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Absent corpus callosum

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https://read.qxmd.com/read/30737808/brain-imaging-in-classic-nonketotic-hyperglycinemia-quantitative-analysis-and-relation-to-phenotype
#1
Nicholas V Stence, Laura Z Fenton, Claire Levek, Suhong Tong, Curtis R Coughlin Ii, Julia B Hennermann, Saskia B Wortmann, Johan L K Van Hove
OBJECTIVE: Patients with severe nonketotic hyperglycinemia have absent psychomotor development and intractable epilepsy, whereas attenuated patients have variable psychomotor development and absent or treatable epilepsy; differences in brain MRI between phenotypes have not been reported. METHODS: In a retrospective cross-sectional study, we reviewed 38 MRI studies from 24 molecularly proven nonketotic hyperglycinemia patients, and two transient nonketotic hyperglycinemia patients...
February 9, 2019: Journal of Inherited Metabolic Disease
https://read.qxmd.com/read/30735241/pathology-of-white-matter-integrity-in-three-major-white-matter-fasciculi-a-postmortem-study-of-schizophrenia-and-treatment-status
#2
Kirsten E Schoonover, Charlene B Farmer, Andrew E Cash, Rosalinda C Roberts
BACKGROUND AND AIMS: Imaging studies have shown that people with schizophrenia exhibit abnormal connectivity termed "dysconnectivity" in several white matter tracts, including the cingulum bundle (CB), corpus callosum (CC), and arcuate fasciculus (AF). This study aimed to elucidate potential contributors to schizophrenia "dysconnectivity." EXPERIMENTAL APPROACH: This study used Western blot analysis to compare protein levels of myelin basic protein (MBP), neurofilament heavy (NFH), autophagosome marker LC3, and microtubule marker α-tubulin in postmortem human CB, CC, AF in schizophrenia subjects (SZ; n=16) and matched controls (NC; n=15)...
February 8, 2019: British Journal of Pharmacology
https://read.qxmd.com/read/30704335/%C3%AE-tubulinopathy-caused-by-a-mutation-of-the-tubb2b-gene-magnetic-resonance-imaging-findings-of-the-brain
#3
Juliana Jimenez, Diego A Herrera, Sergio A Vargas, Jorge Montoya, Mauricio Castillo
Patients with mutations in tubulin-related genes usually present with brain malformations, intellectual disability, epilepsy, microcephaly and ocular abnormalities. In these patients the diagnosis can be suggested by neuroimaging findings. We report a 5-year-old patient with characteristic magnetic resonance imaging findings including malformation of cortical development, fused basal ganglia, large head of the caudate nuclei, absent anterior limbs of the internal capsules, corpus callosum dysgenesis and dysplastic cerebellar vermis...
February 1, 2019: Neuroradiology Journal
https://read.qxmd.com/read/30635494/leukoencephalopathy-due-to-variants-in-gfpt1-associated-congenital-myasthenic-syndrome
#4
Guy Helman, Suvasini Sharma, Joanna Crawford, Bijoy Patra, Puneet Jain, Stephen J Bent, J Andoni Urtizberea, Ravindra K Saran, Ryan J Taft, Marjo S van der Knaap, Cas Simons
OBJECTIVE: To determine the molecular etiology of disease in 4 individuals from 2 unrelated families who presented with proximal muscle weakness and features suggestive of mitochondrial disease. METHODS: Clinical information and neuroimaging were reviewed. Genome sequencing was performed on affected individuals and biological parents. RESULTS: All affected individuals presented with muscle weakness and difficulty walking. In one family, both children had neonatal respiratory distress while the other family had 2 children with episodic deteriorations...
January 11, 2019: Neurology
https://read.qxmd.com/read/30537274/new-pachygyria-syndrome-linked-to-actin-regulation-identified-when-mutated-ctnna2-leads-to-a-new-form-of-pachygyria-that-has-a-diffuse-anterior-posterior-gradient-with-cerebellar-hypoplasia-thinning-corpus-callosum-and-absent-anterior-commissure
#5
https://read.qxmd.com/read/30485540/defined-astrocytic-expression-of-human-amyloid-precursor-protein-in-tg2576-mouse-brain
#6
Tina Heiland, Ulrike Zeitschel, Maja A Puchades, Peer-Hendrik Kuhn, Stefan F Lichtenthaler, Jan G Bjaalie, Maike Hartlage-Rübsamen, Steffen Roßner, Corinna Höfling
Transgenic Tg2576 mice expressing human amyloid precursor protein (hAPP) with the Swedish mutation are among the most frequently used animal models to study the amyloid pathology related to Alzheimer's disease (AD). The transgene expression in this model is considered to be neuron-specific. Using a novel hAPP-specific antibody in combination with cell type-specific markers for double immunofluorescent labelings and laser scanning microscopy, we here report that-in addition to neurons throughout the brain-astrocytes in the corpus callosum and to a lesser extent in neocortex express hAPP...
November 28, 2018: Glia
https://read.qxmd.com/read/30262641/expanding-the-distinctive-neuroimaging-phenotype-of-acta2-mutations
#7
F D'Arco, C A Alves, C Raybaud, W K K Chong, G E Ishak, S Ramji, M Grima, A J Barkovich, V Ganesan
BACKGROUND AND PURPOSE: Arg179His mutations in ACTA2 are associated with a distinctive neurovascular phenotype characterized by a straight course of intracranial arteries, absent basal Moyamoya collaterals, dilation of the proximal internal carotid arteries, and occlusive disease of the terminal internal carotid arteries. We now add to the distinctive neuroimaging features in these patients by describing their unique constellation of brain malformative findings that could flag the diagnosis in cases in which targeted cerebrovascular imaging has not been performed...
September 27, 2018: AJNR. American Journal of Neuroradiology
https://read.qxmd.com/read/30153674/incidental-findings-on-brain-magnetic-resonance-imaging-in-preterm-infants
#8
Ashok Buchiboyina, Chi Seong Andrew Yip, Sirisha Madhala, Sanjay Patole
BACKGROUND: In recent years, many neonatal intensive care units have adopted the practice of routinely performing brain magnetic resonance imaging (MRI) of extremely preterm (EP) infants at term-equivalent age (TEA). This practice may result in increased identification of incidental findings (IF). OBJECTIVES: To determine the prevalence and clinical significance of incidental findings on routine MRI of EP infants. METHODS: We retrospectively reviewed findings on routine brain MRI on 165 EP infants at TEA (gestation < 28 weeks) admitted between June 2015 and December 2017...
August 28, 2018: Neonatology
https://read.qxmd.com/read/30105121/an-interesting-and-unique-case-of-8p23-3p23-1-deletion-and-8p23-1p11-1-interstitial-duplication-syndrome
#9
Vivek Kumar, Shuvendu Roy, Gaurav Kumar
We report an interesting case of a male toddler with global developmental delay, dysmorphic facies, seizures, and acyanotic heart disease. Detailed evaluation revealed absent corpus callosum with large doubly committed ventricular septal defect (VSD) and 8p23.3p23.1 deletion and 8p23.1p11.1 interstitial duplication syndrome. In comparison to similar reports of 8p deletion and inverted duplication syndrome, the uniqueness of this report lies in the fact that the congenital heart defect occurred without the GATA4 gene involvement, and the nervous system involvement was more extensive...
September 2018: Journal of Pediatric Genetics
https://read.qxmd.com/read/29873041/g-protein-coupled-receptor-gpr17-expression-in-two-multiple-sclerosis-remyelination-models
#10
Stella Nyamoya, Patrizia Leopold, Birte Becker, Cordian Beyer, Fabian Hustadt, Christoph Schmitz, Anne Michel, Markus Kipp
In multiple sclerosis patients, demyelination is prominent in both the white and gray matter. Chronic clinical deficits are known to result from acute or chronic injury to the myelin sheath and inadequate remyelination. The underlying molecular mechanisms of remyelination and its failure remain currently unclear. Recent studies have recognized G protein-coupled receptor 17 (GPR17) as an important regulator of oligodendrocyte development and remyelination. So far, the relevance of GPR17 for myelin repair was mainly tested in remyelinating white matter lesions...
June 5, 2018: Molecular Neurobiology
https://read.qxmd.com/read/29779901/white-matter-disruptions-in-patients-with-bipolar-disorder
#11
Lucija Abramovic, Marco P M Boks, Annabel Vreeker, Sanne Verkooijen, Annet H van Bergen, Roel A Ophoff, René S Kahn, Neeltje E M van Haren
Bipolar disorder (BD) patients show aberrant white matter microstructure compared to healthy controls but little is known about the relation with clinical characteristics. We therefore investigated the relation of white matter microstructure with the main pharmacological treatments as well its relation with IQ. Patients with BD (N = 257) and controls (N = 167) underwent diffusion tensor imaging (DTI) and comprehensive clinically assessments including IQ estimates. DTI images were analyzed using tract-based spatial statistics...
June 2018: European Neuropsychopharmacology: the Journal of the European College of Neuropsychopharmacology
https://read.qxmd.com/read/29664449/neurometabolic-disorders-and-congenital-malformations-of-the-central-nervous-system
#12
Ahmed Y BoAli, Majid Alfadhel, Brahim Tabarki
Both malformations of the central nervous system and neurometabolic disorders are common, mainly in highly consanguineous populations. Both metabolic pathways and developmental pathways are closely related and interact with each other. Neurometabolic disorders can lead to disturbances in brain development through multiple mechanisms that include deficits in energy metabolism, critical nutrient deficiency, accumulation of neurotoxic substrates, abnormality in cell membrane constituents, and interference in cell-to-cell signaling pathways...
April 2018: Neurosciences: the Official Journal of the Pan Arab Union of Neurological Sciences
https://read.qxmd.com/read/29618326/a-novel-homozygous-mutation-in-polr3a-gene-causing-4h-syndrome-a-case-report
#13
Vishal V Tewari, Ritu Mehta, C M Sreedhar, Kunal Tewari, Akbar Mohammad, Neerja Gupta, Sheffali Gulati, Madhulika Kabra
BACKGROUND: 4H syndrome is a congenital hypomyelinating leukodystrophy characterized by hypodontia, hypomyelination and hypogonadotropic hypogonadism belonging to the Pol III-related leukodystrophies which arise due to mutations in the POLR3A or POLR3B gene. The clinical presentation is of neurodevelopmental delay or regression with ataxia, dystonia, nystagmus, delayed deciduous dentition and abnormal order of eruption of teeth. MRI brain shows a characteristic hypomyelination pattern...
April 4, 2018: BMC Pediatrics
https://read.qxmd.com/read/29571075/elevated-body-mass-index-is-associated-with-reduced-white-matter-integrity-in-two-large-independent-cohorts
#14
Jonathan Repple, Nils Opel, Susanne Meinert, Ronny Redlich, Tim Hahn, Nils R Winter, Claas Kaehler, Daniel Emden, Ramona Leenings, Dominik Grotegerd, Dario Zaremba, Christian Bürger, Katharina Förster, Katharina Dohm, Verena Enneking, Elisabeth J Leehr, Joscha Böhnlein, Greta Karliczek, Walter Heindel, Harald Kugel, Jochen Bauer, Volker Arolt, Udo Dannlowski
Obesity has been associated with a variety of neurobiological alterations. Recent neuroimaging research has pointed to the relevance of brain structural and functional alterations in the development of obesity. However, while the role of gray matter atrophy in obesity has been evidenced in several well powered studies, large scale evidence for altered white matter integrity in obese subjects is still absent. With this study, we therefore aimed to investigate potential associations between white matter abnormalities and body mass index (BMI) in two large independent samples of healthy adults...
May 2018: Psychoneuroendocrinology
https://read.qxmd.com/read/29463858/clinical-and-genetic-spectrum-of-ampd2-related-pontocerebellar-hypoplasia-type-9
#15
Fanny Kortüm, Rami Abou Jamra, Malik Alawi, Susan A Berry, Guntram Borck, Katherine L Helbig, Sha Tang, Dagmar Huhle, Georg Christoph Korenke, Malavika Hebbar, Anju Shukla, Katta M Girisha, Maja Steinlin, Sandra Waldmeier-Wilhelm, Martino Montomoli, Renzo Guerrini, Johannes R Lemke, Kerstin Kutsche
Pontocerebellar hypoplasia (PCH) represents a group of autosomal-recessive progressive neurodegenerative disorders of prenatal onset. Eleven PCH subtypes are classified according to clinical, neuroimaging and genetic findings. Individuals with PCH type 9 (PCH9) have a unique combination of postnatal microcephaly, hypoplastic cerebellum and pons, and hypoplastic or absent corpus callosum. PCH9 is caused by biallelic variants in AMPD2 encoding adenosine monophosphate deaminase 2; however, a homozygous AMPD2 frameshift variant has recently been reported in two family members with spastic paraplegia type 63 (SPG63)...
May 2018: European Journal of Human Genetics: EJHG
https://read.qxmd.com/read/29448957/brain-region-specific-enhancement-of-remyelination-and-prevention-of-demyelination-by-the-csf1r-kinase-inhibitor-blz945
#16
Nicolau Beckmann, Elisa Giorgetti, Anna Neuhaus, Stefan Zurbruegg, Nathalie Accart, Paul Smith, Julien Perdoux, Ludovic Perrot, Mark Nash, Sandrine Desrayaud, Peter Wipfli, Wilfried Frieauff, Derya R Shimshek
Multiple sclerosis (MS) is a chronic inflammatory disease affecting the central nervous system (CNS). While multiple effective immunomodulatory therapies for MS exist today, they lack the scope of promoting CNS repair, in particular remyelination. Microglia play a pivotal role in regulating myelination processes, and the colony-stimulating factor 1 (CSF-1) pathway is a key regulator for microglia differentiation and survival. Here, we investigated the effects of the CSF-1 receptor kinase inhibitor, BLZ945, on central myelination processes in the 5-week murine cuprizone model by non-invasive and longitudinal magnetic resonance imaging (MRI) and histology...
February 15, 2018: Acta Neuropathologica Communications
https://read.qxmd.com/read/29410513/a-novel-homozygous-dph1-mutation-causes-intellectual-disability-and-unique-craniofacial-features
#17
Futoshi Sekiguchi, Jafar Nasiri, Maryam Sedghi, Mansoor Salehi, Majid Hosseinzadeh, Nobuhiko Okamoto, Takeshi Mizuguchi, Mitsuko Nakashima, Satoko Miyatake, Atsushi Takata, Noriko Miyake, Naomichi Matsumoto
Biallelic mutations of the gene encoding diphthamide biosynthesis 1 (DPH1, NM_001383.3) cause developmental delay, dysmorphic features, sparse hair, and short stature (MIM *603527). Only two missense DPH1 mutations have been reported to date. Here, we describe a consanguineous family with two siblings both showing developmental delay, agenesis of the corpus callosum, dysmorphic facial features, sparse hair, brachycephaly, and short stature. By wholeexome sequencing, a homozygous frameshift mutation in DPH1 (c...
April 2018: Journal of Human Genetics
https://read.qxmd.com/read/29374355/physical-activity-mitigates-adverse-effect-of-metabolic-syndrome-on-vessels-and-brain
#18
Evan P Pasha, Alex C Birdsill, Stephanie Oleson, Andreana P Haley, Hirofumi Tanaka
Metabolic syndrome (MetS) adversely affects the vasculature and cerebral white matter (CWM) integrity. Arterial stiffening has been associated with diminished CWM integrity. Physical activity (PA) can ameliorate components of MetS and subsequently affect arterial stiffening and CWM integrity. Our aim was to determine the role of PA on mitigating the adverse influence of MetS on arterial stiffness and CWM integrity. In a cross-sectional study design, sixty-six middle-aged adults (40-62 years) composed of 18 sedentary MetS (Sed MetS), 21 physically active MetS (Active MetS), and 27 healthy individuals absent of MetS risk factors were studied...
January 26, 2018: Brain Imaging and Behavior
https://read.qxmd.com/read/29366874/novel-dcc-variants-in-congenital-mirror-movements-and-evaluation-of-disease-associated-missense-variants
#19
Tatjana Bierhals, Georg Christoph Korenke, Martina Baethmann, Laura López Marín, Martin Staudt, Kerstin Kutsche
Congenital mirror movements (CMM) are involuntary movements of one side of the body that mirror intentional movements of the other side. Heterozygous missense, frameshift and nonsense variants and small intragenic deletions in DCC cause CMM, isolated agenesis of the corpus callosum (ACC) or both. We report here the clinical phenotype and natural history of ten individuals with CMM carrying five different monoallelic DCC variants, including the missense variant p.(Trp273Arg), two duplications, one deletion and one deletion-insertion; all are novel and absent from databases...
June 2018: European Journal of Medical Genetics
https://read.qxmd.com/read/29352662/distinct-progression-patterns-of-brain-disease-in-infantile-and-juvenile-gangliosidoses-volumetric-quantitative-mri-study
#20
Igor Nestrasil, Alia Ahmed, Josephine M Utz, Kyle Rudser, Chester B Whitley, Jeanine R Jarnes-Utz
BACKGROUND: GM1-gangliosidosis and GM2-gangliosidosis (Tay-Sachs disease and Sandhoff disease) are unrelenting heritable neurodegenerative conditions of lysosomal ganglioside accumulation. Although progressive brain atrophy is characteristic, longitudinal quantification of specific brain structures has not been systematically studied. OBJECTIVES: The goal of this longitudinal study has been to quantify and track brain MRI volume changes, including specific structure volume changes, at different times in disease progression of childhood gangliosidoses, and to explore quantitative brain MRI volumetry (qMRI) as a non-invasive marker of disease progression for future treatment trials...
February 2018: Molecular Genetics and Metabolism
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