DOCSLIB.ORG

Neurologic Outcomes in Friedreich Ataxia: Study of a Single-Site Cohort E415

Total Page：16

File Type：pdf, Size：1020Kb

Download full-text PDF Read full-text
Neurologic Outcomes in Friedreich Ataxia: Study of a Single-Site Cohort E415 Volume 6, Number 3, June 2020 Neurology.org/NG A peer-reviewed clinical and translational neurology open access journal ARTICLE Neurologic outcomes in Friedreich ataxia: Study of a single-site cohort e415 ARTICLE Prevalence of RFC1-mediated spinocerebellar ataxia in a North American ataxia cohort e440 ARTICLE Mutations in the m-AAA proteases AFG3L2 and SPG7 are causing isolated dominant optic atrophy e428 ARTICLE Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy revisited: Genotype-phenotype correlations of all published cases e434 Academy Officers Neurology® is a registered trademark of the American Academy of Neurology (registration valid in the United States). James C. Stevens, MD, FAAN, President Neurology® Genetics (eISSN 2376-7839) is an open access journal published Orly Avitzur, MD, MBA, FAAN, President Elect online for the American Academy of Neurology, 201 Chicago Avenue, Ann H. Tilton, MD, FAAN, Vice President Minneapolis, MN 55415, by Wolters Kluwer Health, Inc. at 14700 Citicorp Drive, Bldg. 3, Hagerstown, MD 21742. Business offices are located at Two Carlayne E. Jackson, MD, FAAN, Secretary Commerce Square, 2001 Market Street, Philadelphia, PA 19103. Production offices are located at 351 West Camden Street, Baltimore, MD 21201-2436. Janis M. Miyasaki, MD, MEd, FRCPC, FAAN, Treasurer © 2020 American Academy of Neurology. Ralph L. Sacco, MD, MS, FAAN, Past President Neurology® Genetics is an official journal of the American Academy of Neurology. Journal website: Neurology.org/ng, AAN website: AAN.com CEO, American Academy of Neurology Copyright and Permission Information: Please go to the journal website (www.neurology.org/ng) and click the Permissions tab for the relevant Mary E. Post, MBA, CAE article. Alternatively, send an email to [email protected]. Chief Executive Officer General information about permissions can be found here: https://shop.lww.com/ journal-permission. 20l Chicago Ave Disclaimer: Opinions expressed by the authors and advertisers are not Minneapolis, MN 55415 necessarily those of the American Academy of Neurology, its affiliates, or of the Publisher. The American Academy of Neurology, its affiliates, and the Tel: 612-928-6000 Publisher disclaim any liability to any party for the accuracy, completeness, efficacy, or availability of the material contained in this publication (including drug dosages) or for any damages arising out of the use Editorial Office or non-use of any of the material contained in this publication. Patricia K. Baskin, MS, Executive Editor Advertising Sales Representatives: Wolters Kluwer, 333 Seventh Avenue, Rachel A. Anderson, Administrative Assistant New York, NY 10001. Contacts: Eileen Henry, tel: 732-778-2261, fax: 973-215- 2485, [email protected] and in Europe: Craig Silver, tel: +44 Morgan S. Sorenson, Managing Editor 7855 062 550 or e-mail: [email protected]. fl Careers & Events: Monique McLaughlin, Wolters Kluwer, Two Commerce Neurology® Neuroimmunology & Neuroin ammation Square, 2001 Market Street, Philadelphia, PA 19103, tel: 215-521-8468, fax: 215- Neurology® Genetics 521-8801; [email protected]. Reprints: Meredith Edelman, Commercial Reprint Sales, Wolters Kluwer, Two Kathleen M. Pieper, Senior Managing Editor, Neurology® Commerce Square, 2001 Market Street, Philadelphia, PA 19103, tel: 215-356-2721; Karen Skaja, Senior Editorial Coordinator [email protected]; [email protected]. Skyler M. Kane, Editorial Coordinator Special projects: US & Canada: Alan Moore, Wolters Kluwer, Two Commerce Square, 2001 Market Street, Philadelphia, PA 19103, tel: Margaret A. Rei, Editorial Coordinator 215-521-8638, [email protected]. International: Andrew Wible, Senior Manager, Rights, Licensing, and Partnerships, Wolters Kluwer; Lee Ann Kleffman, Managing Editor, Neurology® Clinical Practice [email protected]. Andrea Rahkola, Production Editor Kristen Swendsrud, Production Coordinator Sharon L. Quimby, Digital Managing Editor Kaitlyn Aman Ramm, Digital Multimedia/Graphics Coordinator Justin Daugherty, Digital Multimedia/Podcast Coordinator Madeleine Sendek, MPH, Digital Marketing Communications Coordinator Publisher Wolters Kluwer Baltimore, MD Publishing Staff Sarah Carrera, MBA, Executive Publisher Jessica Heise, Production Team Leader, Neurology Journals Megen Miller, Production Editor Steve Rose, Editorial Assistant Stacy Drossner, Production Associate Copyright ª 2020 American Academy of Neurology. Unauthorized reproduction of this article is prohibited. A peer-reviewed clinical and translational neurology open access journal Neurology.org/NG Neurology® Genetics Editor Stefan M. Pulst, MD, Dr med, FAAN Vision Neurology®: Genetics will be the premier peer- reviewed journal in the field of neurogenetics. Deputy Editor Massimo Pandolfo, MD, FAAN Mission Neurology: Genetics will provide neurologists Associate Editors and clinical research scientists with Alexandra Durr, MD, PhD outstanding peer-reviewed articles, Suman Jayadev, MD editorials, and reviews to elucidate the role Margherita Milone, MD, PhD of genetic and epigenetic variations in Raymond P. Roos, MD, FAAN diseases and biological traits of the central Editorial Board and peripheral nervous systems. Hilary Coon, PhD Giovanni Coppola, MD ChantalDepondt, MD, PhD Editorial Tel: 612-928-6400 Brent L. Fogel, MD, PhD, FAAN Inquiries Toll-free: 800-957-3182 (US) AnthonyJ. Griswold, PhD Fax: 612-454-2748 Orhun H. Kantarci, MD [email protected] Julie R. Korenberg, PhD, MD Davide Pareyson, MD Shoji Tsuji, MD,PhD DinekeS. Verbeek,PhD Stay facebook.com/NeurologyGenetics Connected David Viskochil, MD,PhD twitter.com/greenjournal JulianeWinkelmann, MD Juan I. Young, PhD youtube.com/user/NeurologyJournal instagram.com/aanbrain Neurology® Journals Editor-in-Chief Jos´eG.Merino,MD,MPhil,FAAN Deputy Editor Classification of Evidence Olga Ciccarelli, MD, PhD, FRCP Review Team Melissa J. Armstrong, MD Section Editors Richard L. Barbano, MD,PhD, FAAN Biostatistics RichardM.Dubinsky,MD,MPH,FAAN Richard J. Kryscio, PhD Jeffrey J. Fletcher, MD, MSc Sue Leurgans, PhD Gary M. Franklin, MD, MPH, FAAN V. Shane Pankratz, PhD David S. Gloss II, MD,MPH&TM John J. Halperin, MD,FAAN fi Classi cation of Evidence Evaluations Jason Lazarou, MSc, MD Gary S. Gronseth, MD, FAAN Steven R. Mess´e, MD, FAAN Equity, Diversity, & Inclusion (EDI) Pushpa Narayanaswami, MBBS, DM, RoyH.Hamilton,MD,MS,FAAN FAAN Holly E. Hinson, MD, MCR, FAAN Alex Rae-Grant, MD Podcasts Stacey L. Clardy, MD, PhD, FAAN Jeffrey B. Ratliff, MD, Deputy Podcast Editor Ombudsman Jonathan W. Mink, MD, PhD, FAAN Scientific Integrity Advisor David S. Knopman, MD, FAAN Copyright ª 2020 American Academy of Neurology. Unauthorized reproduction of this article is prohibited. TABLE OF CONTENTS Volume 6, Number 3, June, 2020 Neurology.org/NG The Helix e424 TGM6 L517W is not a pathogenic variant for spinocerebellar ataxia type 35 e438 The Helix: Editorial Changes Y. Chen, D. Wu, B. Luo, G. Zhao, and K. Wang S.M. Pulst Open Access Open Access e425 Expanding the phenotypic and molecular spectrum of Editorial RNA polymerase III–related leukodystrophy e436 Intronic pentanucleotide expansion in the replication S. Perrier, L. Gauquelin, C. Fallet-Bianco, M.K. Dishop, RFC1 M.A. Michell-Robinson, L.T. Tran, K. Guerrero, L. Darbelli, M. Srour, factor 1 gene ( ) is a major cause of adult-onset K. Petrecca, D.L. Renaud, M. Saito, S. Cohen, S. Leiz, B. Alhaddad, ataxia T.B. Haack, I. Tejera-Martin, F.I. Monton, N. Rodriguez-Espinosa, D. Pohl, S. Nageswaran, A. Grefe, E. Glamuzina, and G. Bernard S.M. Boesch and M.A. Nance Open Access Open Access e426 Phenotypic variability in chorea-acanthocytosis Articles associated with novel VPS13A mutations e414 Neuraxial dysraphism in EPAS1-associated syndrome V. Niemel¨a, A. Salih, D. Solea, B. Lindvall, J. Weinberg, G. Miltenberger, T. Granberg, A. Tzovla, L. Nordin, T. Danfors, due to improper mesenchymal transition I. Savitcheva, N. Dahl, and M. Paucar J.S. Rosenblum, A.J. Cappadona, D.P. Argersinger, Y. Pang, H. Wang, Open Access M.A. Nazari, J.P. Munasinghe, D.R. Donahue, A. Jha, J.G. Smirniotopoulos, M.M. Miettinen, R.H. Knutsen, B.A. Kozel, Z. Zhuang, K. Pacak, and J.D. Heiss e428 Mutations in the m-AAA proteases AFG3L2 Open Access and SPG7 are causing isolated dominant optic atrophy e415 Neurologic outcomes in Friedreich ataxia: Study of M. Charif, A. Chevrollier, N. Gueguen, C. Bris, D. Gouden`ege, a single-site cohort V. Desquiret-Dumas, S. Leruez, E.Colin,A.Meunier,C.Vignal, V. Smirnov, S. Defoort-Dhellemmes, I. Drumare Bouvet, M. Pandolfo C. Goizet, M. Votruba, N. Jurkute, P. Yu-Wai-Man, F. Tagliavini, Open Access L. Caporali, C. La Morgia, V. Carelli, V. Procaccio, X. Zanlonghi, I. Meunier, P. Reynier, D. Bonneau, P. Amati-Bonneau, and e416 Polygenic risk scores of several subtypes of epilepsies G. Lenaers in a founder population Open Access C. Moreau, R.-M. R´ebillard, S. Wolking, J. Michaud, F. Tremblay, e430 A. Girard, J. Bouchard, B. Minassian, C. Laprise, P. Cossette, and Genotyping single nucleotide polymorphisms for S.L. Girard allele-selective therapy in Huntington disease Open Access D.O. Claassen, J. Corey-Bloom, E.R. Dorsey, M. Edmondson, S.K. Kostyk, M.S. LeDoux, R. Reilmann, H.D. Rosas, F. Walker, e417 Clinical and pathologic phenotype of a large family V. Wheelock, N. Svrzikapa, K.A. Longo, J. Goyal, S. Hung, and M.A. Panzara with heterozygous STUB1 mutation Open Access M.O. Mol, J.G.J. van
Load more

Recommended publications
  • Multiplex Families with Multiple System Atrophy
    ORIGINAL CONTRIBUTION Multiplex Families With Multiple System Atrophy Kenju Hara, MD, PhD; Yoshio Momose, MD, PhD; Susumu Tokiguchi, MD, PhD; Mitsuteru Shimohata, MD, PhD; Kenshi Terajima, MD, PhD; Osamu Onodera, MD, PhD; Akiyoshi Kakita, MD, PhD; Mitsunori Yamada, MD, PhD; Hitoshi Takahashi, MD, PhD; Motoyuki Hirasawa, MD, PhD; Yoshikuni Mizuno, MD, PhD; Katsuhisa Ogata, MD, PhD; Jun Goto, MD, PhD; Ichiro Kanazawa, MD, PhD; Masatoyo Nishizawa, MD, PhD; Shoji Tsuji, MD, PhD Background: Multiple system atrophy (MSA) has Results: Consanguineous marriage was observed in 1 been considered a sporadic disease, without patterns of of 4 families. Among 8 patients, 1 had definite MSA, 5 inheritance. had probable MSA, and 2 had possible MSA. The most frequent phenotype was MSA with predominant parkin- Objective: To describe the clinical features of 4 multi- sonism, observed in 5 patients. Six patients showed pon- plex families with MSA, including clinical genetic tine atrophy with cross sign or slitlike signal change at aspects. the posterolateral putaminal margin or both on brain mag- netic resonance imaging. Possibilities of hereditary atax- Design: Clinical and genetic study. ias, including SCA1 (ataxin 1, ATXN1), SCA2 (ATXN2), Machado-Joseph disease/SCA3 (ATXN1), SCA6 (ATXN1), Setting: Four departments of neurology in Japan. SCA7 (ATXN7), SCA12 (protein phosphatase 2, regula- tory subunit B, ␤ isoform; PP2R2B), SCA17 (TATA box Patients: Eight patients in 4 families with parkinson- binding protein, TBP) and DRPLA (atrophin 1; ATN1), ism, cerebellar ataxia, and autonomic failure with age at ␣ onset ranging from 58 to 72 years. Two siblings in each were excluded, and no mutations in the -synuclein gene family were affected with these conditions.
    [Show full text]
  • The Cerebellum in Sagittal Plane-Anatomic-MR Correlation: 2
    667 The Cerebellum in Sagittal Plane-Anatomic-MR Correlation: 2. The Cerebellar Hemispheres Gary A. Press 1 Thin (5-mm) sagittal high-field (1 .5-T) MR images of the cerebellar hemispheres James Murakami2 display (1) the superior, middle, and inferior cerebellar peduncles; (2) the primary white­ Eric Courchesne2 matter branches to the hemispheric lobules including the central, anterior, and posterior Dean P. Berthoty1 quadrangular, superior and inferior semilunar, gracile, biventer, tonsil, and flocculus; Marjorie Grafe3 and (3) several finer secondary white-matter branches to individual folia within the lobules. Surface features of the hemispheres including the deeper fissures (e.g., hori­ Clayton A. Wiley3 1 zontal, posterolateral, inferior posterior, and inferior anterior) and shallower sulci are John R. Hesselink best delineated on T1-weighted (short TRfshort TE) and T2-weighted (long TR/Iong TE) sequences, which provide greatest contrast between CSF and parenchyma. Correlation of MR studies of three brain specimens and 11 normal volunteers with microtome sections of the anatomic specimens provides criteria for identifying confidently these structures on routine clinical MR. MR should be useful in identifying, localizing, and quantifying cerebellar disease in patients with clinical deficits. The major anatomic structures of the cerebellar vermis are described in a companion article [1). This communication discusses the topographic relationships of the cerebellar hemispheres as seen in the sagittal plane and correlates microtome sections with MR images. Materials, Subjects, and Methods The preparation of the anatomic specimens, MR equipment, specimen and normal volunteer scanning protocols, methods of identifying specific anatomic structures, and system of This article appears in the JulyI August 1989 issue of AJNR and the October 1989 issue of anatomic nomenclature are described in our companion article [1].
    [Show full text]
  • Pediatrics-EOR-Outline.Pdf
    DERMATOLOGY – 15% Acne Vulgaris Inflammatory skin condition assoc. with papules & pustules involving pilosebaceous units Pathophysiology: • 4 main factors – follicular hyperkeratinization with plugging of sebaceous ducts, increased sebum production, Propionibacterium acnes overgrowth within follicles, & inflammatory response • Hormonal activation of pilosebaceous glands which may cause cyclic flares that coincide with menstruation Clinical Manifestations: • In areas with increased sebaceous glands (face, back, chest, upper arms) • Stage I: Comedones: small, inflammatory bumps from clogged pores - Open comedones (blackheads): incomplete blockage - Closed comedones (whiteheads): complete blockage • Stage II: Inflammatory: papules or pustules surrounded by inflammation • Stage III: Nodular or cystic acne: heals with scarring Differential Diagnosis: • Differentiate from rosacea which has no comedones** • Perioral dermatitis based on perioral and periorbital location • CS-induced acne lacks comedones and pustules are in same stage of development Diagnosis: • Mild: comedones, small amounts of papules &/or pustules • Moderate: comedones, larger amounts of papules &/or pustules • Severe: nodular (>5mm) or cystic Management: • Mild: topical – azelaic acid, salicylic acid, benzoyl peroxide, retinoids, Tretinoin topical (Retin A) or topical antibiotics [Clindamycin or Erythromycin with Benzoyl peroxide] • Moderate: above + oral antibiotics [Minocycline 50mg PO qd or Doxycycline 100 mg PO qd], spironolactone • Severe (refractory nodular acne): oral
    [Show full text]
  • Genomic Variants Reveal Differential Evolutionary Constraints on Human Transglutaminases and Point Towards Unrecognized Significance of Transglutaminase 2
    View metadata, citation and similar papers at core.ac.uk brought to you by CORE provided by University of Debrecen Electronic Archive RESEARCH ARTICLE Genomic variants reveal differential evolutionary constraints on human transglutaminases and point towards unrecognized significance of transglutaminase 2 Kiruphagaran Thangaraju1, RoÂbert KiraÂly1, MaÂte A. DemeÂny1, JaÂnos AndraÂs MoÂtyaÂn1, a1111111111 Mo nika Fuxreiter1,2, LaÂszlo FeÂsuÈs1,3* a1111111111 a1111111111 1 Department of Biochemistry and Molecular Biology, Faculty of Medicine, University of Debrecen, a1111111111 Debrecen, Hungary, 2 MTA-DE Momentum Laboratory of Protein Dynamics, Faculty of Medicine, University a1111111111 of Debrecen, Debrecen, Hungary, 3 MTA-DE Stem cell, Apoptosis and Genomics Research Group of Hungarian Academy of Sciences, Faculty of Medicine, University of Debrecen, Debrecen, Hungary * [email protected] OPEN ACCESS Abstract Citation: Thangaraju K, KiraÂly R, DemeÂny MA, AndraÂs MoÂtyaÂn J, Fuxreiter M, FeÂsuÈs L (2017) Transglutaminases (TGMs) catalyze Ca2+-dependent transamidation of proteins with speci- Genomic variants reveal differential evolutionary constraints on human transglutaminases and point fied roles in blood clotting (F13a) and in cornification (TGM1, TGM3). The ubiquitous TGM2 towards unrecognized significance of has well described enzymatic and non-enzymatic functions but in-spite of numerous studies transglutaminase 2. PLoS ONE 12(3): e0172189. its physiological function in humans has not been defined. We compared data on non-syn- doi:10.1371/journal.pone.0172189 onymous single nucleotide variations (nsSNVs) and loss-of-function variants on TGM1-7 Editor: Richard L. Eckert, University of Maryland and F13a from the Exome aggregation consortium dataset, and used computational and School of Medicine, UNITED STATES biochemical analysis to reveal the roles of damaging nsSNVs of TGM2.
    [Show full text]
  • TGM6 L517W Is Not a Pathogenic Variant for Spinocerebellar Ataxia Type 35
    ARTICLE OPEN ACCESS TGM6 L517W is not a pathogenic variant for spinocerebellar ataxia type 35 Yanxing Chen, MD, PhD, Dengchang Wu, MD, PhD, Benyan Luo, MD, PhD, Guohua Zhao, MD, PhD, and Correspondence Kang Wang, MD, PhD Dr. Zhao [email protected] Neurol Genet 2020;6:e424. doi:10.1212/NXG.0000000000000424 or Dr. Wang [email protected] Abstract Objective To investigate the pathogenicity of the TGM6 variant for spinocerebellar ataxia 35 (SCA35), which was previously reported to be caused by pathogenic mutations in the gene TGM6. Methods Neurologic assessment and brain MRI were performed to provide detailed description of the phenotype. Whole-exome sequencing and dynamic mutation analysis were performed to identify the genotype. Results The proband, presenting with myoclonic epilepsy, cognitive decline, and ataxia, harbored both the TGM6 p.L517W variant and expanded CAG repeats in gene ATN1. Further analysis of the other living family members in this pedigree revealed that the CAG repeat number was expanded in all the patients and within normal range in all the unaffected family members. However, the TGM6 p.L517W variant was absent in 2 affected family members, but present in 3 healthy individuals. Conclusions The nonsegregation of the TGM6 variant with phenotype does not support this variant as the disease-causing gene in this pedigree, questioning the pathogenicity of TGM6 in SCA35. From the Department of Neurology (Y.C., G.Z.), the Second Affiliated Hospital, School of Medicine, Zhejiang University; and Department of Neurology (D.W., B.L., K.W.), the First Affiliated Hospital, School of Medicine, Zhejiang University, Hangzhou, China.
    [Show full text]
  • Basilar Invagination: Case Report and Literature Review
    Accepted Manuscript Basilar Invagination: Case Report and Literature Review Nauman S. Chaudhry, MD, Alp Ozpinar, BS, Wenya Linda Bi, MD, PhD, Vamsidhar Chavakula, MD, John H. Chi, MD, MPH, Ian F. Dunn, MD PII: S1878-8750(15)00084-4 DOI: 10.1016/j.wneu.2015.02.007 Reference: WNEU 2716 To appear in: World Neurosurgery Please cite this article as: Chaudhry NS, Ozpinar A, Bi WL, Chavakula V, Chi JH, Dunn IF, Basilar Invagination: Case Report and Literature Review, World Neurosurgery (2015), doi: 10.1016/ j.wneu.2015.02.007. This is a PDF file of an unedited manuscript that has been accepted for publication. As a service to our customers we are providing this early version of the manuscript. The manuscript will undergo copyediting, typesetting, and review of the resulting proof before it is published in its final form. Please note that during the production process errors may be discovered which could affect the content, and all legal disclaimers that apply to the journal pertain. ACCEPTED MANUSCRIPT Basilar Invagination: Case Report and Literature Review Nauman S. Chaudhry, MD1*, Alp Ozpinar, BS2*, Wenya Linda Bi, MD, PhD1, Vamsidhar Chavakula, MD1, John H. Chi, MD, MPH1, Ian F. Dunn, MD1 1Department of Neurosurgery, Brigham and Women’s Hospital, Harvard Medical School, Boston, MA 2Department of Neurological Surgery, Oregon Health Sciences University, Portland, OR *These authors contributed equally Please address all correspondence to: Ian F. Dunn, M.D. Department of Neurosurgery Brigham and Women’s Hospital 15 Francis Street, PBB-3 Boston, MA 02115 Phone: 617-525-8371 Email: [email protected] Running Title: Anterior vs.
    [Show full text]
  • 8Th European Congress on Epileptology, Berlin, Germany, 21 – 25 September 2008
    Epilepsia, 50(Suppl. 4): 2–262, 2009 doi: 10.1111/j.1528-1167.2009.02063.x 8th ECE PROCEEDINGS 8th European Congress on Epileptology, Berlin, Germany, 21 – 25 September 2008 Sunday 21 September 2008 KV7 channels (KV7.1-5) are encoded by five genes (KCNQ1-5). They have been identified in the last 10–15 years by discovering the caus- 14:30 – 16:00 ative genes for three autosomal dominant diseases: cardiac arrhythmia Hall 1 (long QT syndrome, KCNQ1), congenital deafness (KCNQ1 and KCNQ4), benign familial neonatal seizures (BFNS, KCNQ2 and VALEANT PHARMACEUTICALS SATELLITE SYM- KCNQ3), and peripheral nerve hyperexcitability (PNH, KCNQ2). The fifth member of this gene family (KCNQ5) is not affected in a disease so POSIUM – NEURON-SPECIFIC M-CURRENT K+ CHAN- far. The phenotypic spectrum associated with KCNQ2 mutations is prob- NELS: A NEW TARGET IN MANAGING EPILEPSY ably broader than initially thought (i.e. not only BFNS), as patients with E. Perucca severe epilepsies and developmental delay, or with Rolando epilepsy University of Pavia, Italy have been described. With regard to the underlying molecular pathophys- iology, it has been shown that mutations in KCNQ2 and KCNQ3 Innovations in protein biology, coupled with genetic manipulations, have decrease the resulting K+ current thereby explaining the occurrence of defined the structure and function of many of the voltage- and ligand- epileptic seizures by membrane depolarization and increased neuronal gated ion channels, channel subunits, and receptors that are the underpin- firing. Very subtle changes restricted to subthreshold voltages are suffi- nings of neuronal hyperexcitability and epilepsy. Of the currently cient to cause BFNS which proves in a human disease model that this is available antiepileptic drugs (AEDs), no two act in the same way, but all the relevant voltage range for these channels to modulate the firing rate.
    [Show full text]
  • Supranuclear and Internuclear Ocular Motility Disorders
    CHAPTER 19 Supranuclear and Internuclear Ocular Motility Disorders David S. Zee and David Newman-Toker OCULAR MOTOR SYNDROMES CAUSED BY LESIONS IN OCULAR MOTOR SYNDROMES CAUSED BY LESIONS OF THE MEDULLA THE SUPERIOR COLLICULUS Wallenberg’s Syndrome (Lateral Medullary Infarction) OCULAR MOTOR SYNDROMES CAUSED BY LESIONS OF Syndrome of the Anterior Inferior Cerebellar Artery THE THALAMUS Skew Deviation and the Ocular Tilt Reaction OCULAR MOTOR ABNORMALITIES AND DISEASES OF THE OCULAR MOTOR SYNDROMES CAUSED BY LESIONS IN BASAL GANGLIA THE CEREBELLUM Parkinson’s Disease Location of Lesions and Their Manifestations Huntington’s Disease Etiologies Other Diseases of Basal Ganglia OCULAR MOTOR SYNDROMES CAUSED BY LESIONS IN OCULAR MOTOR SYNDROMES CAUSED BY LESIONS IN THE PONS THE CEREBRAL HEMISPHERES Lesions of the Internuclear System: Internuclear Acute Lesions Ophthalmoplegia Persistent Deficits Caused by Large Unilateral Lesions Lesions of the Abducens Nucleus Focal Lesions Lesions of the Paramedian Pontine Reticular Formation Ocular Motor Apraxia Combined Unilateral Conjugate Gaze Palsy and Internuclear Abnormal Eye Movements and Dementia Ophthalmoplegia (One-and-a-Half Syndrome) Ocular Motor Manifestations of Seizures Slow Saccades from Pontine Lesions Eye Movements in Stupor and Coma Saccadic Oscillations from Pontine Lesions OCULAR MOTOR DYSFUNCTION AND MULTIPLE OCULAR MOTOR SYNDROMES CAUSED BY LESIONS IN SCLEROSIS THE MESENCEPHALON OCULAR MOTOR MANIFESTATIONS OF SOME METABOLIC Sites and Manifestations of Lesions DISORDERS Neurologic Disorders that Primarily Affect the Mesencephalon EFFECTS OF DRUGS ON EYE MOVEMENTS In this chapter, we survey clinicopathologic correlations proach, although we also discuss certain metabolic, infec- for supranuclear ocular motor disorders. The presentation tious, degenerative, and inflammatory diseases in which su- follows the schema of the 1999 text by Leigh and Zee (1), pranuclear and internuclear disorders of eye movements are and the material in this chapter is intended to complement prominent.
    [Show full text]
  • Initial Sequencing and Comparative Analysis of the Mouse Genome
    articles Initial sequencing and comparative analysis of the mouse genome Mouse Genome Sequencing Consortium* *A list of authors and their af®liations appears at the end of the paper ........................................................................................................................................................................................................................... The sequence of the mouse genome is a key informational tool for understanding the contents of the human genome and a key experimental tool for biomedical research. Here, we report the results of an international collaboration to produce a high-quality draft sequence of the mouse genome. We also present an initial comparative analysis of the mouse and human genomes, describing some of the insights that can be gleaned from the two sequences. We discuss topics including the analysis of the evolutionary forces shaping the size, structure and sequence of the genomes; the conservation of large-scale synteny across most of the genomes; the much lower extent of sequence orthology covering less than half of the genomes; the proportions of the genomes under selection; the number of protein-coding genes; the expansion of gene families related to reproduction and immunity; the evolution of proteins; and the identi®cation of intraspecies polymorphism. With the complete sequence of the human genome nearly in hand1,2, covering about 90% of the euchromatic human genome, with about the next challenge is to extract the extraordinary trove of infor- 35% in ®nished form1. Since then, progress towards a complete mation encoded within its roughly 3 billion nucleotides. This human sequence has proceeded swiftly, with approximately 98% of information includes the blueprints for all RNAs and proteins, the genome now available in draft form and about 95% in ®nished the regulatory elements that ensure proper expression of all genes, form.
    [Show full text]
  • A Review on Parkinson's Disease Treatment
    Lee et al. Neuroimmunol Neuroinflammation 2021;8:[Online First] Neuroimmunology DOI: 10.20517/2347-8659.2020.58 and Neuroinflammation Review Open Access A review on Parkinson’s disease treatment Tori K. Lee, Eva L. Yankee Department of Biology, Pacific Union College, Angwin, CA 94508, USA. Correspondence to: Tori K. Lee, Department of Biology, Pacific Union College, 1 Angwin Ave, Angwin, CA 94508, USA. E-mail: [email protected] How to cite this article: Lee TK, Yankee EL. A review on Parkinson’s disease treatment. Neuroimmunol Neuroinflammation 2021;8:[Online First]. http://dx.doi.org/10.20517/2347-8659.2020.58 Received: 1 Oct 2020 First Decision: 1 Dec 2020 Revised: 15 Dec 2020 Accepted: 24 Dec 2020 Available online: 25 Jan 2021 Academic Editors: Athanassios P. Kyritsis, Backil Sung Copy Editor: Monica Wang Production Editor: Jing Yu Abstract Parkinson’s disease (PD) is a neurodegenerative illness and has a common onset between the ages of 55 and 65 years. There is progressive development of both motor and non-motor symptoms, greatly affecting one’s overall quality of life. While there is no cure, various treatments have been developed to help manage the symptoms of PD. Management of PD is a growing field and targets new treatment methods, as well as improvements to old ones. Pharmacological, surgical, and therapeutic treatments have allowed physicians to treat not only the main motor symptoms of PD, but target patient-specific problems as they arise. This review discusses both the established and new possibilities for PD treatment that can provide patient-specific care and mitigate side effects for common treatments.
    [Show full text]
  • Etats Rapides
    List of European Pharmacopoeia Reference Standards Effective from 2015/12/24 Order Reference Standard Batch n° Quantity Sale Information Monograph Leaflet Storage Price Code per vial Unit Y0001756 Exemestane for system suitability 1 10 mg 1 2766 Yes +5°C ± 3°C 79 ! Y0001561 Abacavir sulfate 1 20 mg 1 2589 Yes +5°C ± 3°C 79 ! Y0001552 Abacavir for peak identification 1 10 mg 1 2589 Yes +5°C ± 3°C 79 ! Y0001551 Abacavir for system suitability 1 10 mg 1 2589 Yes +5°C ± 3°C 79 ! Y0000055 Acamprosate calcium - reference spectrum 1 n/a 1 1585 79 ! Y0000116 Acamprosate impurity A 1 50 mg 1 3-aminopropane-1-sulphonic acid 1585 Yes +5°C ± 3°C 79 ! Y0000500 Acarbose 3 100 mg 1 See leaflet ; Batch 2 is valid until 31 August 2015 2089 Yes +5°C ± 3°C 79 ! Y0000354 Acarbose for identification 1 10 mg 1 2089 Yes +5°C ± 3°C 79 ! Y0000427 Acarbose for peak identification 3 20 mg 1 Batch 2 is valid until 31 January 2015 2089 Yes +5°C ± 3°C 79 ! A0040000 Acebutolol hydrochloride 1 50 mg 1 0871 Yes +5°C ± 3°C 79 ! Y0000359 Acebutolol impurity B 2 10 mg 1 -[3-acetyl-4-[(2RS)-2-hydroxy-3-[(1-methylethyl)amino] propoxy]phenyl] 0871 Yes +5°C ± 3°C 79 ! acetamide (diacetolol) Y0000127 Acebutolol impurity C 1 20 mg 1 N-(3-acetyl-4-hydroxyphenyl)butanamide 0871 Yes +5°C ± 3°C 79 ! Y0000128 Acebutolol impurity I 2 0.004 mg 1 N-[3-acetyl-4-[(2RS)-3-(ethylamino)-2-hydroxypropoxy]phenyl] 0871 Yes +5°C ± 3°C 79 ! butanamide Y0000056 Aceclofenac - reference spectrum 1 n/a 1 1281 79 ! Y0000085 Aceclofenac impurity F 2 15 mg 1 benzyl[[[2-[(2,6-dichlorophenyl)amino]phenyl]acetyl]oxy]acetate
    [Show full text]
  • CONGENITAL ABNORMALITIES of the CENTRAL NERVOUS SYSTEM Christopher Verity, Helen Firth, Charles Ffrench-Constant *I3
    J Neurol Neurosurg Psychiatry: first published as 10.1136/jnnp.74.suppl_1.i3 on 1 March 2003. Downloaded from CONGENITAL ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM Christopher Verity, Helen Firth, Charles ffrench-Constant *i3 J Neurol Neurosurg Psychiatry 2003;74(Suppl I):i3–i8 dvances in genetics and molecular biology have led to a better understanding of the control of central nervous system (CNS) development. It is possible to classify CNS abnormalities Aaccording to the developmental stages at which they occur, as is shown below. The careful assessment of patients with these abnormalities is important in order to provide an accurate prog- nosis and genetic counselling. c NORMAL DEVELOPMENT OF THE CNS Before we review the various abnormalities that can affect the CNS, a brief overview of the normal development of the CNS is appropriate. c Induction—After development of the three cell layers of the early embryo (ectoderm, mesoderm, and endoderm), the underlying mesoderm (the “inducer”) sends signals to a region of the ecto- derm (the “induced tissue”), instructing it to develop into neural tissue. c Neural tube formation—The neural ectoderm folds to form a tube, which runs for most of the length of the embryo. c Regionalisation and specification—Specification of different regions and individual cells within the neural tube occurs in both the rostral/caudal and dorsal/ventral axis. The three basic regions of copyright. the CNS (forebrain, midbrain, and hindbrain) develop at the rostral end of the tube, with the spinal cord more caudally. Within the developing spinal cord specification of the different popu- lations of neural precursors (neural crest, sensory neurones, interneurones, glial cells, and motor neurones) is observed in progressively more ventral locations.
    [Show full text]