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Russell E Banks, Delfina C Domínguez
Concussion is a transitory brain injury resulting from a blow to the head. Concussion is considered a mild traumatic brain injury (mTBI), which is self-limited. Repetitive mTBI has been associated with chronic, progressive neurological damage. Extreme biochemical changes occur in neuron cells as a result of mTBI. These metabolic disturbances may reflect the symptoms observed in patients who had suffered concussions. However, it has been difficult to correlate clinical signs and symptoms. Currently, there are no laboratory tests to diagnose concussion, though several biomarkers are being investigated...
February 14, 2019: Seminars in Speech and Language
Georg F Hoffmann
Springer International Publishing AG 2018, ISBN 978-3-319-76148-0, ISBN 978-3-319-76148-0 (ebook) Growing up is a fascinating journey. The book "Neurometabolic Hereditary Diseases of Adults" designed and edited by Dr. Allessandro P. Burlina is an eye opener for an area of metabolic medicine which has slowly progressed, is maturing and most of all very important in clinical significance and number of patients. This article is protected by copyright. All rights reserved.
February 13, 2019: Journal of Inherited Metabolic Disease
Adilson Guilherme, Felipe Henriques, Alexander H Bedard, Michael P Czech
Adipose tissue comprises adipocytes and many other cell types that engage in dynamic crosstalk in a highly innervated and vascularized tissue matrix. Although adipose tissue has been studied for decades, it has been appreciated only in the past 5 years that extensive arborization of nerve fibres has a dominant role in regulating the function of adipose tissue. This Review summarizes the latest literature, which suggests that adipocytes signal to local sensory nerve fibres in response to perturbations in lipolysis and lipogenesis...
February 7, 2019: Nature Reviews. Endocrinology
M M Tanashyan, A A Shabalina, O V Lagoda, A A Raskurazhev, R N Konovalov
AIM: The study of Actovegin effectin clinical presentations and hemorheological characteristics in patients with chronic cerebrovascular pathology (CCVP) and mild cognitive impairment. MATERIALS AND METHODS: The study group included 47 patients (25 male and 22 female), aged 61-75 years (mean age 63.8±5.4) with CCVP who were treated with Actovegin. The control group comprised 28 patients matched by gender and age, without associated cerebrovascular pathology. All patients along with thorough neurological examination underwent laboratory analyses (platelet and erythrocyte rheology), neurovisualization studies (functional magnetic resonance imaging of the brain)...
December 30, 2018: Terapevticheskiĭ Arkhiv
Rajech Sharkia, Klaas J Wierenga, Amit Kessel, Abdussalam Azem, Enrico Bertini, Rosalba Carrozzo, Alessandra Torraco, Paola Goffrini, Camilla Ceccatelli Berti, M Eileen McCormick, Barbara Plecko, Andrea Klein, Lucia Abela, Holger Hengel, Ludger Schöls, Stavit Shalev, Morad Khayat, Muhammad Mahajnah, Ronen Spiegel
Mitochondrial aconitase is the second enzyme in the tricarboxylic acid (TCA) cycle catalyzing the interconversion of citrate into isocitrate and encoded by the nuclear gene ACO2. A homozygous pathogenic variant in the ACO2 gene was initially described in 2012 resulting in a novel disorder termed "infantile cerebellar retinal degeneration" (ICRD, OMIM#614559). Subsequently, additional studies reported patients with pathogenic ACO2 variants, further expanding the genetic and clinical spectrum of this disorder to include milder and later onset manifestations...
December 27, 2018: Journal of Inherited Metabolic Disease
Naohiro Okada, Noriaki Yahata, Daisuke Koshiyama, Kentaro Morita, Kingo Sawada, Sho Kanata, Shinya Fujikawa, Noriko Sugimoto, Rie Toriyama, Mio Masaoka, Shinsuke Koike, Tsuyoshi Araki, Yukiko Kano, Kaori Endo, Syudo Yamasaki, Shuntaro Ando, Atsushi Nishida, Mariko Hiraiwa-Hasegawa, Richard A E Edden, Peter B Barker, Akira Sawa, Kiyoto Kasai
Human prosocial behavior (PB) emerges in childhood and matures during adolescence. Previous task-related functional magnetic resonance imaging (fMRI) studies have reported involvement of the medial prefrontal cortex including the anterior cingulate cortex (ACC) in social cognition in adolescence. However, neurometabolic and functional connectivity (FC) basis of PB in early adolescence remains unclear. Here, we measured GABA levels in the ACC and FC in a subsample (aged 10.5-13.4 years) of a large-scale population-based cohort with MR spectroscopy (MEGA-PRESS) and resting-state fMRI...
January 24, 2019: Scientific Reports
Pippa Staps, Imelda J M de Groot, Marjo H J C van Gerven, Michèl A A P Willemsen
AIM:  Sjögren-Larsson syndrome (SLS) is an autosomal recessively inherited neurometabolic disease caused by an enzyme defect in lipid metabolism. Patients suffer from intellectual disability, bilateral spastic paresis, ichthyosis, visual impairment, and photophobia. Knowledge about the meaning of having SLS in daily life is lacking. METHODS:  Sixteen parents or caregivers of patients with SLS were asked to fill out online questionnaires about daily functioning, quality of life, feeding and swallowing problems, skin treatment, female hormonal status, and greatest problems...
January 4, 2019: Neuropediatrics
Ofer Prager, Lyna Kamintsky, Luisa A Hasam-Henderson, Karl Schoknecht, Vera Wuntke, Ismini Papageorgiou, Jutta Swolinsky, Valeria Muoio, Guy Bar-Klein, Udi Vazana, Uwe Heinemann, Alon Friedman, Richard Kovács
OBJECTIVE: Blood-brain barrier (BBB) impairment, redistribution of pericytes, and disturbances in cerebral blood flow may contribute to the increased seizure propensity and neurological comorbidities associated with epilepsy. However, despite the growing evidence of postictal disturbances in microcirculation, it is not known how recurrent seizures influence pericytic membrane currents and subsequent vasodilation. METHODS: Here, we investigated successive changes in capillary neurovascular coupling and BBB integrity during recurrent seizures induced by 4-aminopyridine or low-Mg2+ conditions...
January 4, 2019: Epilepsia
Marion Masingue, Julien Fauré, Guilhem Solé, Tanya Stojkovic, Sarah Léonard-Louis
PIEZO2 mutations have been described in dominant arthrogryposis, but homozygous mutations of PIEZO2 may also be responsible for more complex clinical patterns, associating distal arthrogryposis, neonatal respiratory insufficiency, scoliosis and proprioceptive impairment. We report here two sisters presenting with these clinical and genetic features. They had a similar phenotype, with severe hypotonia and respiratory distress at birth, delayed acquisition of motor milestones and need of scoliosis surgery. Hypotonia and alteration of proprioception were at the forefront of clinical examination for both, along with areflexia, hyperlaxity, cutis laxa, and discrete facial dysmorphy...
November 8, 2018: Neuromuscular Disorders: NMD
Lynne Rumping, Benjamin Büttner, Oliver Maier, Holger Rehmann, Maarten Lequin, Jan-Ulrich Schlump, Bernhard Schmitt, Birgit Schiebergen-Bronkhorst, Hubertus C M T Prinsen, Michele Losa, Ralph Fingerhut, Johannes R Lemke, Fried J T Zwartkruis, Roderick H J Houwen, Judith J M Jans, Nanda M Verhoeven-Duif, Peter M van Hasselt, Rami Jamra
Importance: The identification and understanding of the monogenic causes of neurodevelopmental disorders are of high importance for personalized treatment and genetic counseling. Objective: To identify and characterize novel genes for a specific neurodevelopmental disorder characterized by refractory seizures, respiratory failure, brain abnormalities, and death in the neonatal period; describe the outcome of glutaminase deficiency in humans; and understand the underlying pathological mechanisms...
December 21, 2018: JAMA Neurology
Lin Xu, Ming-Yan Li, Yue-Liang Shen
Iron deficiency (ID) is the most common micronutrient deficiency in children. Due to insufficient iron storage at birth and rapid catch-up growth after birth, preterm infants tend to have a high incidence rate of ID. During the critical period of brain development, ID alters iron-dependent neurometabolism, neurochemistry, neuroanatomy, and gene/protein profiles. This affects the central nervous system and causes the change in neurocognitive and behavioral development. Iron supplementation in infancy cannot reverse neurodevelopmental impairment caused by perinatal ID...
December 2018: Zhongguo Dang Dai Er Ke za Zhi, Chinese Journal of Contemporary Pediatrics
Paulina Pokora, Aleksandra Jezela-Stanek, Agnieszka Różdżyńska-Świątkowska, Elżbieta Jurkiewicz, Anna Bogdańska, Edyta Szymańska, Dariusz Rokicki, Elżbieta Ciara, Małgorzata Rydzanicz, Piotr Stawiński, Rafał Płoski, Anna Tylki-Szymańska
Glutaric aciduria type 1 is a neurometabolic disorder, caused by riboflavin-dependent glutaryl-CoA dehydrogenase deficiency. As its consequence, accumulation of the putatively neurotoxic metabolites (glutaric and 3-hydroxyglutaric acids) in body tissues, but especially within the brain, is observed. Estimated incidence of the disease is 1 in 110,000 newborns, The prevalence however may be higher, depending on a specific ethnic group, and result in phenotypic variation as well. In this paper we present clinical data of 13 patients of Polish nationality...
December 20, 2018: Metabolic Brain Disease
Angela T S Wyse, Mateus Grings, Moacir Wajner, Guilhian Leipnitz
Sulfite oxidase (SO) deficiency is an autosomal recessive inherited neurometabolic disease caused by deficient activity of SO. It is biochemically characterized by tissue accumulation and high urinary excretion of sulfite, thiosulfate, and S-sulfocysteine. Severe neurological symptoms, including neonatal seizures, encephalopathy, and psychomotor retardation, are commonly observed in the affected patients, but the pathogenesis of the neurologic dysfunction is still poorly understood. In this minireview, we will briefly summarize the knowledge obtained from in vivo and in vitro findings from animal studies indicating that oxidative stress and mitochondrial dysfunction are involved in the pathophysiology of the brain damage in this disease...
December 5, 2018: Neurotoxicity Research
Lance H Rodan, Kwame Anyane-Yeboa, Karen Chong, Jolien S Klein Wassink-Ruiter, Ashley Wilson, Lacey Smith, Sanjeev V Kothare, Farrah Rajabi, Susan Blaser, Min Ni, Ralph J DeBerardinis, Annapurna Poduri, Gerard T Berry
Polyamines serve a number of vital functions in humans, including regulation of cellular proliferation, intracellular signaling, and modulation of ion channels. Ornithine decarboxylase 1 (ODC1) is the rate-limiting enzyme in endogenous polyamine synthesis. In this report, we present four patients with a distinct neurometabolic disorder associated with de novo heterozygous, gain-of-function variants in the ODC1 gene. This disorder presents with global developmental delay, ectodermal abnormalities including alopecia, absolute or relative macrocephaly, and characteristic facial dysmorphisms...
November 26, 2018: American Journal of Medical Genetics. Part A
Christos Chinopoulos, Spyros Batzios, Lambertus P van den Heuvel, Richard Rodenburg, Roel Smeets, Hans R Waterham, Marjolein Turkenburg, Jos P Ruiter, Ronald J A Wanders, Judit Doczi, Gergo Horvath, Arpad Dobolyi, Euthymia Vargiami, Ron A Wevers, Dimitrios Zafeiriou
Succinate-CoA ligase (SUCL) is a heterodimer consisting of an alpha subunit encoded by SUCLG1, and a beta subunit encoded by either SUCLA2 or SUCLG2 catalyzing an ATP- or GTP-forming reaction, respectively, in the mitochondrial matrix. The deficiency of this enzyme represents an encephalomyopathic form of mtDNA depletion syndromes. We describe the fatal clinical course of a female patient with a pathogenic mutation in SUCLG1 (c.626C > A, p.Ala209Glu) heterozygous at the genomic DNA level, but homozygous at the transcriptional level...
November 16, 2018: Molecular Genetics and Metabolism
Peter J Lally, Paolo Montaldo, Vânia Oliveira, Aung Soe, Ravi Swamy, Paul Bassett, Josephine Mendoza, Gaurav Atreja, Ujwal Kariholu, Santosh Pattnayak, Palaniappan Sashikumar, Helen Harizaj, Martin Mitchell, Vijayakumar Ganesh, Sundeep Harigopal, Jennifer Dixon, Philip English, Paul Clarke, Priya Muthukumar, Prakash Satodia, Sarah Wayte, Laurence J Abernethy, Kiran Yajamanyam, Alan Bainbridge, David Price, Angela Huertas, David J Sharp, Vaneet Kalra, Sanjay Chawla, Seetha Shankaran, Sudhin Thayyil
BACKGROUND: In neonatal encephalopathy, the clinical manifestations of injury can only be reliably assessed several years after an intervention, complicating early prognostication and rendering trials of promising neuroprotectants slow and expensive. We aimed to determine the accuracy of thalamic proton magnetic resonance (MR) spectroscopy (MRS) biomarkers as early predictors of the neurodevelopmental abnormalities observed years after neonatal encephalopathy. METHODS: We did a prospective multicentre cohort study across eight neonatal intensive care units in the UK and USA, recruiting term and near-term neonates who received therapeutic hypothermia for neonatal encephalopathy...
November 14, 2018: Lancet Neurology
Peter D Szigetvari, Gopinath Muruganandam, Juha P Kallio, Erik I Hallin, Agnete Fossbakk, Remy Loris, Inari Kursula, Lisbeth B Møller, Per M Knappskog, Petri Kursula, Jan Haavik
Tyrosine hydroxylase (TH) is a multi-domain, homo-oligomeric enzyme that catalyses the rate-limiting step of catecholamine neurotransmitter biosynthesis. Missense variants of human TH are associated with a recessive neurometabolic disease with low levels of brain dopamine and noradrenaline, resulting in a variable clinical picture, from progressive brain encephalopathy to adolescent onset DOPA-responsive dystonia (DRD). We expressed isoform 1 of human TH (hTH1) and its dystonia-associated missense variants in E...
November 9, 2018: Journal of Neurochemistry
Oun Al-Iedani, Jameen Arm, Karen Ribbons, Rodney Lea, Jeannette Lechner-Scott, Saadallah Ramadan
PURPOSE: This study was designed to evaluate the diurnal stability and long-term repeatability and reliability of one-dimensional (1D) hydrogen magnetic resonance spectroscopy (1H-MRS) in vitro and in vivo at 3 T. MATERIAL AND METHOD: A standard brain phantom was used for in vitro study. In vivo diurnal evaluation involved ten healthy subjects, while repeatability study involved six subjects. MRS was acquired from posterior cingulate gyrus (PCG), and processed with LCModel...
November 2018: European Journal of Radiology
Karin Terburgh, Zander Lindeque, Shayne Mason, Francois van der Westhuizen, Roan Louw
Leigh syndrome is one of the most common childhood-onset neurometabolic disorders resulting from a primary oxidative phosphorylation dysfunction and affecting mostly brain tissues. Ndufs4-/- mice have been widely used to study the neurological responses in this syndrome, however the reason why these animals do not display strong muscle involvement remains elusive. We combined biochemical strategies and multi-platform metabolomics to gain insight into the metabolism of both glycolytic (white quadriceps) and oxidative (soleus) skeletal muscles from Ndufs4-/- mice...
October 31, 2018: Biochimica et biophysica acta. Molecular basis of disease
Richard Kovács, Zoltan Gerevich, Alon Friedman, Jakub Otáhal, Ofer Prager, Siegrun Gabriel, Nikolaus Berndt
Epilepsy is characterized by the regular occurrence of seizures, which follow a stereotypical sequence of alterations in the electroencephalogram. Seizures are typically a self limiting phenomenon, concluding finally in the cessation of hypersynchronous activity and followed by a state of decreased neuronal excitability which might underlie the cognitive and psychological symptoms the patients experience in the wake of seizures. Many efforts have been devoted to understand how seizures spontaneously stop in hope to exploit this knowledge in anticonvulsant or neuroprotective therapies...
2018: Frontiers in Cellular Neuroscience
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