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Valerio Zerbi, Giovanna D Ielacqua, Marija Markicevic, Matthias Georg Haberl, Mark H Ellisman, Arjun A-Bhaskaran, Andreas Frick, Markus Rudin, Nicole Wenderoth
Autism spectrum disorders (ASD) are a set of complex neurodevelopmental disorders for which there is currently no targeted therapeutic approach. It is thought that alterations of genes regulating migration and synapse formation during development affect neural circuit formation and result in aberrant connectivity within distinct circuits that underlie abnormal behaviors. However, it is unknown whether deviant developmental trajectories are circuit-specific for a given autism risk-gene. We used MRI to probe changes in functional and structural connectivity from childhood to adulthood in Fragile-X (Fmr1-/y) and contactin-associated (CNTNAP2-/-) knockout mice...
July 1, 2018: Cerebral Cortex
Meng-Che Tsai, Chih-Ting Lee, I-Ning Tsai, Shu-Ting Gan, Yi-Lin Liang, Sheng-Hsiang Lin
Minor physical anomalies (MPAs) are associated with disruptions of fetal development. We propose that the same genetic compositions that contribute to the presence of MPAs, also predispose individuals to health-compromising behaviors, thus considering MPAs as particular endophenotypes.We developed a screening questionnaire for problematic conduct, substance abuse, and early sexual practice. A total of 108 adolescents (55 males, 50.9%) aged 11 to 19 years were recruited and further divided into case and control groups according to their answers to the questions of health behaviors mentioned above...
June 2018: Medicine (Baltimore)
Mark F Lenzenweger
The nature and definition of schizotypy, as the latent liability for schizophrenia capable of generating various phenotypic and endophenotypic outcomes, is reviewed. The proceedings of the 2017 meeting of the International Consortium on Schizotypy Research are included in this Special Section and they are presented as illustrations of current research work on schizotypy. The potential leverage of the schizotypy framework for schizophrenia research continues to be realized and these articles present current research efforts that explore new angles of inquiry while building upon past advances...
June 12, 2018: Schizophrenia Bulletin
G Salunkhe, K Weissbrodt, B Feige, C W N Saville, A Berger, N M Dundon, S Bender, N Smyrnis, A Beauducel, M Biscaldi, C Klein
OBJECTIVE: Recent discussions of aetiological overlap between ADHD and Autism Spectrum Disorder (ASD) require comparative studying of these disorders. METHOD: We examined performance of ASD patients with (ASD+) and without (ASD-) comorbid ADHD, ADHD patients, and controls for selected putative endophenotypes of ADHD: Intrasubject Variability (ISV) of reaction times, working memory (WM), inhibition, and temporal processing. RESULTS: We found that patients with ADHD or ASD+, but not ASD-, had elevated ISV across the entire task battery and temporal processing deficits, and that none of the groups were impaired in WM or inhibition...
June 1, 2018: Journal of Attention Disorders
Katharina Bey, Christian Kaufmann, Leonhard Lennertz, Anja Riesel, Julia Klawohn, Stephan Heinzel, Rosa Grützmann, Norbert Kathmann, Michael Wagner
Patients with obsessive-compulsive disorder (OCD) show deficient planning capacity in the Tower of London (TOL) problem solving task. Preliminary evidence for similar deficits in unaffected first-degree relatives suggests that impaired planning may constitute an endophenotype of OCD. However, results on this issue are inconsistent, possibly owing to small sample sizes and variability in problem structure across TOL tasks. Here, we adopted a computerized version of the TOL task featuring a 2 × 2 factorial design (high/low search depth × full/partial tower goal state) and examined a well-characterized sample of n = 72 OCD patients, n = 76 unaffected first-degree relatives and n = 102 healthy comparison subjects...
June 1, 2018: Journal of Anxiety Disorders
Xavier Ekolle Ndode-Ekane, Liz Matthiesen, Ivette Bañuelos-Cabrera, Cátia Alexandra Pêgas Palminha, Asla Pitkänen
BACKGROUND: T-lymphocyte (T-cell) invasion into the brain parenchyma is a major consequence of traumatic brain injury (TBI). However, the role of T-cells in the post-TBI functional outcome and secondary inflammatory processes is unknown. We explored the dynamics of T-cell infiltration into the cortex after TBI to establish whether the infiltration relates to post-injury functional impairment/recovery and progression of the secondary injury. METHOD: TBI was induced in rats by lateral fluid-percussion injury, and the acute functional impairment was assessed using the neuroscore...
June 6, 2018: Restorative Neurology and Neuroscience
Agnieszka Pawełczyk, Emila Łojek, Natalia Żurner, Marta Gawłowska-Sawosz, Tomasz Pawełczyk
The purpose of the study was to examine the presence of pragmatic dysfunctions in first episode (FE) subjects and their healthy first degree relatives as a potential endophenotype for schizophrenia. Thirty-four FE patients, 34 parents of the patients (REL) and 32 healthy controls (HC) took part in the study. Pragmatic language functions were evaluated with the Right Hemisphere Language Battery, attention and executive functions were controlled, as well as age and education level. The parents differed from HC but not from their FE offspring with regard to overall level of language and communication and the general knowledge component of language processing...
May 31, 2018: Psychiatry Research
Chun Chieh Fan, Andrew J Schork, Timothy T Brown, Barbara E Spencer, Natacha Akshoomoff, Chi-Hua Chen, Joshua M Kuperman, Donald J Hagler, Vidar M Steen, Stephanie Le Hellard, Asta Kristine Håberg, Thomas Espeseth, Ole A Andreassen, Anders M Dale, Terry L Jernigan, Eric Halgren
Despite great interest in using magnetic resonance imaging (MRI) for studying the effects of genes on brain structure in humans, current approaches have focused almost entirely on predefined regions of interest and had limited success. Here, we used multivariate methods to define a single neuroanatomical score of how William's Syndrome (WS) brains deviate structurally from controls. The score is trained and validated on measures of T1 structural brain imaging in two WS cohorts (training, n = 38; validating, n = 60)...
June 8, 2018: Translational Psychiatry
Vimal Doshi Veerappan, B Sweetha, H R Kavitha, B Sivalingam, Shanthi Nambi, Leema Pauline
Context: A significant subset of autistic children exhibit abnormal isolated epileptiform discharges (IEDs) in the absence of clinical epilepsy. The etiological significance of such IEDs is under much debate. Aims: The aim is to study the relationship between IEDs with risk factors, clinical severity, behavioral problems, and social-quotient and follow-up for the occurrence of new seizures. Settings and Design: This study was a prospective double-blind comparative study of autistic children with and without IEDs...
May 2018: Indian Journal of Psychological Medicine
Justine Calise, Susana Marquez Renteria, Peter K Gregersen, Betty Diamond
Interferon regulatory factor 5 (IRF5) is widely recognized as a risk locus for systemic lupus erythematosus (SLE). Risk gene and IRF5 activation is triggered through toll-like receptor signaling. In myeloid cells, this leads to production of type I interferon and inflammatory cytokines, with enhanced production in cells of individuals harboring IRF5 risk alleles. Mouse models have also demonstrated the importance of IRF5 in B cell function, particularly plasma cell differentiation and isotype switching. Here, we evaluated the major SLE risk haplotype of IRF5 on the functional attributes of freshly isolated B cells from human subjects who do not have evidence of SLE or other forms of autoimmunity...
2018: Frontiers in Immunology
Giacomo Grassi, Martijn Figee, Pieter Ooms, Lorenzo Righi, Takashi Nakamae, Stefano Pallanti, Rick Schuurman, Damiaan Denys
OBJECTIVE: Impulsivity and impaired decision-making have been proposed as obsessive-compulsive disorder (OCD) endophenotypes, running in OCD and their healthy relatives independently of symptom severity and medication status. Deep brain stimulation (DBS) targeting the ventral limb of the internal capsule (vALIC) and the nucleus accumbens (Nacc) is an effective treatment strategy for treatment-refractory OCD. The effectiveness of vALIC-DBS for OCD has been linked to its effects on a frontostriatal network that is also implicated in reward, impulse control, and decision-making...
June 4, 2018: CNS Spectrums
Marzia A Scelsi, Raiyan R Khan, Marco Lorenzi, Leigh Christopher, Michael D Greicius, Jonathan M Schott, Sebastien Ourselin, Andre Altmann
Identifying genetic risk factors underpinning different aspects of Alzheimer's disease has the potential to provide important insights into pathogenesis. Moving away from simple case-control definitions, there is considerable interest in using quantitative endophenotypes, such as those derived from imaging as outcome measures. Previous genome-wide association studies of imaging-derived biomarkers in sporadic late-onset Alzheimer's disease focused only on phenotypes derived from single imaging modalities. In contrast, we computed a novel multi-modal neuroimaging phenotype comprising cortical amyloid burden and bilateral hippocampal volume...
May 30, 2018: Brain: a Journal of Neurology
Kangguang Lin, Robin Shao, Xiujuan Geng, Kun Chen, Rui Lu, Yanling Gao, Yanan Bi, Weicong Lu, Lijie Guan, Jiehua Kong, Guiyun Xu, Kwok-Fai So
BACKGROUND: Current knowledge on objective and specific neural markers for bipolar risk and resilience-related processes is lacking, partly due to not subdividing high-risk individuals manifesting different levels of subclinical symptoms who possibly possess different levels of resilience. METHODS: We delineated grey matter markers for bipolar illness, genetic high risk (endophenotype) and resilience, through comparing across 42 young non-comorbid bipolar patients, 42 healthy controls, and 72 diagnosis-free, medication-naive high-genetic-risk individuals subdivided into a combined-high-risk group who additionally manifested bipolar risk-relevant subsyndromes (N = 38), and an asymptomatic high-risk group (N = 34)...
May 21, 2018: Journal of Affective Disorders
Vadim Stepanov, Kseniya Vagaitseva, Anna Bocharova, Andrey Marusin, Valentina Markova, Larisa Minaycheva, Oksana Makeeva
Cognitive performance is an important endophenotype for various neurodegenerative and neuropsychiatric traits. In the present study two genetic variants in the leucine-zipper protein (LUZP2) and the F-box 40 protein (FBXO40) genes, previously reported to be genome-wide significant for Alzheimer's diseases and schizophrenia, were examined for an association with cognitive abilities in normal elderly from the Russian population. Rs1021261 in the LUZP2 and rs3772130 in the FBXO40 were genotyped by multiplex PCR and MALDI-TOF mass spectrometry in a sample of 708 normal elderly subjects tested for cognitive performance using the Montreal Cognitive Assessment (MoCA)...
2018: International Journal of Alzheimer's Disease
Monisha A Kumar, Wenjing Cao, Huy P Pham, Dheeraj Raju, Kelsey Nawalinski, Eileen Maloney Wilensky, James M Schuster, X Long Zheng
Traumatic microvascular injury (tMVI) is a universal endophenotype of traumatic brain injury (TBI) that is responsible for significant neurological morbidity and mortality. The mechanism underlying tMVI is not fully understood. The present study aims to determine plasma levels of von Willebrand factor (VWF), a disintegrin and metalloprotease with thrombospondin type 1 repeats (ADAMTS)-13 activity, and human neutrophil peptides (HNP) 1-3 and to correlate these biomarkers with functional outcomes following moderate-severe TBI...
May 31, 2018: Journal of Neurotrauma
Marie Ryan, Mark Heverin, Mark A Doherty, Nicola Davis, Emma M Corr, Alice Vajda, Niall Pender, Russell McLaughlin, Orla Hardiman
Objective: To assess temporal trends in familial amyotrophic lateral sclerosis (FALS) incidence rates in an Irish population and to determine factors influencing FALS ascertainment. Methods: Population-based data collected over 23 years, using the Irish amyotrophic lateral sclerosis (ALS) register and DNA biobank, were analyzed and age-standardized rates of FALS and associated familial neuropsychiatric endophenotypes were identified. Results: Between 1994 and 2016, 269 patients with a family history of ALS from 197 unique families were included on the register...
June 2018: Neurology. Genetics
Vinod Jangir Kumar, Nicola M Grissom, Sarah E McKee, Hannah Schoch, Nicole Bowman, Robbert Havekes, Manoj Kumar, Stephen Pickup, Harish Poptani, Teresa M Reyes, Mike Hawrylycz, Ted Abel, Thomas Nickl-Jockschat
Neurodevelopmental disorders, such as ASD and ADHD, affect males about three to four times more often than females. 16p11.2 hemideletion is a copy number variation that is highly associated with neurodevelopmental disorders. Previous work from our lab has shown that a mouse model of 16p11.2 hemideletion (del/+) exhibits male-specific behavioral phenotypes. We, therefore, aimed to investigate with magnetic resonance imaging (MRI), whether del/+ animals also exhibited a sex-specific neuroanatomical endophenotype...
May 29, 2018: Translational Psychiatry
Sara Mostafavi, Chris Gaiteri, Sarah E Sullivan, Charles C White, Shinya Tasaki, Jishu Xu, Mariko Taga, Hans-Ulrich Klein, Ellis Patrick, Vitalina Komashko, Cristin McCabe, Robert Smith, Elizabeth M Bradshaw, David E Root, Aviv Regev, Lei Yu, Lori B Chibnik, Julie A Schneider, Tracy L Young-Pearse, David A Bennett, Philip L De Jager
There is a need for new therapeutic targets with which to prevent Alzheimer's disease (AD), a major contributor to aging-related cognitive decline. Here we report the construction and validation of a molecular network of the aging human frontal cortex. Using RNA sequence data from 478 individuals, we first build a molecular network using modules of coexpressed genes and then relate these modules to AD and its neuropathologic and cognitive endophenotypes. We confirm these associations in two independent AD datasets...
June 2018: Nature Neuroscience
Xiao Sun, Zhaomin Wu, Qingjiu Cao, Ying Qian, Yong Liu, Binrang Yang, Suhua Chang, Li Yang, Yufeng Wang
As a childhood-onset psychiatric disorder, attention deficit hyperactivity disorder (ADHD) is complicated by phenotypic and genetic heterogeneity. Lifelong executive function deficits in ADHD are described in many literatures and have been proposed as endophenotypes of ADHD. However, its genetic basis is still elusive. In this study, we performed a genome-wide association study of executive function, rated with Behavioral Rating Inventory of Executive Function (BRIEF), in ADHD children. We identified one significant variant (rs852004, P = 2...
May 16, 2018: Scientific Reports
Michael C Saul, Sharon A Stevenson, Changjiu Zhao, Terri M Driessen, Brian E Eisinger, Stephen C Gammie
Contemporary rodent models for bipolar disorders split the bipolar spectrum into complimentary behavioral endophenotypes representing mania and depression. Widely accepted mania models typically utilize single gene transgenics or pharmacological manipulations, but inbred rodent strains show great potential as mania models. Their acceptance is often limited by the lack of genotypic data needed to establish construct validity. In this study, we used a unique strategy to inexpensively explore and confirm population allele differences in naturally occurring candidate variants in a manic rodent strain, the Madison (MSN) mouse strain...
2018: PloS One
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