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https://www.readbyqxmd.com/read/27898583/genetic-control-of-postnatal-human-brain-growth
#1
Laura I van Dyck, Eric M Morrow
PURPOSE OF REVIEW: Studies investigating postnatal brain growth disorders inform the biology underlying the development of human brain circuitry. This research is becoming increasingly important for the diagnosis and treatment of childhood neurodevelopmental disorders, including autism and related disorders. Here, we review recent research on typical and abnormal postnatal brain growth and examine potential biological mechanisms. RECENT FINDINGS: Clinically, brain growth disorders are heralded by diverging head size for a given age and sex, but are more precisely characterized by brain imaging, post-mortem analysis, and animal model studies...
November 24, 2016: Current Opinion in Neurology
https://www.readbyqxmd.com/read/27896282/a-patient-with-lissencephaly-developmental-delay-and-infantile-spasms-due-to-de-novo-heterozygous-mutation-of-kif2a
#2
Guoling Tian, Ana G Cristancho, Holly A Dubbs, Grant T Liu, Nicholas J Cowan, Ethan M Goldberg
BACKGROUND: Microtubules are dynamic polymers of α/β tubulin heterodimers that play a critical role in cerebral cortical development, by regulating neuronal migration, differentiation, and morphogenesis. Mutations in genes that encode either α- or β-tubulin or a spectrum of proteins involved in the regulation of microtubule dynamics lead to clinically devastating malformations of cortical development, including lissencephaly. METHODS: This is a single case report or a patient with lissencephaly, developmental delay, nystagmus, persistent hyperplastic primary vitreous, and infantile spasms, and undertook a neurogenetic workup...
November 2016: Molecular Genetics & Genomic Medicine
https://www.readbyqxmd.com/read/27895198/autism-and-reactive-attachment-disinhibited-social-engagement-disorders-co-occurrence-and-differentiation
#3
Susan Dickerson Mayes, Susan L Calhoun, Daniel A Waschbusch, Raman Baweja
DSM-5 (Diagnostic and Statistical Manual of Mental Disorders, 5th edition) Reactive Attachment Disorder (RAD) and Disinhibited Social Engagement Disorder (DSED) are rare disorders sharing social difficulties with autism. The DSM-5 and ICD-10 (International Classification of Diseases, 10th revsion) state that RAD/DSED should not be diagnosed in children with autism. The purpose of our study is to determine whether children can meet criteria for both autism and RAD/DSED and to identify specific symptoms discriminating the disorders...
November 28, 2016: Clinical Child Psychology and Psychiatry
https://www.readbyqxmd.com/read/27890662/a-genetic-association-study-of-csmd1-and-csmd2-with-cognitive-function
#4
Lavinia Athanasiu, Sudheer Giddaluru, Carla Fernandes, Andrea Ivar Astri J Christoforou Reinvang Lundervold, Lars-Göran Nilsson, Karolina Kauppi, Rolf Adolfsson, Elias Eriksson, Kjetil Sundet, Srdjan Djurovic, Thomas Espeseth, Lars Nyberg, Vidar M Steen, Ole Andreassen, Stephanie Le Hellard
The complement cascade plays a role in synaptic pruning and synaptic plasticity, which seem to be involved in cognitive functions and psychiatric disorders. Genetic variants in the closely related CSMD1 and CSMD2 genes, which are implicated in complement regulation, are associated with schizophrenia. Since patients with schizophrenia often show cognitive impairments, we tested whether variants in CSMD1 and CSMD2 are also associated with cognitive functions per se. We took a discovery-replication approach, using well-characterized Scandinavian cohorts...
November 24, 2016: Brain, Behavior, and Immunity
https://www.readbyqxmd.com/read/27884797/breathing-abnormalities-in-animal-models-of-rett-syndrome-a-female-neurogenetic-disorder
#5
REVIEW
Chun Jiang, Ningren Cui, Weiwei Zhong, Christopher M Johnson, Yang Wu
A characteristic feature of Rett syndrome (RTT) is abnormal breathing accompanied by several other neurological and cognitive disorders. Since RTT rodent models became available, studies have begun shedding insight into the breathing abnormalities at behavioral, cellular and molecular levels. Defects are found in several groups of brainstem neurons involved in respiratory control, and potential neural mechanisms have been suggested. The findings in animal models are helpful in therapeutic strategies for people with RTT with respect to lowering sudden and unexpected death, preventing secondary developmental consequences, and improving the quality of lives...
November 21, 2016: Respiratory Physiology & Neurobiology
https://www.readbyqxmd.com/read/27882168/monozygotic-twins-with-infantile-neuroaxonal-dystrophy-a-case-report-and-literature-review
#6
Haifeng Li, Yan Zou, Xinhua Bao, Hui Wang, Jiangping Wang, Huiying Jin, Yuping Che, Xiaoyan Tang
Infantile neuroaxonal dystrophy (INAD) is a rare neurodegenerative disease with early onset. PLA2G6 gene mutations have been identified in the majority individuals with INAD. In future, molecular diagnosis of INAD will replace the invasive biopsies used previously. In the present report, monozygotic male twins with INAD were referred The Children's Hospital (Zhejiang University School of Medicine, Zhejiang, China) at fifteen months old for delayed development. The older brother was found to have developmental stagnation when he was 6 months old...
November 2016: Experimental and Therapeutic Medicine
https://www.readbyqxmd.com/read/27868460/the-neurogenetics-of-drosophila-the-ganetzky-legacy
#7
Kate M O'Connor-Giles, Bing Zhang, Julie H Simpson, Chun-Fang Wu
No abstract text is available yet for this article.
November 21, 2016: Journal of Neurogenetics
https://www.readbyqxmd.com/read/27815692/neurogenetics-in-child-neurology-redefining-a-discipline-in-the-twenty-first-century
#8
REVIEW
Walter E Kaufmann
Increasing knowledge on genetic etiology of pediatric neurologic disorders is affecting the practice of the specialty. I reviewed here the history of pediatric neurologic disorder classification and the role of genetics in the process. I also discussed the concept of clinical neurogenetics, with its role in clinical practice, education, and research. Finally, I propose a flexible model for clinical neurogenetics in child neurology in the twenty-first century. In combination with disorder-specific clinical programs, clinical neurogenetics can become a home for complex clinical issues, repository of genetic diagnostic advances, educational resource, and research engine in child neurology...
December 2016: Current Neurology and Neuroscience Reports
https://www.readbyqxmd.com/read/27797833/differential-adulthood-onset-mglu5-signaling-saves-prefrontal-function-in-the-fragile-x-mouse
#9
Henry G S Martin, Olivier Lassalle, Olivier J Manzoni
The final maturation of the prefrontal cortex (PFC) continues into early adulthood and is delayed compared with other forebrain structures. However, how these late onset changes in the PFC relate to neurodevelopment disorders is poorly understood. Fragile X syndrome (FXS) is a prevalent neurogenetic disorder linked to deficits in PFC function. mGlu5 is an important molecular hub in the etiology of FXS. Thus we have examined changes in mGlu5 function in the PFC in a mouse model of FXS (Fmr1 knockout) during early adulthood and subsequent maturity...
October 23, 2016: Cerebral Cortex
https://www.readbyqxmd.com/read/27780985/affordable-neurogenetic-screening-as-a-powerful-tool-for-beti-bachao
#10
EDITORIAL
Akshay Anand
No abstract text is available yet for this article.
October 2016: Annals of Neurosciences
https://www.readbyqxmd.com/read/27774246/inherited-proclivity-when-should-neurogenetics-mitigate-moral-culpability-for-purposes-of-sentencing
#11
J Bradley Segal
Certain genes and neurobiology ('neurogenetics') may predispose some people to violent behavior. Increasingly, defendants introduce neurogenetic evidence as a mitigating factor during criminal sentencing. Identifying the cause of a criminal act, biological or otherwise, does not necessarily preclude moral or legal liability. However, valid scientific evidence of an inherited proclivity sometimes should be considered when evaluating whether a defendant is less morally culpable for a crime and perhaps less deserving of punishment...
April 2016: Journal of Law and the Biosciences
https://www.readbyqxmd.com/read/27759030/complete-loss-of-function-of-the-ubiquitin-ligase-herc2-causes-a-severe-neurodevelopmental-phenotype
#12
Fanny Morice-Picard, Giovanni Benard, Hamid R Rezvani, Eulalie Lasseaux, Delphine Simon, Sébastien Moutton, Caroline Rooryck, Didier Lacombe, Clarisse Baumann, Benoit Arveiler
The ubiquitin-proteasome pathway is involved in the pathogenesis of several neurogenetic diseases. We describe a Mauritanian patient harboring a homozygous deletion restricted to two contiguous genes HERC2 and OCA2 and presenting with severe developmental abnormalities. The deletion causes the complete loss of HERC2 protein function, an E3-ubiquitin ligase. HERC2 is known to target XPA and BRCA1 for degradation and a mechanism whereby it is involved in DNA repair and cell cycle regulation. We showed that loss of HERC2 function leads to the accumulation of XPA and BRCA1 in the patient's fibroblasts and generates decreased sensitivity to apoptosis and increased level of DNA repair...
October 19, 2016: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/27752069/neurogenetics-accelerating-towards-mental-illness
#13
Sian Lewis
No abstract text is available yet for this article.
October 18, 2016: Nature Reviews. Neuroscience
https://www.readbyqxmd.com/read/27733599/natural-history-of-sanfilippo-syndrome-type-c-in-boyac%C3%A3-colombia-a-neurogenetic-description
#14
Harvy Mauricio Velasco, Yasmin Sanchez, Angela Milena Martin, Luis A Umaña
Mucopolysaccharidosis type III, or Sanfilippo syndrome, is an autosomal recessive disorder characterized by impairment in the degradation of Heparan sulfate. Here the authors describe the natural history of 5 related individuals; all associated through a large pedigree which reports a total of 11 affected members, originally from the Boyacá region in Colombia, diagnosed with MPS IIIC who all harbor a novel mutation in HGSNAT The authors report an unusually high incidence of the disease in this population. The clinical features are similar to previously described patients, although some differences in the degree of severity and end-stage of the disease are seen in this specific group...
October 12, 2016: Journal of Child Neurology
https://www.readbyqxmd.com/read/27725656/partitioning-heritability-analysis-reveals-a-shared-genetic-basis-of-brain-anatomy-and-schizophrenia
#15
P H Lee, J T Baker, A J Holmes, N Jahanshad, T Ge, J-Y Jung, Y Cruz, D S Manoach, D P Hibar, J Faskowitz, K L McMahon, G I de Zubicaray, N H Martin, M J Wright, D Öngür, R Buckner, J Roffman, P M Thompson, J W Smoller
Schizophrenia is a devastating neurodevelopmental disorder with a complex genetic etiology. Widespread cortical gray matter loss has been observed in patients and prodromal samples. However, it remains unresolved whether schizophrenia-associated cortical structure variations arise due to disease etiology or secondary to the illness. Here we address this question using a partitioning-based heritability analysis of genome-wide single-nucleotide polymorphism (SNP) and neuroimaging data from 1750 healthy individuals...
December 2016: Molecular Psychiatry
https://www.readbyqxmd.com/read/27720749/personalized-learning-from-neurogenetics-of-behaviors-to-designing-optimal-language-training
#16
Patrick C M Wong, Loan Vuong, Kevin Liu
Variability in drug responsivity has prompted the development of Personalized Medicine, which has shown great promise in utilizing genotypic information to develop safer and more effective drug regimens for patients. Similarly, individual variability in learning outcomes has puzzled researchers who seek to create optimal learning environments for students. "Personalized Learning" seeks to identify genetic, neural and behavioral predictors of individual differences in learning and aims to use predictors to help create optimal teaching paradigms...
October 5, 2016: Neuropsychologia
https://www.readbyqxmd.com/read/27697313/treatment-of-neurogenetic-developmental-conditions-from-2016-into-the-future
#17
REVIEW
Clara D M van Karnebeek, Kristin Bowden, Elizabeth Berry-Kravis
BACKGROUND: Neurogenetic developmental conditions represent a heterogeneous group of rare inherited disorders with neurological manifestation during development. Treatments for these conditions have largely been supportive; however, a number of treatments are emerging which target the underlying physiology and offer great potential. Our aim was to present a state-of-the-art overview of the current and potential causal treatments available or under development for neurogenetic developmental conditions...
December 2016: Pediatric Neurology
https://www.readbyqxmd.com/read/27694947/organization-of-olfactory-centres-in-the-malaria-mosquito-anopheles-gambiae
#18
Olena Riabinina, Darya Task, Elizabeth Marr, Chun-Chieh Lin, Robert Alford, David A O'Brochta, Christopher J Potter
Mosquitoes are vectors for multiple infectious human diseases and use a variety of sensory cues (olfactory, temperature, humidity and visual) to locate a human host. A comprehensive understanding of the circuitry underlying sensory signalling in the mosquito brain is lacking. Here we used the Q-system of binary gene expression to develop transgenic lines of Anopheles gambiae in which olfactory receptor neurons expressing the odorant receptor co-receptor (Orco) gene are labelled with GFP. These neurons project from the antennae and maxillary palps to the antennal lobe (AL) and from the labella on the proboscis to the suboesophageal zone (SEZ), suggesting integration of olfactory and gustatory signals occurs in this brain region...
October 3, 2016: Nature Communications
https://www.readbyqxmd.com/read/27692992/neurobiology-of-congenital-amusia
#19
Isabelle Peretz
The past decade of research has provided compelling evidence that musical engagement is a fundamental human trait, and its biological basis is increasingly scrutinized. In this endeavor, the detailed study of individuals who have musical deficiencies is instructive because of likely neurogenetic underpinnings. Such individuals have 'congenital amusia', an umbrella term for lifelong musical disabilities that cannot be attributed to intellectual disability, lack of exposure, or brain damage after birth. Key points are reviewed here that have emerged during recent years regarding the neurobiology of the disorder, focusing on the importance of recurrent processing between the right inferior frontal cortex and the auditory cortex for conscious monitoring of musical pitch, and how this relates to developmental cognitive disorders in general...
September 29, 2016: Trends in Cognitive Sciences
https://www.readbyqxmd.com/read/27662370/brain-basis-of-childhood-speech-and-language-disorders-are-we-closer-to-clinically-meaningful-mri-markers
#20
Angela Morgan, Alexandra Bonthrone, Frédérique J Liégeois
PURPOSE OF REVIEW: Developmental speech and language disorders are common, seen in one in 20 preschool children, in the absence of frank neurological deficits or intellectual impairment. They are a key reason parents seek help from paediatricians. Complex neurogenetic and environmental contributions underpin the disorders, yet few specific causes are known. With the advent of quantitative brain imaging, a growing number of studies have investigated neural contributions. Here, we discuss current MRI approaches and recent findings (January 2014-June 2016) in the field...
September 22, 2016: Current Opinion in Pediatrics
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