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Corpus callosum development

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https://www.readbyqxmd.com/read/28449132/sex-and-diffusion-tensor-imaging-of-white-matter-in-schizophrenia-a-systematic-review-plus-meta-analysis-of-the-corpus-callosum
#1
Saba Shahab, Laura Stefanik, George Foussias, Meng-Chuan Lai, Kelly K Anderson, Aristotle N Voineskos
Sex is considered an understudied variable in health research. Schizophrenia is a brain disorder with known sex differences in epidemiology and clinical presentation. We systematically reviewed the literature for sex-based differences of diffusion properties of white matter tracts in schizophrenia. We then conducted a meta-analysis examining sex-based differences in the genu and splenium of the corpus callosum in schizophrenia. Medline and Embase were searched to identify relevant papers. Studies fulfilling the following criteria were included: (1) included individuals with a diagnosis of schizophrenia, (2) included a control group of healthy individuals, (3) included both sexes in the patient and the control groups, (4) used diffusion tensor imaging, and (5) involved analyzing metrics of white matter microstructural integrity...
April 26, 2017: Schizophrenia Bulletin
https://www.readbyqxmd.com/read/28441825/-progressive-cavitating-leukoencephalopathy-four-cases-and-literatures-review
#2
C H Ren, F Fang, H Cheng, C H Ding, C H Chen, Y J Zhang, D M Shen
Objective: To analyze the clinical and genetic features of progressive cavitating leukoencephalopathy (PCL). Method: The data of clinical and genetic features of 4 PCL patients diagnosed by Beijing Children's Hospital between January 2015 and January 2016 were analyzed. The cases with complete clinical data retrieved on literature search at China National Knowledge Infrastructure, Wanfang Data Knowledge Service Platform and PubMed (up to August 2016) by using search terms of"NDUFV1" ,"NDUFS1" , or"leukoencephalopathy" , were summarized...
April 2, 2017: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
https://www.readbyqxmd.com/read/28422761/topological-length-of-white-matter-connections-predicts-their-rate-of-atrophy-in-premanifest-huntington-s-disease
#3
Peter McColgan, Kiran K Seunarine, Sarah Gregory, Adeel Razi, Marina Papoutsi, Jeffrey D Long, James A Mills, Eileanoir Johnson, Alexandra Durr, Raymund A C Roos, Blair R Leavitt, Julie C Stout, Rachael I Scahill, Chris A Clark, Geraint Rees, Sarah J Tabrizi, The Track-On Hd Investigators
We lack a mechanistic explanation for the stereotyped pattern of white matter loss seen in Huntington's disease (HD). While the earliest white matter changes are seen around the striatum, within the corpus callosum, and in the posterior white matter tracts, the order in which these changes occur and why these white matter connections are specifically vulnerable is unclear. Here, we use diffusion tractography in a longitudinal cohort of individuals yet to develop clinical symptoms of HD to identify a hierarchy of vulnerability, where the topological length of white matter connections between a brain area and its neighbors predicts the rate of atrophy over 24 months...
April 20, 2017: JCI Insight
https://www.readbyqxmd.com/read/28419914/longitudinal-changes-in-pubertal-maturation-and-white-matter-microstructure
#4
Megan M Herting, Robert Kim, Kristina A Uban, Eric Kan, Andrea Binley, Elizabeth R Sowell
Emerging evidence in the field of adolescent neurodevelopment suggests that pubertal processes may contribute to known trajectories of brain maturation, and may contribute, in part, to sex differences in related cognitive, behavioral and mental health outcomes. The current longitudinal study examined how changes in physical pubertal maturation (measured by the Peterson Developmental Scale) predict changes in white matter microstructure in 18 boys and 15 girls over an approximate 2-year follow-up period, while accounting for age...
March 30, 2017: Psychoneuroendocrinology
https://www.readbyqxmd.com/read/28400206/elucidation-of-developmental-patterns-of-marmoset-corpus-callosum-through-a-comparative-mri-in-marmosets-chimpanzees-and-humans
#5
Tomoko Sakai, Yuji Komaki, Junichi Hata, Junko Okahara, Norio Okahara, Takashi Inoue, Akichika Mikami, Mie Matsui, Kenichi Oishi, Erika Sasaki, Hideyuki Okano
The corpus callosum (CC) is present in all primate brains and is the major white matter tract connecting the cerebral hemispheres for integration of sensory, motor and higher-order cognitive information. The midsagittal area of the CC has frequently been used as a sensitive biomarker of brain development. Although the marmoset has been considered as an alternative non-human primate model for neuroscience research, the developmental patterns of the CC have not been explored. The present longitudinal study of magnetic resonance imaging demonstrated that marmosets show a rapid increase of CC during infancy, followed by a slow increase during the juvenile stage, as observed in chimpanzees and humans...
April 8, 2017: Neuroscience Research
https://www.readbyqxmd.com/read/28393272/heterozygous-hnrnpu-variants-cause-early-onset-epilepsy-and-severe-intellectual-disability
#6
Nuria C Bramswig, Hermann-Josef Lüdecke, Fadi F Hamdan, Janine Altmüller, Filippo Beleggia, Nursel H Elcioglu, Catharine Freyer, Erica H Gerkes, Yasemin Kendir Demirkol, Kelly G Knupp, Alma Kuechler, Yun Li, Daniel H Lowenstein, Jacques L Michaud, Kristen Park, Alexander P A Stegmann, Hermine E Veenstra-Knol, Thomas Wieland, Bernd Wollnik, Hartmut Engels, Tim M Strom, Tjitske Kleefstra, Dagmar Wieczorek
Pathogenic variants in genes encoding subunits of the spliceosome are the cause of several human diseases, such as neurodegenerative diseases. The RNA splicing process is facilitated by the spliceosome, a large RNA-protein complex consisting of small nuclear ribonucleoproteins (snRNPs), and many other proteins, such as heterogeneous nuclear ribonucleoproteins (hnRNPs). The HNRNPU gene (OMIM *602869) encodes the heterogeneous nuclear ribonucleoprotein U, which plays a crucial role in mammalian development. HNRNPU is expressed in the fetal brain and adult heart, kidney, liver, brain, and cerebellum...
April 9, 2017: Human Genetics
https://www.readbyqxmd.com/read/28390149/white-matter-developmental-trajectories-associated-with-persistence-and-recovery-of-childhood-stuttering
#7
Ho Ming Chow, Soo-Eun Chang
Stuttering affects the fundamental human ability of fluent speech production, and can have a significant negative impact on an individual's psychosocial development. While the disorder affects about 5% of all preschool children, approximately 80% of them recover naturally within a few years of stuttering onset. The pathophysiology and neuroanatomical development trajectories associated with persistence and recovery of stuttering are still largely unknown. Here, the first mixed longitudinal diffusion tensor imaging (DTI) study of childhood stuttering has been reported...
April 8, 2017: Human Brain Mapping
https://www.readbyqxmd.com/read/28386950/gastrointestinal-disorders-in-curry-jones-syndrome-clinical-and-molecular-insights-from-an-affected-newborn
#8
Kristen Wigby, Stephen R F Twigg, Ryan Broderick, Katherine P Davenport, Andrew O M Wilkie, Stephen W Bickler, Marilyn C Jones
Curry-Jones syndrome (CJS) is a pattern of malformation that includes craniosynostosis, pre-axial polysyndactyly, agenesis of the corpus callosum, cutaneous and gastrointestinal abnormalities. A recurrent, mosaic mutation of SMO (c.1234 C>T; p.Leu412Phe) causes CJS. This report describes the gastrointestinal and surgical findings in a baby with CJS who presented with abdominal obstruction and reviews the spectrum of gastrointestinal malformations in this rare disorder. A 41-week, 4,165 g, female presented with craniosynostosis, pre-axial polysyndactyly, and cutaneous findings consistent with a clinical diagnosis of CJS...
April 6, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28384486/white-matter-microstructure-in-children-with-autistic-traits
#9
Laura M E Blanken, Ryan L Muetzel, Vincent W V Jaddoe, Frank C Verhulst, Aad van der Lugt, Henning Tiemeier, Tonya White
Autism spectrum disorder (ASD) is thought to arise from aberrant development of connections in the brain. Previous studies have identified differences in white matter microstructure in children with ASD, offering support to such hypotheses. While ASD is thought to represent the severe end of a spectrum of traits, there are no studies evaluating white matter microstructure in relation to autistic traits in children from the general population. In a population-based sample of 604 6-to-10 year-old children, we assessed the relation between a continuous measure of autistic traits and white matter microstructure, using both probabilistic tractography and Tract-Based Spatial Statistics (TBSS)...
March 28, 2017: Psychiatry Research
https://www.readbyqxmd.com/read/28382436/environmental-enrichment-reduces-brain-damage-in-hydrocephalic-immature-rats
#10
Carlos Henrique Rocha Catalão, Glaucia Yuri Shimizu, Jacqueline Atsuko Tida, Camila Araújo Bernardino Garcia, Antonio Carlos Dos Santos, Carlos Ernesto Garrido Salmon, Maria José Alves Rocha, Luiza da Silva Lopes
PURPOSE: We investigate the effects of environmental enrichment (EE) on morphological alterations in different brain structures of pup rats submitted to hydrocephalus condition. METHODS: Hydrocephalus was induced in 7-day-old pup rats by injection of 20% kaolin into the cisterna magna. Ventricular dilatation and magnetization transfer to analyze myelin were assessed by magnetic resonance. Hydrocephalic and control rats exposed to EE (n = 10 per group) were housed in cages with a tunnel, ramp, and colored plastic balls that would emit sound when touched...
April 5, 2017: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
https://www.readbyqxmd.com/read/28378817/severe-neurodegeneration-progressive-cerebral-volume-loss-and-diffuse-hypomyelination-associated-with-a-homozygous-frameshift-mutation-in-cstb
#11
Alan Brien, Christian R Marshall, Susan Blaser, Peter N Ray, Grace Yoon
Mutations of the cystatin B gene (CSTB; OMIM 601145) are known to cause Unverricht-Lundborg disease or progressive myoclonic epilepsy-1A (EPM1A, MIM #254800). Most patients are homozygous for an expanded (>30) dodecamer repeat in the promoter region of CSTB, or are compound heterozygotes for the dodecamer repeat and a point mutation. We report two adolescent sisters born to consanguineous parents of Sri Lankan descent who presented with profound global developmental delay, microcephaly, cortical blindness and axial hypotonia with appendicular hypertonia...
April 5, 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28374019/cntnap1-mutations-cause-cns-hypomyelination-and-neuropathy-with-or-without-arthrogryposis
#12
Holger Hengel, Alex Magee, Muhammad Mahanjah, Jean-Michel Vallat, Robert Ouvrier, Mohammad Abu-Rashid, Jamal Mahamid, Rebecca Schüle, Martin Schulze, Ingeborg Krägeloh-Mann, Peter Bauer, Stephan Züchner, Rajech Sharkia, Ludger Schöls
OBJECTIVE: To explore the phenotypic spectrum and pathophysiology of human disease deriving from mutations in the CNTNAP1 gene. METHODS: In a field study on consanguineous Palestinian families, we identified 3 patients carrying homozygous mutations in the CNTNAP1 gene using whole-exome sequencing. An unrelated Irish family was detected by screening the GENESIS database for further CNTNAP1 mutations. Neurophysiology, MRI, and nerve biopsy including electron microscopy were performed for deep phenotyping...
April 2017: Neurology. Genetics
https://www.readbyqxmd.com/read/28363765/investigating-the-link-between-drug-naive-first-episode-psychoses-feps-weight-gain-abnormalities-and-brain-structural-damages-relevance-and-implications-for-therapy
#13
REVIEW
Amedeo Minichino, Agata Ando', Marta Francesconi, Adriana Salatino, Roberto Delle Chiaie, Kristin Cadenhead
Evidence suggests that obesity and overweight may be associated with severe brain structural abnormalities and poor cognitive and functional outcomes in the general population. Despite these observations and the high prevalence of weight gain abnormalities in patients with psychosis spectrum disorders (PSDs), no studies have investigated the impact that these metabolic disturbances may have on brain structures and development in the earliest stages of PSDs. In the present review we shed light on the association between weight gain and brain structural abnormalities that may affect the course of illness in drug-naïve FEPs...
March 29, 2017: Progress in Neuro-psychopharmacology & Biological Psychiatry
https://www.readbyqxmd.com/read/28361913/multi-scale-radiomic-analysis-of-sub-cortical-regions-in-mri-related-to-autism-gender-and-age
#14
Ahmad Chaddad, Christian Desrosiers, Matthew Toews
We propose using multi-scale image textures to investigate links between neuroanatomical regions and clinical variables in MRI. Texture features are derived at multiple scales of resolution based on the Laplacian-of-Gaussian (LoG) filter. Three quantifier functions (Average, Standard Deviation and Entropy) are used to summarize texture statistics within standard, automatically segmented neuroanatomical regions. Significance tests are performed to identify regional texture differences between ASD vs. TDC and male vs...
March 31, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28349996/proteome-dynamics-during-postnatal-mouse-corpus-callosum-development
#15
Alexander I Son, Xiaoqin Fu, Fumikazu Suto, Judy S Liu, Kazue Hashimoto-Torii, Masaaki Torii
Formation of cortical connections requires the precise coordination of numerous discrete phases. This is particularly significant with regard to the corpus callosum, whose development undergoes several dynamic stages including the crossing of axon projections, elimination of exuberant projections, and myelination of established tracts. To comprehensively characterize the molecular events in this dynamic process, we set to determine the distinct temporal expression of proteins regulating the formation of the corpus callosum and their respective developmental functions...
March 28, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28343214/moderate-grade-germinal-matrix-haemorrhage-activates-cell-division-in-the-neonatal-mouse-subventricular-zone
#16
William J Dawes, Xinyu Zhang, Stephen P J Fancy, David Rowitch, Silvia Marino
Precise temporal and spatial control of the neural stem/progenitor cells within the subventricular zone (SVZ) germinal matrix of the brain is important for normal development in the third trimester and the early postnatal period. The high metabolic demands of proliferating germinal matrix precursors, coupled with the flimsy structure of the germinal matrix cerebral vasculature, are thought to account for the high rates of haemorrhage in extremely- and very-low-birth-weight preterm infants. Germinal matrix haemorrhage can commonly extend to intraventricular haemorrhage (IVH)...
March 25, 2017: Developmental Neuroscience
https://www.readbyqxmd.com/read/28337409/network-degeneration-and-dysfunction-in-presymptomatic-c9orf72-expansion-carriers
#17
Suzee E Lee, Ana C Sias, Maria Luisa Mandelli, Jesse A Brown, Alainna B Brown, Anna M Khazenzon, Anna A Vidovszky, Theodore P Zanto, Anna M Karydas, Mochtar Pribadi, Deepika Dokuru, Giovanni Coppola, Dan H Geschwind, Rosa Rademakers, Maria Luisa Gorno-Tempini, Howard J Rosen, Bruce L Miller, William W Seeley
Hexanucleotide repeat expansions in C9ORF72 are the most common known genetic cause of familial and sporadic frontotemporal dementia and amyotrophic lateral sclerosis. Previous work has shown that patients with behavioral variant frontotemporal dementia due to C9ORF72 show salience and sensorimotor network disruptions comparable to those seen in sporadic behavioral variant frontotemporal dementia, but it remains unknown how early in the lifespan these and other changes in brain structure and function arise...
2017: NeuroImage: Clinical
https://www.readbyqxmd.com/read/28328116/brain-morphology-in-children-with-nevoid-basal-cell-carcinoma-syndrome
#18
Tadashi Shiohama, Katsunori Fujii, Toshiyuki Miyashita, Hiromi Mizuochi, Hideki Uchikawa, Naoki Shimojo
Brain morphology is tightly regulated by diverse signaling pathways. Hedgehog signaling is a candidate pathway considered responsible for regulating brain morphology. Nevoid basal cell carcinoma syndrome (NBCCS), caused by a PTCH1 mutation in the hedgehog signaling pathway, occasionally exhibits macrocephaly and medulloblastoma. Although cerebellar enlargement occurs in ptch1 heterozygous-deficient mice, its impact on human brain development remains unknown. We investigated the brain morphological characteristics of children with NBCCS...
April 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28327087/nt5c2-novel-splicing-variant-expands-the-phenotypic-spectrum-of-spastic-paraplegia-spg45-case-report-of-a-new-member-of-thin-corpus-callosum-spg-subgroup
#19
Mahmoud F Elsaid, Khalid Ibrahim, Nader Chalhoub, Ahmed Elsotouhy, Noora El Mudehki, Alice Abdel Aleem
BACKGROUND: Hereditary Spastic Paraplegia (HSP) is a genetically heterogeneous group of neurodegenerative diseases. Thin Corpus Callosum (TCC) associated HSP is a distinguished subgroup of complex forms. Purines and pyrimidine, the basic DNA and RNA components, are regulating the cell metabolism, having roles in signal transduction, energy preservation and cellular repair. Genetic defects in nucleotide metabolism related genes have been only recently implicated in brain and neurodegenerative diseases' pathogenesis...
March 21, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/28320840/k-channel-kv3-4-is-essential-for-axon-growth-by-limiting-the-influx-of-ca-2-into-growth-cones
#20
Chia-Yi Huang, Cheng-Chang Lien, Chau-Fu Cheng, Ting-Yun Yen, Chieh-Ju Chen, Meei-Ling Tsaur
Membrane excitability in the axonal growth cones of embryonic neurons influences axon growth. Voltage-gated K(+) (Kv) channels are key factors in controlling membrane excitability, but whether they regulate axon growth remains unclear. Here, we report that Kv3.4 is expressed in the axonal growth cones of embryonic spinal commissural neurons, motoneurons, dorsal root ganglion neurons, retinal ganglion cells and callosal projection neurons during axon growth. Our in vitro (cultured dorsal spinal neurons of chick embryos) and in vivo (developing chick spinal commissural axons and rat callosal axons) findings demonstrate that knockdown of Kv3...
March 20, 2017: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
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