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Neurodevelopmental diseases

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https://www.readbyqxmd.com/read/28429448/white-matter-microstructure-variations-contribute-to-neurological-soft-signs-in-healthy-adults
#1
Dusan Hirjak, Philipp A Thomann, Robert C Wolf, Katharina M Kubera, Caspar Goch, Jan Hering, Klaus H Maier-Hein
OBJECTIVE: Neurological soft signs (NSS) are core features of psychiatric disorders with significant neurodevelopmental origin. However, it is unclear whether NSS correlates are associated with neuropathological processes underlying the disease or if they are confounded by medication. Given that NSS are also present in healthy persons (HP), investigating HP could reveal NSS correlates, which are not biased by disease-specific processes or drug treatment. Therefore, we used a combination of diffusion MRI analysis tools to provide a framework of specific white matter (WM) microstructure variations underlying NSS in HP...
April 21, 2017: Human Brain Mapping
https://www.readbyqxmd.com/read/28429368/-aralar-agc1-deficiency-a-neurodevelopmental-disorder-with-severe-impairment-of-neuronal-mitochondrial-respiration-does-not-produce-a-primary-increase-in-brain-lactate
#2
Inés Juaristi, María L García-Martin, Tiago B Rodrigues, Jorgina Satrústegui, Irene Llorente-Folch, Beatriz Pardo
ARALAR/AGC1 (aspartate-glutamate mitochondrial carrier 1) is an important component of the NADH malate-aspartate shuttle (MAS). AGC1-deficiency is a rare disease causing global cerebral hypomyelination, developmental arrest, hypotonia, and epilepsy (OMIM ID #612949); the aralar-KO mouse recapitulates the major findings in humans. This study was aimed at understanding the impact of ARALAR-deficiency in brain lactate levels as a biomarker. We report that lactate was equally abundant in wild-type and aralar-KO mouse brain in vivo at PND 17...
April 21, 2017: Journal of Neurochemistry
https://www.readbyqxmd.com/read/28428906/tbc1d24-mutations-in-a-sibship-with-multifocal-polymyoclonus
#3
Adeline Ngoh, Jose Bras, Rita Guerreiro, Amy McTague, Joanne Ng, Esther Meyer, W Kling Chong, Stewart Boyd, Linda MacLellan, Martin Kirkpatrick, Manju A Kurian
BACKGROUND: Advances in molecular genetic technologies have improved our understanding of genetic causes of rare neurological disorders with features of myoclonus. CASE REPORT: A family with two affected siblings, presenting with multifocal polymyoclonus and neurodevelopmental delay, was recruited for whole-exome sequencing following unyielding diagnostic neurometabolic investigations. Compound heterozygous mutations in TBC1D24, a gene previously associated with various epilepsy phenotypes and hearing loss, were identified in both siblings...
2017: Tremor and Other Hyperkinetic Movements
https://www.readbyqxmd.com/read/28427452/modeling-environmental-risk-factors-of-autism-in-mice-induces-ibd-related-gut-microbial-dysbiosis-and-hyperserotonemia
#4
Joon Seo Lim, Mi Young Lim, Yongbin Choi, GwangPyo Ko
Autism spectrum disorder (ASD) is a range of neurodevelopmental conditions that are sharply increasing in prevalence worldwide. Intriguingly, ASD is often accompanied by an array of systemic aberrations including (1) increased serotonin, (2) various modes of gastrointestinal disorders, and (3) inflammatory bowel disease (IBD), albeit the underlying cause for such comorbidities remains uncertain. Also, accumulating number of studies report that the gut microbial composition is significantly altered in children with ASD or patients with IBD...
April 20, 2017: Molecular Brain
https://www.readbyqxmd.com/read/28424591/bcl11b-a-critical-neurodevelopmental-transcription-factor-roles-in-health-and-disease
#5
REVIEW
Matthew J Lennon, Simon P Jones, Michael D Lovelace, Gilles J Guillemin, Bruce J Brew
B cell leukemia 11b (Bcl11b) is a zinc finger protein transcription factor with a multiplicity of functions. It works as both a genetic suppressor and activator, acting directly, attaching to promoter regions, as well as indirectly, attaching to promoter-bound transcription factors. Bcl11b is a fundamental transcription factor in fetal development, with important roles for the differentiation and development of various neuronal subtypes in the central nervous system (CNS). It has been used as a specific marker of layer V subcerebral projection neurons as well as striatal interneurons...
2017: Frontiers in Cellular Neuroscience
https://www.readbyqxmd.com/read/28418023/human-induced-pluripotent-stem-cells-for-modelling-neurodevelopmental-disorders
#6
REVIEW
Karthikeyan Ardhanareeswaran, Jessica Mariani, Gianfilippo Coppola, Alexej Abyzov, Flora M Vaccarino
We currently have a poor understanding of the pathogenesis of neurodevelopmental disorders, owing to the fact that postmortem and imaging studies can only measure the postnatal status quo and offer little insight into the processes that give rise to the observed outcomes. Human induced pluripotent stem cells (hiPSCs) should, in principle, prove powerful for elucidating the pathways that give rise to neurodevelopmental disorders. hiPSCs are embryonic-stem-cell-like cells that can be derived from somatic cells...
April 18, 2017: Nature Reviews. Neurology
https://www.readbyqxmd.com/read/28418018/neurodevelopmental-changes-in-excitatory-synaptic-structure-and-function-in-the-cerebral-cortex-of-sanfilippo-syndrome-iiia-mice
#7
Chrissa A Dwyer, Samantha L Scudder, Ying Lin, Lara E Dozier, Dustin Phan, Nicola J Allen, Gentry N Patrick, Jeffrey D Esko
Sanfilippo syndrome, MPS IIIA-D, results from deficits in lysosomal enzymes that specifically degrade heparan sulfate, a sulfated glycosaminoglycan. The accumulation of heparan sulfate results in neurological symptoms, culminating in extensive neurodegeneration and early death. To study the impact of storage in postnatal neurodevelopment, we examined murine models of MPS IIIA, which lack the enzyme sulfamidase. We show that changes occur in excitatory postsynaptic structure and function in the somatosensory cortex prior to signs of neurodegeneration...
April 18, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28417440/developmental-neurotoxicity-of-traffic-related-air-pollution-focus-on-autism
#8
REVIEW
Lucio G Costa, Yu-Chi Chang, Toby B Cole
PURPOSE OF REVIEW: Epidemiological and animal studies suggest that air pollution may negatively affect the central nervous system (CNS) and contribute to CNS diseases. Traffic-related air pollution is a major contributor to global air pollution, and diesel exhaust (DE) is its most important component. RECENT FINDINGS: Several studies suggest that young individuals may be particularly susceptible to air pollution-induced neurotoxicity and that perinatal exposure may cause or contribute to developmental disabilities and behavioral abnormalities...
April 17, 2017: Current Environmental Health Reports
https://www.readbyqxmd.com/read/28416012/congenital-cytomegalovirus-infection-advances-and-challenges-in-diagnosis-prevention-and-treatment
#9
REVIEW
Concetta Marsico, David W Kimberlin
Cytomegalovirus (CMV) is the most frequent cause of congenital infection worldwide, with an estimated incidence in developing countries of 0.6-0.7% of all live births. The burden of disease related to congenital CMV in substantial, as it is the leading non-genetic cause of sensorineural hearing loss and an important cause of neurodevelopmental disabilities in children. Despite its clinical significance, congenital CMV infection often goes undetected because the majority of infected infants are asymptomatic at birth and screening programs have not been substantially implemented...
April 17, 2017: Italian Journal of Pediatrics
https://www.readbyqxmd.com/read/28404629/braf-signaling-principles-unveiled-by-large-scale-human-mutation-analysis-with-a-rapid-lentivirus-based-gene-replacement-method
#10
Chae-Seok Lim, Xi Kang, Vincent Mirabella, Huaye Zhang, Qian Bu, Yoichi Araki, Elizabeth T Hoang, Shiqiang Wang, Ying Shen, Sukwoo Choi, Bong-Kiun Kaang, Qiang Chang, Zhiping P Pang, Richard L Huganir, J Julius Zhu
Rapid advances in genetics are linking mutations on genes to diseases at an exponential rate, yet characterizing the gene mutation-cell behavior relationships essential for precision medicine remains a daunting task. More than 350 mutations on small GTPase BRaf are associated with various tumors, and ∼40 mutations are associated with the neurodevelopmental disorder cardio-facio-cutaneous syndrome (CFC). We developed a fast cost-effective lentivirus-based rapid gene replacement method to interrogate the physiopathology of BRaf and ∼50 disease-linked BRaf mutants, including all CFC-linked mutants...
March 15, 2017: Genes & Development
https://www.readbyqxmd.com/read/28399055/long-term-visual-and-ocular-sequelae-in-patients-with-congenital-cytomegalovirus-infection
#11
Haoxing Jin, Gail J Demmler-Harrison, David K Coats, Evelyn A Paysse, Amit Bhatt, Jane C Edmond, Kimberly G Yen, Paul Steinkuller, Jerry Miller
BACKGROUND: Cytomegalovirus (CMV) is the most common congenital viral infection in the United States. Visual and ocular sequelae in adolescents and adults who are congenitally infected with CMV have not been well studied. Better understanding of the long-term visual and ocular sequelae can help with early detection, intervention, and appropriate educational accommodations. METHODS: This study evaluated 237 (77 symptomatic, 109 asymptomatic, and 51 control) patients who underwent a series of age-appropriate ophthalmologic, audiologic, and neurodevelopmental examinations from 1982 to 2013...
April 10, 2017: Pediatric Infectious Disease Journal
https://www.readbyqxmd.com/read/28398660/gestational-and-lactational-exposure-to-an-environmentally-relevant-mixture-of-brominated-flame-retardants-effects-on-neurodevelopment-and-metabolism
#12
Emily W Y Tung, Alice Kawata, Marc Rigden, Wayne J Bowers, Don Caldwell, Alison C Holloway, Bernard Robaire, Barbara F Hales, Michael G Wade
BACKGROUND: Developmental exposure to brominated flame retardants (BFRs), including polybrominated diphenyl ethers (PBDEs) and hexabromocyclododecane (HBCDD), has been associated with impaired neurodevelopment and some symptoms of metabolic syndrome. However, there are inconsistencies in studies reporting neurodevelopmental effects with studies of pure substances more likely to report effects than studies of technical products. In addition, the influence of early BFR exposures on later development of metabolic disease-like symptoms has not been investigated...
April 17, 2017: Birth Defects Res
https://www.readbyqxmd.com/read/28396889/gingival-bleeding-in-a-patient-with-autism-spectrum-disorder-a-key-finding-leading-to-a-diagnosis-of-scurvy
#13
Adela Planerova, Sherry Philip, Sharon Elad
Autism spectrum disorder (ASD) is a complex neurodevelopmental disorder that can affect all aspects of life, including nutrition. This case reports a patient with ASD in which gingival bleeding was the key finding that led to a diagnosis of scurvy. The literature review discusses behavioral food aversions in patients with ASD that lead to significant nutritional deficiencies, such as scurvy. Through this case report, the objective is to raise clinical awareness to consider relatively rare diseases in patients with ASD who have atypical feeding patterns...
2017: Quintessence International
https://www.readbyqxmd.com/read/28395077/the-social-security-administration-s-compassionate-allowances-initiative-condition-spotlight-on-rubinstein-taybi-syndrome
#14
Shanna L Burke, Peter Maramaldi
The Social Security Administration (SSA) Compassionate Allowances List (CAL) was created in 2008, generating a mechanism within SSA for identifying diseases and other medical conditions that by definition meet social security's standards for disability benefits. Currently, over 200 conditions are included in this expedited review program, though few of them are neurodevelopmental in nature. Exploration of a novel method for inclusion of additional conditions on CAL was undertaken using one condition as an exemplar...
February 1, 2017: Health & Social Work
https://www.readbyqxmd.com/read/28394231/long-term-neurodevelopmental-outcome-of-children-born-to-prospectively-followed-pregnancies-of-women-with-systemic-lupus-erythematosus-and-or-antiphospholipid-syndrome
#15
C Nalli, A Iodice, L Andreoli, J Galli, A Lojacono, M Motta, E Fazzi, A Tincani
Background Systemic lupus erythematosus (SLE) and antiphospholipid antibody syndrome (APS) are autoimmune diseases that affect women of childbearing age. Maternal IgG antiphospholipid antibodies (aPL) can cross the placenta during pregnancy and theoretically reach the fetal brain. Some studies showed an increased number of learning disabilities in these children. Objectives To evaluate the long-term neurodevelopmental outcome of 40 children (median age 7.4 years) born to mothers with SLE and/or APS carrying positive IgG aPL during the third trimester of pregnancy...
April 2017: Lupus
https://www.readbyqxmd.com/read/28392287/blocked-delayed-or-obstructed-what-causes-poor-white-matter-development-in-intrauterine-growth-restricted-infants
#16
REVIEW
Mary Tolcos, Steven Petratos, Jonathan J Hirst, Flora Wong, Sarah J Spencer, Aminath Azhan, Ben Emery, David W Walker
Poor white matter development in intrauterine growth restricted (IUGR) babies remains a major, untreated problem in neonatology. New therapies, guided by an understanding of the mechanisms that underlie normal and abnormal oligodendrocyte development and myelin formation, are required. Much of our knowledge of the mechanisms that underlie impaired myelination come from studies in adult demyelinating disease, preterm brain injury, or experimental models of hypoxia-ischemia. However relatively less is known for IUGR which is surprising because IUGR is a leading cause of perinatal mortality and morbidity, second only to premature birth...
April 6, 2017: Progress in Neurobiology
https://www.readbyqxmd.com/read/28386624/mutated-pet117-causes-complex-iv-deficiency-and-is-associated-with-neurodevelopmental-regression-and-medulla-oblongata-lesions
#17
G H Renkema, G Visser, F Baertling, L T Wintjes, V M Wolters, J van Montfrans, G A P de Kort, P G J Nikkels, P M van Hasselt, S N van der Crabben, R J T Rodenburg
The genetic basis of the many progressive, multi systemic, mitochondrial diseases that cause a lack of cellular ATP production is heterogeneous, with defects found both in the mitochondrial genome as well as in the nuclear genome. Many different mutations have been found in the genes encoding subunits of the enzyme complexes of the oxidative phosphorylation system. In addition, mutations in genes encoding proteins involved in the assembly of these complexes are known to cause mitochondrial disorders. Here we describe two sisters with a mitochondrial disease characterized by lesions in the medulla oblongata, as demonstrated by brain magnetic resonance imaging, and an isolated complex IV deficiency and reduced levels of individual complex IV subunits...
April 6, 2017: Human Genetics
https://www.readbyqxmd.com/read/28384650/association-of-arhgap18-polymorphisms-with-schizophrenia-in-the-chinese-han-population
#18
Weiyun Guo, Yaqi Cai, Hongxing Zhang, Yongfeng Yang, Ge Yang, Xiujuan Wang, Jingyuan Zhao, Juntang Lin, Jinfu Zhu, Wenqiang Li, Luxian Lv
Numerous developmental genes have been linked to schizophrenia (SZ) by case-control and genome-wide association studies, suggesting that neurodevelopmental disturbances are major pathogenic mechanisms. However, no neurodevelopmental deficit has been definitively linked to SZ occurrence, likely due to disease heterogeneity and the differential effects of various gene variants across ethnicities. Hence, it is critical to examine linkages in specific ethnic populations, such as Han Chinese. The newly identified RhoGAP ARHGAP18 is likely involved in neurodevelopment through regulation of RhoA/C...
2017: PloS One
https://www.readbyqxmd.com/read/28379454/intervention-strategies-for-cesarean-section-induced-alterations-in-the-microbiota-gut-brain-axis
#19
Angela Moya-Pérez, Pauline Luczynski, Ingrid B Renes, Shugui Wang, Yuliya Borre, C Anthony Ryan, Jan Knol, Catherine Stanton, Timothy G Dinan, John F Cryan
Microbial colonization of the gastrointestinal tract is an essential process that modulates host physiology and immunity. Recently, researchers have begun to understand how and when these microorganisms colonize the gut and the early-life factors that impact their natural ecological establishment. The vertical transmission of maternal microbes to the offspring is a critical factor for host immune and metabolic development. Increasing evidence also points to a role in the wiring of the gut-brain axis. This process may be altered by various factors such as mode of delivery, gestational age at birth, the use of antibiotics in early life, infant feeding, and hygiene practices...
April 1, 2017: Nutrition Reviews
https://www.readbyqxmd.com/read/28379373/genetic-and-phenotypic-heterogeneity-suggest-therapeutic-implications-in-scn2a-related-disorders
#20
Markus Wolff, Katrine M Johannesen, Ulrike B S Hedrich, Silvia Masnada, Guido Rubboli, Elena Gardella, Gaetan Lesca, Dorothée Ville, Mathieu Milh, Laurent Villard, Alexandra Afenjar, Sandra Chantot-Bastaraud, Cyril Mignot, Caroline Lardennois, Caroline Nava, Niklas Schwarz, Marion Gérard, Laurence Perrin, Diane Doummar, Stéphane Auvin, Maria J Miranda, Maja Hempel, Eva Brilstra, Nine Knoers, Nienke Verbeek, Marjan van Kempen, Kees P Braun, Grazia Mancini, Saskia Biskup, Konstanze Hörtnagel, Miriam Döcker, Thomas Bast, Tobias Loddenkemper, Lily Wong-Kisiel, Friedrich M Baumeister, Walid Fazeli, Pasquale Striano, Robertino Dilena, Elena Fontana, Federico Zara, Gerhard Kurlemann, Joerg Klepper, Jess G Thoene, Daniel H Arndt, Nicolas Deconinck, Thomas Schmitt-Mechelke, Oliver Maier, Hiltrud Muhle, Beverly Wical, Claudio Finetti, Reinhard Brückner, Joachim Pietz, Günther Golla, Dinesh Jillella, Karen M Linnet, Perrine Charles, Ute Moog, Eve Õiglane-Shlik, John F Mantovani, Kristen Park, Marie Deprez, Damien Lederer, Sandrine Mary, Emmanuel Scalais, Laila Selim, Rudy Van Coster, Lieven Lagae, Marina Nikanorova, Helle Hjalgrim, G Christoph Korenke, Marina Trivisano, Nicola Specchio, Berten Ceulemans, Thomas Dorn, Katherine L Helbig, Katia Hardies, Hannah Stamberger, Peter de Jonghe, Sarah Weckhuysen, Johannes R Lemke, Ingeborg Krägeloh-Mann, Ingo Helbig, Gerhard Kluger, Holger Lerche, Rikke S Møller
Mutations in SCN2A, a gene encoding the voltage-gated sodium channel Nav1.2, have been associated with a spectrum of epilepsies and neurodevelopmental disorders. Here, we report the phenotypes of 71 patients and review 130 previously reported patients. We found that (i) encephalopathies with infantile/childhood onset epilepsies (≥3 months of age) occur almost as often as those with an early infantile onset (<3 months), and are thus more frequent than previously reported; (ii) distinct phenotypes can be seen within the late onset group, including myoclonic-atonic epilepsy (two patients), Lennox-Gastaut not emerging from West syndrome (two patients), and focal epilepsies with an electrical status epilepticus during slow sleep-like EEG pattern (six patients); and (iii) West syndrome constitutes a common phenotype with a major recurring mutation (p...
March 4, 2017: Brain: a Journal of Neurology
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