Diseases of the Nervous System: Clinical Neuroscience and Therapeutic Principles, Third Edition Edited by Arthur K
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NBD-17-173R1 Title
Elsevier Editorial System(tm) for Neurobiology of Disease Manuscript Draft Manuscript Number: NBD-17-173R1 Title: KCC3 loss-of-function contributes to Andermann syndrome by inducing activity-dependent neuromuscular junction defects Article Type: Research paper Keywords: Motoneuron; Andermann syndrome; chloride homeostasis; electrical activity; neuromuscular junction; Na+/K+ ATPase Corresponding Author: Dr frederique scamps, Corresponding Author's Institution: Inserm First Author: Mélissa Bowerman Order of Authors: Mélissa Bowerman; Céline Salsac; Véronique Bernard; Claire Soulard; Annie Dionne; Emmanuelle Coque; Salim Benlefki; Pascale Hince; Patrick Dion; Gillian Butler-Browne; William Camu; Jean-Pierre Bouchard; Eric Delpire; Guy Rouleau; Cédric Raoul; frederique scamps Abstract: Loss-of-function mutations in the potassium-chloride cotransporter KCC3 lead to Andermann syndrome, a severe sensorimotor neuropathy characterized by areflexia, amyotrophy and locomotor abnormalities. The molecular events responsible for axonal loss remain poorly understood. Here, we establish that global or neuron-specific KCC3 loss-of-function in mice leads to early neuromuscular junction (NMJ) abnormalities and muscular atrophy that are consistent with the pre- synaptic neurotransmission defects observed in patients. KCC3 depletion does not modify chloride handling, but promotes an abnormal electrical activity among primary motoneurons and mislocalization of Na+/K+-ATPase α1 in spinal cord motoneurons. Moreover, the activity-targeting drug carbamazepine restores Na+/K+-ATPase α1 localization and reduces NMJ denervation in Slc12a6-/- mice. We here propose that abnormal motoneuron electrical activity contributes to the peripheral neuropathy observed in Andermann syndrome. Cover Letter Dear Editor Thank you for your interest in this study. We have answered to all the points addressed by the Referees. We now provide discussion and references concerning the pertinence of using motoneuron primary culture relative to recordings from post-natal or adult spinal cord slices. -
Peripheral Neuropathy in Complex Inherited Diseases: an Approach To
PERIPHERAL NEUROPATHY IN COMPLEX INHERITED DISEASES: AN APPROACH TO DIAGNOSIS Rossor AM1*, Carr AS1*, Devine H1, Chandrashekar H2, Pelayo-Negro AL1, Pareyson D3, Shy ME4, Scherer SS5, Reilly MM1. 1. MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology and National Hospital for Neurology and Neurosurgery, London, WC1N 3BG, UK. 2. Lysholm Department of Neuroradiology, National Hospital for Neurology and Neurosurgery, London, WC1N 3BG, UK. 3. Unit of Neurological Rare Diseases of Adulthood, Carlo Besta Neurological Institute IRCCS Foundation, Milan, Italy. 4. Department of Neurology, University of Iowa, 200 Hawkins Drive, Iowa City, IA 52242, USA 5. Department of Neurology, University of Pennsylvania, Philadelphia, PA 19014, USA. * These authors contributed equally to this work Corresponding author: Mary M Reilly Address: MRC Centre for Neuromuscular Diseases, 8-11 Queen Square, London, WC1N 3BG, UK. Email: [email protected] Telephone: 0044 (0) 203 456 7890 Word count: 4825 ABSTRACT Peripheral neuropathy is a common finding in patients with complex inherited neurological diseases and may be subclinical or a major component of the phenotype. This review aims to provide a clinical approach to the diagnosis of this complex group of patients by addressing key questions including the predominant neurological syndrome associated with the neuropathy e.g. spasticity, the type of neuropathy, and the other neurological and non- neurological features of the syndrome. Priority is given to the diagnosis of treatable conditions. Using this approach, we associated neuropathy with one of three major syndromic categories - 1) ataxia, 2) spasticity, and 3) global neurodevelopmental impairment. Syndromes that do not fall easily into one of these three categories can be grouped according to the predominant system involved in addition to the neuropathy e.g. -
Neuro-Ophthalmology-Email.Pdf
NEURO- OPHTHALMOLOGY Edited by DESMOND P. KIDD, MD, FRCP Consultant Neurologist Department of Clinical Neurosciences Royal Free Hospital and University College Medical School London, United Kingdom NANCY J. NEWMAN, MD LeoDelle Jolley Professor of Ophthalmology Professor of Ophthalmology and Neurology Instructor in Neurological Surgery Emory University School of Medicine Atlanta, Georgia VALE´RIE BIOUSSE, MD Cyrus H. Stoner Professor of Ophthalmology Professor of Ophthalmology and Neurology Emory University School of Medicine Atlanta, Georgia 1600 John F. Kennedy Blvd. Ste 1800 Philadelphia, PA 19103-2899 NEURO-OPHTHALMOLOGY ISBN: 978-0-7506-7548-2 Copyright # 2008 by Butterworth-Heinemann, an imprint of Elsevier Inc. All rights reserved. No part of this publication may be reproduced or transmitted in any form or by any means, electronic or mechanical, including photocopying, recording, or any information storage and retrieval system, without permission in writing from the publisher. Permissions may be sought directly from Elsevier’s Rights Department: phone: (þ1) 215 239 3804 (US) or (þ44) 1865 843830 (UK); fax: (þ44) 1865 853333; e-mail: [email protected]. You may also complete your request on-line via the Elsevier website at http://www.elsevier.com/permissions. Notice Knowledge and best practice in this field are constantly changing. As new research and experience broaden our knowledge, changes in practice, treatment and drug therapy may become necessary or appropriate. Readers are advised to check the most current information provided (i) on procedures featured or (ii) by the manufacturer of each product to be administered, to verify the recommended dose or formula, the method and duration of administration, and contraindications. -
Exploring Sensory Neuroscience Through Experience and Experiment
The Journal of Undergraduate Neuroscience Education (JUNE), Fall 2012, 11(1):A126-A131 ARTICLE Exploring Sensory Neuroscience Through Experience and Experiment Robert A. Wyttenbach Department of Neurobiology and Behavior, Cornell University, Ithaca, NY 14853. Many phenomena that we take for granted are illusions — attempts to connect them to neuroscience, and shows how color and motion on a TV or computer monitor, for students can explore and experiment with them. Even example, or the impression of space in a stereo music when (as is often the case) there is no agreed-upon recording. Even the stable image that we perceive when mechanistic explanation for an illusion, students can form looking directly at the real world is illusory. One of the hypotheses and test them by manipulating stimuli and important lessons from sensory neuroscience is that our measuring their effects. In effect, students can experiment perception of the world is constructed rather than received. with illusions using themselves as subjects. Sensory illusions effectively capture student interest, but how do you then move on to substantive discussion of Key words: illusion, adaptation, aftereffect, receptive field, neuroscience? This article illustrates several illusions, motion, color, pitch, size, orientation In addition to their immediate aesthetic appeal, illusions adaptation, you move your head closer to or further from have historically been used to investigate mechanisms of the white screen or look at the sky? (6) If you adapt one perception. While the success of this approach has been eye with the other eye closed and then switch eyes, is mixed — many illusions do not have accepted explanations there an afterimage? or turn out to be more complex than initially thought — Interpretations: (1) Students should be able to predict illusions are still powerful teaching tools. -
2017PNS Final Programme W
2017 PNS Annual Meeting 8-12 July | Sitges, Spain Programme and Abstracts Programme Programme and Abstracts 2017 PNS Annual Meeting 8 – 12 July Sitges, Spain Welcome On behalf of the Peripheral Nerve Society, we are delighted to welcome you to the 2017 Annual Meeting at the Meliá in Sitges, Spain. The PNS Annual Meeting continues to be the premier meeting for cutting-edge innovation and advances in peripheral neuropathy. The 2017 Meeting will provide a mixture of excellent plenary lectures, oral platforms, oral posters, poster sessions, an education course and dedicated symposia organised by special interest groups for Charcot Marie Tooth and related neuropathies (CMTR), the Inflammatory Neuropathy Consortium (INC) and diabetes. There will also be clinical trials update sessions and a hot topic symposium. We look forward to you being part of it. Join us for the Opening Ceremony on Saturday, 8 July, from 18.00 to 20.00, in the Auditorium Hall. The reception will feature complimentary drinks and hors d’oeuvres. Coffee breaks and lunch for registrants will only be provided daily for registrants. Please see the programme for details. Complimentary internet will be provided. Instructions for access can be found on page 11 of the programme. Be sure to attend the Business Meeting on Monday at 13.00 in the Main Auditorium. We will be reviewing Society business, and your input is needed. Monday night, the PNS will be honoring Junior and new Members of the Society with a cocktail reception from 19.00 to 20.00. For those who have registered for this event during the online registration, please join us for the PNS Closing Dinner on Tuesday, 11 July, from 19.00 to 22.00 in the Tramuntana room. -
Andermann Syndrome
Andermann syndrome Description Andermann syndrome is a disorder that damages the nerves used for muscle movement and sensation (motor and sensory neuropathy). Absence (agenesis) or malformation of the tissue connecting the left and right halves of the brain (corpus callosum) also occurs in most people with this disorder. People affected by Andermann syndrome have abnormal or absent reflexes (areflexia) and weak muscle tone (hypotonia). They experience muscle wasting (amyotrophy), severe progressive weakness and loss of sensation in the limbs, and rhythmic shaking ( tremors). They typically begin walking between ages 3 and 4 and lose this ability by their teenage years. As they get older, people with this disorder frequently develop joint deformities called contractures, which restrict the movement of certain joints. Most affected individuals also develop abnormal curvature of the spine (scoliosis), which may require surgery. Andermann syndrome also results in abnormal function of certain cranial nerves, which emerge directly from the brain and extend to various areas of the head and neck. Cranial nerve problems may result in facial muscle weakness, drooping eyelids (ptosis), and difficulty following movements with the eyes (gaze palsy). Individuals with Andermann syndrome usually have intellectual disability, which may be mild to severe, and some experience seizures. They may also develop psychiatric symptoms such as depression, anxiety, agitation, paranoia, and hallucinations, which usually appear in adolescence. Some people with Andermann syndrome have atypical physical features such as widely spaced eyes (ocular hypertelorism); a wide, short skull (brachycephaly); a high arch of the hard palate at the roof of the mouth; a big toe that crosses over the other toes; and partial fusion (syndactyly) of the second and third toes. -
Abadie Sign, 400 Abducens Nerve Palsy. See Sixth Nerve Palsy
Cambridge University Press 978-1-107-01455-8 - Neurologic Differential Diagnosis: A Case-Based Approach Edited by Alan B. Ettinger and Deborah M.Weisbrot Index More information Index Abadie sign, 400 auditory agnosias, 20–1 hallucinations, 189 abducens nerve palsy. See sixth nerve case vignette, 18–19 memory impairment, 233 palsy classification of types, 19 myoclonus related to, 277 abetalipoproteinemia, 301 definition, 18, 39, 408 psychosis related to, 352 abulia, 5 differential diagnosis, 19 amaurosis fugax, 494 acalculia, 39, 433 distinction from aphasia, 39 amnesia, 5 achalasia, 153 for scenes, 19 approach to diagnosis, 223 achromatopsia, 5 for words, 19 case vignette (scopolamine-related acquired hepatocerebral degeneration, tactile agnosia, 21 amnesia), 234 229 visual agnosias, 18–20 case vignettes (transient global acquired neuromyotonia, 282 agnostic alexia, 20 amnesia), 223–34 acrophobia, 349 agoraphobia, 22 definition, 223 acute cardiogenic shock, 378 agraphesthesia, 5 differential diagnosis, 224–33 acute disseminated encephalomyelitis, agraphia, 433 dissociative amnesia, 135–6 226, 532 definition, 39 distinction from delirium, 223 acute inflammatory demyelinating distinction from aphasia, 39 distinction from dementia, 223 polyneuropathy (AIDP), 9, 523, Aicardi syndrome, 353 etiologies, 224–33 551, 565, 569 AIDS, 83, 400 for non-verbal material, 5 acute intermittent porphyria, 229 cognitive impairment, 109 for verbal material, 5 acute pulmonary edema, 378 AIDS myelopathy, 531 transient global amnesia, 225 acute stress disorder, -
Processes in Biological Vision
PROCESSES IN BIOLOGICAL VISION: including, ELECTROCHEMISTRY OF THE NEURON This material is excerpted from the full β-version of the text. The final printed version will be more concise due to further editing and economical constraints. A Table of Contents and an index are located at the end of this paper. James T. Fulton Vision Concepts [email protected]/vision April 30, 2017 Copyright 2000 James T. Fulton Environment & Coordinates 2- 1 2. Environment, Coordinate Reference System and First Order Operation 1 The beginning of wisdom is to call things by their right names. - Chinese Proverb The process of communication involves a mutual agreement on the meaning of words. - Charley Halsted, 1993 [xxx rationalize azure versus aqua before publishing ] The environment of the eye can be explored from several points of view; its radiation environment, its thermo- mechanical environment, its energy supply environment and its output signal environment. To discuss the operation of the eye in such environments, establishing certain coordinate systems, functional relationships and methods of notation is important. That is the purpose of this chapter. The reader is referred to the original source for more details on the environment and the coordinate systems. Extensive references are provided for this purpose. Details relative to the various functional operations in vision will be explored in the chapters to follow. Because of the unique integration of many processes by the photoreceptor cells of the retina, which are explored individually in different chapters, a brief section is included here to coordinate this range of material. 2.1 Physical Environment The study of the visual system requires exploring a great many parameters from a variety of perspectives. -
Toward the Development of a Model to Estimate the Readability of Credentialing-Examination Materials
UNLV Theses, Dissertations, Professional Papers, and Capstones 5-2010 Toward the development of a model to estimate the readability of credentialing-examination materials Barbara Anne Badgett University of Nevada Las Vegas Follow this and additional works at: https://digitalscholarship.unlv.edu/thesesdissertations Part of the Educational Psychology Commons Repository Citation Badgett, Barbara Anne, "Toward the development of a model to estimate the readability of credentialing- examination materials" (2010). UNLV Theses, Dissertations, Professional Papers, and Capstones. 185. http://dx.doi.org/10.34917/1436770 This Dissertation is protected by copyright and/or related rights. It has been brought to you by Digital Scholarship@UNLV with permission from the rights-holder(s). You are free to use this Dissertation in any way that is permitted by the copyright and related rights legislation that applies to your use. For other uses you need to obtain permission from the rights-holder(s) directly, unless additional rights are indicated by a Creative Commons license in the record and/or on the work itself. This Dissertation has been accepted for inclusion in UNLV Theses, Dissertations, Professional Papers, and Capstones by an authorized administrator of Digital Scholarship@UNLV. For more information, please contact [email protected]. TOWARD THE DEVELOPMENT OF A MODEL TO ESTIMATE THE READABILITY OF CREDENTIALING-EXAMINATION MATERIALS by Barbara A. Badgett Bachelor of Science University of Nevada, Las Vegas 2000 Master of Science University -
C:\Vision\17Performance Pt 1A.Wpd
PROCESSES IN BIOLOGICAL VISION: including, ELECTROCHEMISTRY OF THE NEURON This material is excerpted from the full β-version of the text. The final printed version will be more concise due to further editing and economical constraints. A Table of Contents and an index are located at the end of this paper. James T. Fulton Vision Concepts [email protected] April 30, 2017 Copyright 2003 James T. Fulton Performance Descriptors 17- 1 [xxx reconfirm all Section references to or in 17.2.2, etc. ] [xxx reword references to constant quantum efficiency ] 17 Performance descriptors of Vision1 Probably more error has crept into the subject of colour vision from inexact description of experimental conditions and the nature of the stimuli employed than from any other cause. Sir John Parsons, 1915 Because of the amount of color artwork in this chapter, it has been necessary to divide it into three parts for distribution over the INTERNET. PART 1A: INTRO, LUMINANCE & NEW CHROMATICITY DIAGRAM PART 1B: EXTENSIONS TO THE NEW CHROMATICITY DIAGRAM PART 2: TEMPORAL AND SPATIAL DESCRIPTORS OF VISION PART 1A: INTRO. LUMINANCE & CHROMINANCE The press of work on other parts of the manuscript may delay the final cleanup of this PART but it is too valuable to delay its release for comment. Any comments are welcome at [email protected]. 17.1 Introduction This Chapter and Chapter 16 form a pair. While the last Chapter developed equations that are applicable to any animal, this Chapter will concentrate on the most highly developed performance descriptors, those applicable to the human. The visual system is considerably more capable, more flexible and more complex than reflected in even the scientific literature. -
A Role for KCC3 in Maintaining Cell Volume of Peripheral Nerve Fibers
Neurochemistry International 123 (2019) 114e124 Contents lists available at ScienceDirect Neurochemistry International journal homepage: www.elsevier.com/locate/nci A role for KCC3 in maintaining cell volume of peripheral nerve fibers * Bianca Flores, Cara C. Schornak, Eric Delpire Neuroscience Graduate Program and Department of Anesthesiology, Vanderbilt University School of Medicine, Nashville, TN 37232, United States article info abstract Article history: The potassium chloride cotransporter, KCC3, is an electroneutral cotransporter expressed in the pe- þ À Received 18 December 2017 ripheral and central nervous system. KCC3 is responsible for the efflux of K and Cl in neurons to help Received in revised form maintain cell volume and intracellular chloride levels. A loss-of-function (LOF) of KCC3 causes Hereditary 17 January 2018 Motor Sensory Neuropathy with Agenesis of the Corpus Callosum (HMSN/ACC) in a population of in- Accepted 17 January 2018 dividuals in the Charlevoix/Lac-Saint-Jean region of Quebec, Canada. A variety of mouse models have Available online 31 January 2018 been created to understand the physiological and deleterious effects of a KCC3 LOF. Though this KCC3 LOF in mouse models has recapitulated the peripheral neuropathy phenotype of HMSN/ACC, we still know Keywords: KCC3 little about the development of the disease pathophysiology. Interestingly, the most recent KCC3 mouse HMSN/ACC model that we created recapitulated a peripheral neuropathy-like phenotype originating from a KCC3 ACCPN gain-of-function (GOF). Despite the past two decades of research in attempting to understand the role of Andermann syndrome KCC3 in disease, we still do not understand how dysfunction of this cotransporter can lead to the T991A pathophysiology of peripheral neuropathy. -
The Andermann Syndrome: Agenesis of the Corpus Callosum Associated with Mental Retardation and Progressive Sensorimotor Neuronop
LE JOURNAL CANADIEN DES SCIENCES NEUROLOGIQUES The Andermann Syndrome: Agenesis of the Corpus Callosum Associated with Mental Retardation and Progressive Sensorimotor Neuronopathy Albert Larbrisseau, Michel Vanasse, Pierre Brochu and Gaetan Jasmin ABSTRACT: Andermann et al. described in 1972 an autosomal recessive inherited syndrome which associates agenesis of the corpus callosum, mental deficiency, and a peripheral motor deficit. We had the opportunity to study in detail 15 patients affected by this syndrome. As in the cases previously reported, the families of these children all originated from Charlevoix County and the Saguenay-Lac St-Jean area in the Province of Quebec. Clinically, these patients have a characteristic facies and moderate mental retardation associated with a progressive motor neuropathy leading to loss of ambulation by adolescence and progressive scoliosis. In 13 of these 15 patients, neuroradiological investigation has shown either total or partial agenesis of the corpus callosum. In every patient in whom these tests were done, sensory nerve action potentials were absent and motor nerve conduction velocities reduced. We also found neurogenic abnormalities both on EMG and neuromuscular biopsies. These abnormalities are similar to those described in Friedreich's ataxia and in hereditary motor and sensory neuropathy type II, although in our patients the motor deficit is much more severe than in these diseases. The pathogenesis of the peripheral nervous system involvement is still unknown since there have so far been no autopsy studies of this syndrome. RESUME: Andermann et coll. ont identifie en 1972 un syndrome hereditaire a transmission autosomale recessive associant une ag£n6sie du corps calleux a une deficience intellectuelle et a une atteinte motrice peripherique.