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https://www.readbyqxmd.com/read/29343559/a-genetic-locus-for-paranoia
#1
Bernard Crespi, Silven Read, Iiro Salminen, Peter Hurd
The psychological effects of brain-expressed imprinted genes in humans are virtually unknown. Prader-Willi syndrome (PWS) is a neurogenetic condition mediated by genomic imprinting, which involves high rates of psychosis characterized by hallucinations and paranoia, as well as autism. Altered expression of two brain-expressed imprinted genes, MAGEL2 and NDN, mediates a suite of PWS-related phenotypes, including behaviour, in mice. We phenotyped a large population of typical individuals for schizophrenia-spectrum and autism-spectrum traits, and genotyped them for the single-nucleotide polymorphism rs850807, which is putatively functional and linked with MAGEL2 and NDN Genetic variation in rs850807 was strongly and exclusively associated with the ideas of reference subscale of the schizophrenia spectrum, which is best typified as paranoia...
January 2018: Biology Letters
https://www.readbyqxmd.com/read/29325619/clinical-approach-to-the-patient-with-neurogenetic-disease
#2
Thomas D Bird, Corrie O Smith
Neurogenetic diseases are surprisingly common. This chapter reviews a systematic approach to the evaluation of a patient thought to have such a disease. The emphasis is on first recognizing potential clues to the diagnosis contained in the family history and presentation of symptoms. Ataxia, neuropathy, muscle weakness, dementia, epilepsy, and cognitive delay are all "reservoirs" of neurogenetic disease. A high index of suspicion for genetic causes and a thoughtful evaluation of simplex (sporadic) cases is often necessary...
2018: Handbook of Clinical Neurology
https://www.readbyqxmd.com/read/29325614/ethical-issues-in-neurogenetics
#3
Wendy R Uhlmann, J Scott Roberts
Many neurogenetic conditions are inherited and therefore diagnosis of a patient will have implications for the patient's relatives and can raise ethical issues. Predictive genetic testing offers asymptomatic relatives the opportunity to determine their risk status for a neurogenetic condition, and professional guidelines emphasize patients' autonomy and informed, voluntary decision making. Beneficence and nonmaleficence both need to be considered when making decisions about disclosure and nondisclosure of genetic information and test results...
2018: Handbook of Clinical Neurology
https://www.readbyqxmd.com/read/29325611/autosomal-recessive-cerebellar-ataxias
#4
Brent L Fogel
The autosomal-recessive cerebellar ataxias comprise more than half of the known genetic forms of ataxia and represent an extensive group of clinically heterogeneous disorders that can occur at any age but whose onset is typically prior to adulthood. In addition to ataxia, patients often present with polyneuropathy and clinical symptoms outside the nervous system. The most common of these diseases is Friedreich ataxia, caused by mutation of the frataxin gene, but recent advances in genetic analysis have greatly broadened the ever-expanding number of causative genes to over 50...
2018: Handbook of Clinical Neurology
https://www.readbyqxmd.com/read/29249377/history-and-current-difficulties-in-classifying-inherited-myopathies-and-muscular-dystrophies
#5
Stéphane Mathis, Meriem Tazir, Laurent Magy, Fanny Duval, Gwendal Le Masson, Mathilde Duchesne, Philippe Couratier, Karima Ghorab, Guilhem Solé, Idoia Lacoste, Cyril Goizet, Jean-Michel Vallat
The wide spectrum of hereditary muscular disorders leads to unavoidable difficulties in their classification, even for specialists. For this reason, new proposals are required that would ultimately replace our current rather complex classifications by a simpler structure. Our proposal will be limited to dystrophic and non-dystrophic myopathies (excluding metabolic disorders, mitochondriopathies, and channelopathies) for which similar proposals would also be relevant. Various genes (encoding structural proteins associated with the sarcolemma, nuclear membrane proteins, and proteins involved in myofiber metabolism have now been sequenced and mutations ascribed to specific forms of inherited muscular disorders...
January 15, 2018: Journal of the Neurological Sciences
https://www.readbyqxmd.com/read/29248021/heightened-connectivity-between-the-ventral-striatum-and-medial-prefrontal-cortex-as-a-biomarker-for-stress-related-psychopathology-understanding-interactive-effects-of-early-and-more-recent-stress
#6
Jamie L Hanson, Annchen R Knodt, Bartholomew D Brigidi, Ahmad R Hariri
BACKGROUND: The experience of childhood maltreatment is a significant risk factor for the development of depression. This risk is particularly heightened after exposure to additional, more contemporaneous stress. While behavioral evidence exists for this relation, little is known about biological correlates of these stress interactions. Identifying such correlates may provide biomarkers of risk for later depression. METHODS: Here, we leverage behavioral, experiential, and neuroimaging data from the Duke Neurogenetics Study to identify potential biomarkers of stress exposure...
December 18, 2017: Psychological Medicine
https://www.readbyqxmd.com/read/29236826/hereditary-spastic-paraplegia-from-1880-to-2017-an-historical-review
#7
Ingrid Faber, Eduardo Rafael Pereira, Alberto R M Martinez, Marcondes França, Hélio Afonso Ghizoni Teive
The authors have constructed a brief timeline of major clinical research related to hereditary spastic paraplegia (HSP). This timeline summarizes the evolution of HSP research, from the first clinical descriptions by Adolf von Strümpell in 1880 to the present day, with the transformation of these diseases into a rapidly-growing and heterogeneous group of neurogenetic diseases.
November 2017: Arquivos de Neuro-psiquiatria
https://www.readbyqxmd.com/read/29233723/the-different-faces-of-the-p-a53t-alpha-synuclein-mutation-a-screening-of-greek-patients-with-parkinsonism-and-or-dementia
#8
Marianthi Breza, Georgios Koutsis, Georgia Karadima, Constantin Potagas, Chrisoula Kartanou, Sokratis G Papageorgiou, George P Paraskevas, Elisabeth Kapaki, Leonidas Stefanis, Marios Panas
BACKGROUND: The p. A53T mutation in the alpha-synuclein (SNCA) gene is a rare cause of autosomal dominant Parkinson's disease (PD). Although generally rare, it is particularly common in the Greek population due to a founder effect. A53T-positive PD patients often develop dementia during disease course and may very rarely present with dementia. METHODS: We screened for the p. A53T SNCA mutation a total of 347 cases of Greek origin with parkinsonism and/or dementia, collected over 15 years at the Neurogenetics Unit, Eginition Hospital, University of Athens...
December 9, 2017: Neuroscience Letters
https://www.readbyqxmd.com/read/29222831/a-review-of-structural-brain-abnormalities-in-pallister-killian-syndrome
#9
Cathryn Poulton, Gareth Baynam, Clarissa Yates, Hamid Alinejad-Rokny, Simon Williams, Helen Wright, Karen J Woodward, Soruba Sivamoorthy, Joanne Peverall, Peter Shipman, David Ravine, John Beilby, Julian Ik-Tsen Heng
BACKGROUND: Pallister-Killian syndrome (PKS) is a rare multisystem developmental syndrome usually caused by mosaic tetrasomy of chromosome 12p that is known to be associated with neurological defects. METHODS: We describe two patients with PKS, one of whom has bilateral perisylvian polymicrogyria (PMG), the other with macrocephaly, enlarged lateral ventricles and hypogenesis of the corpus callosum. We have also summarized the current literature describing brain abnormalities in PKS...
December 9, 2017: Molecular Genetics & Genomic Medicine
https://www.readbyqxmd.com/read/29185864/novel-mutation-in-the-human-hprt1-gene-and-the-lesch-nyhan-disease
#10
Khue Vu Nguyen, 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 a novel point mutation that led to HGprt-related neurological dysfunction (HND) in a family in which there was a missense mutation in exon 6 of the coding region of the HPRT1 gene: g.34938G>T, c.403G>T, p.D135Y. Molecular diagnosis is consistent with the genetic heterogeneity of the HPRT1 gene responsible for HGprt deficiency...
November 2, 2017: Nucleosides, Nucleotides & Nucleic Acids
https://www.readbyqxmd.com/read/29171993/prevalence-of-delirium-in-a-population-of%C3%A2-elderly-outpatients-with-dementia-a%C3%A2-retrospective-study
#11
Desirée Addesi, Raffaele Maio, Nicoletta Smirne, Valentina Laganà, Natalia Altomari, Gianfranco Puccio, Rosanna Colao, Chiara Cupidi, Francesco Perticone, Amalia Cecilia Bruni
BACKGROUND: Delirium is a multifactorial geriatric syndrome and often occurs in patients with cognitive impairment. It also remains under-recognized, specifically in elderly outpatients, because signs of delirium might overlap with symptoms of dementia. OBJECTIVE: The aim of the present study is to retrospectively apply the chart-based delirium instrument on a cohort of elderly outpatients with dementia, to assess prevalence and features of delirium in this population...
November 20, 2017: Journal of Alzheimer's Disease: JAD
https://www.readbyqxmd.com/read/29164503/developing-the-field-of-neurogenetics
#12
EDITORIAL
Ulrich Müller, Georg Auburger, Manuel B Graeber, Louis J Ptacek
No abstract text is available yet for this article.
November 21, 2017: Neurogenetics
https://www.readbyqxmd.com/read/29143198/the-effect-of-parental-age-on-nf1-patients-in-turkey
#13
P Sharafi, B Anlar, S Ersoy-Evans, A Varan, O F Yılmaz, M Turan, S Ayter
Neurofibromatosis type 1 (NF1) is the most common neurogenetic disorder worldwide, and its clinical presentations are highly variable. NF1 is caused by mutations in the NF1 gene, and 50% of NF1 cases are sporadic, which occur in the absence of a family history of the disease and usually result from a new mutation in the germline of a parent. Advanced paternal age may increase the risk for germinal NF1 mutations; however, some dominant conditions, including neurofibromatosis, have shown a lesser association with paternal age, although there are conflicting reports in the literature...
November 15, 2017: Journal of Community Genetics
https://www.readbyqxmd.com/read/29141125/elevated-proinflammatory-markers-in-22q11-2-deletion-syndrome-are-associated-with-psychosis-and-cognitive-deficits
#14
Ehud Mekori-Domachevsky, Michal Taler, Yehuda Shoenfeld, Michael Gurevich, Polina Sonis, Omri Weisman, Abraham Weizman, Doron Gothelf
OBJECTIVE: 22q11.2 deletion syndrome (22q11.2DS) is a neurogenetic disorder whose phenotype includes high rates of a schizophrenia-like psychotic disorder and immune system abnormalities. Thus, 22q11.2DS is an ideal model for studying the relationship between psychosis and inflammation. The aim of the present study was to identify inflammatory markers that may play a role in the pathophysiologic pathways associated with psychosis and cognitive deficits in 22q11.2DS. METHODS: Forty-nine individuals with 22q11...
November 14, 2017: Journal of Clinical Psychiatry
https://www.readbyqxmd.com/read/29125005/neurogenetics-in-spain
#15
Alberto Ferrús
No abstract text is available yet for this article.
November 10, 2017: Journal of Neurogenetics
https://www.readbyqxmd.com/read/29109241/optogenetic-activation-of-the-fruitless-labeled-circuitry-in-drosophila-subobscura-males-induces-mating-motor-acts
#16
Ryoya Tanaka, Tomohiro Higuchi, Soh Kohatsu, Kosei Sato, Daisuke Yamamoto
It remains an enigma how the nervous system of different animal species produces different behaviors. We studied the neural circuitry for mating behavior in Drosophila subobscura, a species that displays unique courtship actions not shared by other members of the genera including the genetic model D. melanogaster, in which the core courtship circuitry has been identified. We disrupted the D. subobscurafruitless (fru) gene, a master regulator for the courtship circuitry formation in D. melanogaster, resulting in complete loss of mating behavior...
November 6, 2017: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/29096777/efficacy-and-safety-of-pediatric-prolonged-release-melatonin-for-insomnia-in-children-with-autism-spectrum-disorder
#17
Paul Gringras, Tali Nir, John Breddy, Anat Frydman-Marom, Robert L Findling
OBJECTIVE: To assess the efficacy and safety of novel pediatric-appropriate, prolonged-release melatonin minitablets (PedPRM) versus placebo for insomnia in children and adolescents with autism spectrum disorder (ASD), with or without attention-deficit/hyperactivity disorder (ADHD) comorbidity, and neurogenetic disorders (NGD). METHOD: A total of 125 children and adolescents (2-17.5 years of age; 96.8% ASD, 3.2% Smith-Magenis syndrome [SMS]) whose sleep failed to improve on behavioral intervention alone were randomized (1:1 ratio), double-blind, to receive PedPRM (2 mg escalated to 5 mg) or placebo for 13 weeks...
November 2017: Journal of the American Academy of Child and Adolescent Psychiatry
https://www.readbyqxmd.com/read/29070634/six-legged-walking-in-insects-how-cpgs-peripheral-feedback-and-descending-signals-generate-coordinated-and-adaptive-motor-rhythms
#18
Salil Sanjay Bidaye, Till Bockemühl, Ansgar Büschges
Walking is a rhythmic locomotor behavior of legged animals and its underlying mechanisms have been the subject of neurobiological research for more than 100 years. In this article, we review relevant historical aspects and contemporary studies in this field of research with a particular focus on the role of central pattern generating networks (CPGs) and their role in the generation of the six-legged walking in insects. Aspects of importance are the generation of single leg stepping, the generation of interleg coordination, and how descending signals influence walking...
October 25, 2017: Journal of Neurophysiology
https://www.readbyqxmd.com/read/29057378/systems-biology-in-the-central-nervous-system-a-brief-perspective-on-essential-recent-advancements
#19
Joseph D Dougherty, Chengran Yang, Allison M Lake
As recent advances in human genetics have begun to more rapidly identify the individual genes contributing to risk of psychiatric disease, the spotlight now turns to understanding how disruption of these genes alters the brain, and thus behavior. Compared to other tissues, cellular complexity in the brain provides both a substantial challenge and a significant opportunity for systems biology approaches. Current methods are maturing that will allow for finally defining the 'parts list' for the functioning mouse and human brains, enabling new approaches to defining how the system goes awry in disorders of the CNS...
June 2017: Current Opinion in Systems Biology
https://www.readbyqxmd.com/read/29048724/longitudinal-perspectives-on-the-psychosis-spectrum-in-22q11-2-deletion-syndrome
#20
REVIEW
Sunny X Tang, Raquel E Gur
The prevalence of psychotic disorders in individuals with 22q11.2 Deletion Syndrome (22q11DS) reaches 25-35% in young adulthood and may provide a neurogenetic model for clinical risk of psychotic disorders in the general population. This review focuses on prospective longitudinal studies in 22q11DS, which capture fluctuations in psychosis symptoms over time and may provide insights into potential demographic, clinical, cognitive, and neuroimaging predictors of psychosis-spectrum outcomes in the general population...
October 19, 2017: American Journal of Medical Genetics. Part A
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