axial, and radial diffusivity (MD, AD, RD) values obtained by tract-based spatial statistics (TBSS) in 28 children and adolescents with PWS and 61 controls...
May 16, 2017: Schizophrenia Bulletin
https://www.readbyqxmd.com/read/28481932/unmasking-adrenoleukodystrophy-in-a-cohort-of-cerebellar-ataxia
#4
Ying-Hao Chen, Yi-Chung Lee, Yu-Shuen Tsai, Yuh-Cherng Guo, Cheng-Tsung Hsiao, Pei-Chien Tsai, Jin-An Huang, Yi-Chu Liao, Bing-Wen Soong
Adrenoleukodystrophy (ALD) is a rare and progressive neurogenetic disease that may manifest disparate symptoms. The present study aims at investigating the role of ataxic variant of ALD (AVALD) in patients with adult-onset cerebellar ataxia, as well as characterizing their clinical features that distinguish AVALD from other cerebellar ataxias. Mutations in the ATP binding cassette subfamily D member 1 gene (ABCD1) were ascertained in 516 unrelated patients with ataxia. The patients were categorized into three groups: molecularly unassigned hereditary ataxia (n = 118), sporadic ataxia with autonomic dysfunctions (n = 296), and sporadic ataxia without autonomic dysfunctions (n = 102)...
2017: PloS One
https://www.readbyqxmd.com/read/28469564/pavlovian-conditioning-of-larval-drosophila-an-illustrated-multilingual-hands-on-manual-for-odor-taste-associative-learning-in-maggots
#5
Birgit Michels, Timo Saumweber, Roland Biernacki, Jeanette Thum, Rupert D V Glasgow, Michael Schleyer, Yi-Chun Chen, Claire Eschbach, Reinhard F Stocker, Naoko Toshima, Teiichi Tanimura, Matthieu Louis, Gonzalo Arias-Gil, Manuela Marescotti, Fabio Benfenati, Bertram Gerber
Larval Drosophila offer a study case for behavioral neurogenetics that is simple enough to be experimentally tractable, yet complex enough to be worth the effort. We provide a detailed, hands-on manual for Pavlovian odor-reward learning in these animals. Given the versatility of Drosophila for genetic analyses, combined with the evolutionarily shared genetic heritage with humans, the paradigm has utility not only in behavioral neurogenetics and experimental psychology, but for translational biomedicine as well...
2017: Frontiers in Behavioral Neuroscience
https://www.readbyqxmd.com/read/28436452/disrupted-neuronal-maturation-in-angelman-syndrome-derived-induced-pluripotent-stem-cells
#6
James J Fink, Tiwanna M Robinson, Noelle D Germain, Carissa L Sirois, Kaitlyn A Bolduc, Amanda J Ward, Frank Rigo, Stormy J Chamberlain, Eric S Levine
Angelman syndrome (AS) is a neurogenetic disorder caused by deletion of the maternally inherited UBE3A allele and is characterized by developmental delay, intellectual disability, ataxia, seizures and a happy affect. Here, we explored the underlying pathophysiology using induced pluripotent stem cell-derived neurons from AS patients and unaffected controls. AS-derived neurons showed impaired maturation of resting membrane potential and action potential firing, decreased synaptic activity and reduced synaptic plasticity...
April 24, 2017: Nature Communications
https://www.readbyqxmd.com/read/28432641/dentatorubro-pallidoluysian-atrophy-drpla-among-700-families-with-ataxia-in-brazil
#7
Pedro Braga-Neto, José Luiz Pedroso, Gabriel Vasata Furtado, Tailise Conte Gheno, Maria Luiza Saraiva-Pereira, Laura Bannach Jardim, Orlando G P Barsottini
Dentatorubro-pallidoluysian atrophy (DRPLA) is a spinocerebellar ataxia (SCA) very rare in non-Asian populations. To date, DRPLA was undetected in the general Brazilian population. Adult-onset ataxic patients have been recruited from several Brazilian neurology and neurogenetics centers. CAG lengths at SCA1, SCA2, SCA3/MJD, SCA6, SCA7, SCA12, SCA17 and DRPLA associated genes, and ATTCT expansions at SCA10 gene were studied. A single DRPLA case detected is reported. Proband was a 69-year-old Brazilian woman of mixed ancestry, with a late-onset pure ataxia: her alleles at the associated gene, ATN1, presented 14/52 CAG repeats...
April 21, 2017: Cerebellum
https://www.readbyqxmd.com/read/28426957/emerging-global-initiatives-in-neurogenetics-the-enhancing-neuroimaging-genetics-through-meta-analysis-enigma-consortium
#8
Carrie E Bearden, Paul M Thompson
The Enhancing Neuroimaging Genetics through Meta-analysis (ENIGMA) Consortium is a global team science effort, now including over 800 scientists spread across 340 institutions in 35 countries, with the shared goal of understanding disease and genetic influences on the brain. This "crowdsourcing" approach to team neuroscience has unprecedented power for advancing our understanding of both typical and atypical human brain development.
April 19, 2017: Neuron
https://www.readbyqxmd.com/read/28416813/brain-derived-neurotrophic-factor-val-66-met-genotype-and-ovarian-steroids-interactively-modulate-working-memory-related-hippocampal-function-in-women-a-multimodal-neuroimaging-study
#9
S-M Wei, E B Baller, P D Kohn, J S Kippenhan, B Kolachana, S J Soldin, D R Rubinow, P J Schmidt, K F Berman
Preclinical evidence suggests that the actions of ovarian steroid hormones and brain-derived neurotrophic factor (BDNF) are highly convergent on brain function. Studies in humanized mice document an interaction between estrus cycle-related changes in estradiol secretion and BDNF Val(66)Met genotype on measures of hippocampal function and anxiety-like behavior. We believe our multimodal imaging data provide the first demonstration in women that the effects of the BDNF Val/Met polymorphism on hippocampal function are selectively modulated by estradiol...
April 18, 2017: Molecular Psychiatry
https://www.readbyqxmd.com/read/28396626/pattern-of-neurogenesis-and-identification-of-neuronal-progenitor-subtypes-during-pallial-development-in-xenopus-laevis
#10
Nerea Moreno, Agustín González
The complexity of the pallium during evolution has increased dramatically in many different respects. The highest level of complexity is found in mammals, where most of the pallium (cortex) shows a layered organization and neurons are generated during development following an inside-out order, a sequence not observed in other amniotes (birds and reptiles). Species-differences may be related to major neurogenetic events, from the neural progenitors that divide and produce all pallial cells. In mammals, two main types of precursors have been described, primary precursor cells in the ventricular zone (vz; also called radial glial cells or apical progenitors) and secondary precursor cells (called basal or intermediate progenitors) separated from the ventricle surface...
2017: Frontiers in Neuroanatomy
https://www.readbyqxmd.com/read/28392909/neurogenetic-analysis-of-childhood-disintegrative-disorder
#11
Abha R Gupta, Alexander Westphal, Daniel Y J Yang, Catherine A W Sullivan, Jeffrey Eilbott, Samir Zaidi, Avery Voos, Brent C Vander Wyk, Pam Ventola, Zainulabedin Waqar, Thomas V Fernandez, A Gulhan Ercan-Sencicek, Michael F Walker, Murim Choi, Allison Schneider, Tammy Hedderly, Gillian Baird, Hannah Friedman, Cara Cordeaux, Alexandra Ristow, Frederick Shic, Fred R Volkmar, Kevin A Pelphrey
BACKGROUND: Childhood disintegrative disorder (CDD) is a rare form of autism spectrum disorder (ASD) of unknown etiology. It is characterized by late-onset regression leading to significant intellectual disability (ID) and severe autism. Although there are phenotypic differences between CDD and other forms of ASD, it is unclear if there are neurobiological differences. METHODS: We pursued a multidisciplinary study of CDD (n = 17) and three comparison groups: low-functioning ASD (n = 12), high-functioning ASD (n = 50), and typically developing (n = 26) individuals...
2017: Molecular Autism
https://www.readbyqxmd.com/read/28392281/human-stem-cell-modeling-in-neurofibromatosis-type-1-nf1
#12
REVIEW
Michelle L Wegscheid, Corina Anastasaki, David H Gutmann
The future of precision medicine is heavily reliant on the use of human tissues to identify the key determinants that account for differences between individuals with the same disorder. This need is exemplified by the neurofibromatosis type 1 (NF1) neurogenetic condition. As such, individuals with NF1 are born with a germline mutation in the NF1 gene, but may develop numerous distinct neurological problems, ranging from autism and attention deficit to brain and peripheral nerve sheath tumors. Coupled with accurate preclinical mouse models, the availability of NF1 patient-derived induced pluripotent stem cells (iPSCs) provides new opportunities to define the critical factors that underlie NF1-associated nervous system disease pathogenesis and progression...
April 6, 2017: Experimental Neurology
https://www.readbyqxmd.com/read/28391017/pretreatment-with-minocycline-restores-neurogenesis-in-the-subventricular-zone-and-subgranular-zone-of-the-hippocampus-after-ketamine-exposure-in-neonatal-rats
#13
Yang Lu, P K Giri, Shan Lei, Juan Zheng, Weisong Li, Ning Wang, Xinlin Chen, Haixia Lu, Zhiyi Zuo, Yong Liu, Pengbo Zhang
Ketamine is commonly used for anesthesia in pediatric patients. Recent studies indicated that ketamine exposure in the developing brain can induce neuroapoptosis and disturb normal neurogenesis, which will result in long-lasting cognitive impairment. Minocycline exerts neuroprotection against a wide range of toxic insults in neurodegenerative disease models. In the present study, we investigated whether the disturbed neurogenesis and behavioral deficits after ketamine neonatal exposure could be alleviated by minocycline...
June 3, 2017: Neuroscience
https://www.readbyqxmd.com/read/28384803/a-diagnostic-marker-to-discriminate-childhood-apraxia-of-speech-from-speech-delay-ii-validity-studies-of-the-pause-marker
#14
Lawrence D Shriberg, Edythe A Strand, Marios Fourakis, Kathy J Jakielski, Sheryl D Hall, Heather B Karlsson, Heather L Mabie, Jane L McSweeny, Christie M Tilkens, David L Wilson
Purpose: The purpose of this 2nd article in this supplement is to report validity support findings for the Pause Marker (PM), a proposed single-sign diagnostic marker of childhood apraxia of speech (CAS). Method: PM scores and additional perceptual and acoustic measures were obtained from 296 participants in cohorts with idiopathic and neurogenetic CAS, adult-onset apraxia of speech and primary progressive apraxia of speech, and idiopathic speech delay. Results: Adjusted for questionable specificity disagreements with a pediatric Mayo Clinic diagnostic standard, the estimated sensitivity and specificity, respectively, of the PM were 86...
April 5, 2017: Journal of Speech, Language, and Hearing Research: JSLHR
https://www.readbyqxmd.com/read/28384751/a-diagnostic-marker-to-discriminate-childhood-apraxia-of-speech-from-speech-delay-iii-theoretical-coherence-of-the-pause-marker-with-speech-processing-deficits-in-childhood-apraxia-of-speech
#15
Lawrence D Shriberg, Edythe A Strand, Marios Fourakis, Kathy J Jakielski, Sheryl D Hall, Heather B Karlsson, Heather L Mabie, Jane L McSweeny, Christie M Tilkens, David L Wilson
Purpose: Previous articles in this supplement described rationale for and development of the pause marker (PM), a diagnostic marker of childhood apraxia of speech (CAS), and studies supporting its validity and reliability. The present article assesses the theoretical coherence of the PM with speech processing deficits in CAS. Method: PM and other scores were obtained for 264 participants in 6 groups: CAS in idiopathic, neurogenetic, and complex neurodevelopmental disorders; adult-onset apraxia of speech (AAS) consequent to stroke and primary progressive apraxia of speech; and idiopathic speech delay...
April 5, 2017: Journal of Speech, Language, and Hearing Research: JSLHR
https://www.readbyqxmd.com/read/28384662/a-diagnostic-marker-to-discriminate-childhood-apraxia-of-speech-from-speech-delay-iv-the-pause-marker-index
#16
Lawrence D Shriberg, Edythe A Strand, Marios Fourakis, Kathy J Jakielski, Sheryl D Hall, Heather B Karlsson, Heather L Mabie, Jane L McSweeny, Christie M Tilkens, David L Wilson
Purpose: Three previous articles provided rationale, methods, and several forms of validity support for a diagnostic marker of childhood apraxia of speech (CAS), termed the pause marker (PM). Goals of the present article were to assess the validity and stability of the PM Index (PMI) to scale CAS severity. Method: PM scores and speech, prosody, and voice precision-stability data were obtained for participants with CAS in idiopathic, neurogenetic, and complex neurodevelopmental disorders; adult-onset apraxia of speech consequent to stroke and primary progressive apraxia; and idiopathic speech delay...
April 5, 2017: Journal of Speech, Language, and Hearing Research: JSLHR
https://www.readbyqxmd.com/read/28364727/hypothalamic-pituitary-adrenal-axis-genetic-variation-and-early-stress-moderates-amygdala-function
#17
Christina R Di Iorio, Caitlin E Carey, Lindsay J Michalski, Nadia S Corral-Frias, Emily Drabant Conley, Ahmad R Hariri, Ryan Bogdan
Early life stress may precipitate psychopathology, at least in part, by influencing amygdala function. Converging evidence across species suggests that links between childhood stress and amygdala function may be dependent upon hypothalamic-pituitary-adrenal (HPA) axis function. Using data from college-attending non-Hispanic European-Americans (n=308) who completed the Duke Neurogenetics Study, we examined whether early life stress (ELS) and HPA axis genetic variation interact to predict threat-related amygdala function as well as psychopathology symptoms...
June 2017: Psychoneuroendocrinology
https://www.readbyqxmd.com/read/28351484/hypocapnic-hypothesis-of-leigh-disease
#18
Ewa Pronicka
Leigh syndrome (LS) is a neurogenetic disorder of children caused by mutations in at least 75 genes which impair mitochondrial bioenergetics. The changes have typical localization in basal ganglia and brainstem, and typical histological picture of spongiform appearance, vascular proliferation and gliosis. ATP deprivation, free radicals and lactate accumulation are suspected to be the causes. Hypocapnic hypothesis proposed in the paper questions the energy deprivation as the mechanism of LS. We assume that the primary harmful factor is hypocapnia (decrease in pCO2) and respiratory alkalosis (increase in pH) due to hyperventilation, permanent or in response to stress...
April 2017: Medical Hypotheses
https://www.readbyqxmd.com/read/28325880/balancing-selection-maintains-polymorphisms-at-neurogenetic-loci-in-field-experiments
#19
Eija Lonn, Esa Koskela, Tapio Mappes, Mikael Mokkonen, Angela M Sims, Phillip C Watts
Most variation in behavior has a genetic basis, but the processes determining the level of diversity at behavioral loci are largely unknown for natural populations. Expression of arginine vasopressin receptor 1a (Avpr1a) and oxytocin receptor (Oxtr) in specific regions of the brain regulates diverse social and reproductive behaviors in mammals, including humans. That these genes have important fitness consequences and that natural populations contain extensive diversity at these loci implies the action of balancing selection...
April 4, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/28318193/-neuropsychiatric-phenotype-of-angelman-syndrome-and-clinical-care-report-of-seven-cases
#20
Juan E Cote-Orozco, Paola Del Rocío Mera-Solarte, Eugenia Espinosa-García
Angelman syndrome is a neurogenetic disorder caused by a lack or reduction of expression of UBE3A located within chromosome 15, which codes for ubiquitin protein ligase E3A, which has a key role in synaptic development and neural plasticity. Its main features are developmental delay/intellectual disability, lack of speech, a characteristic behavioural profile, and epilepsy. We describe clinical features and management of seven cases with 15q11-13 deletion. Due to their life expectancy, knowing and managing its comorbidities is crucial to improve their quality of life...
April 1, 2017: Archivos Argentinos de Pediatría
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