rdf-syntax-grammar
mods:
  schema location: http://www.loc.gov/mods/v3 http://www.loc.gov/standards/mods/v3/mods-3-2.xsd
  title info:
    title: Neuroacanthocytosis Syndromes II
  name:
    name part: Walker, Ruth H.
    role:
      role term: editor.
  name:
    name part: Saiki, Shinji.
    role:
      role term: editor.
  name:
    name part: Danek, Adrian.
    role:
      role term: editor.
  name:
    name part: SpringerLink (Online service)
  type of resource: text
  origin info:
    place:
      place term: gw
    date issued: 2008
    issuance: monographic
  language:
    language term: eng
  physical description:
    form: electronic
    form: electronic resource
    reformatting quality: access
    form: remote
    extent: XXVI, 295 p. online resource.
  abstract: Neuroacanthocytosis refers to a group of rare neurodegenerative disorders, the symptoms of which typically resemble Huntington’s disease. One defining feature is the presence of thorny red blood cells (acanthocytes); however, neither the role of the genetic mutations in causing acanthocytosis, nor the connection with the basal ganglia neurodegeneration, is yet understood. At present there is no cure for these disorders and treatment is purely symptomatic. Awareness of neuroacanthocytosis disorders has increased significantly in recent years. There have been a number of important developments in the field since the publication of the first volume, Neuroacanthocytosis Syndromes. This book contains the latest research in this area. Recent advances have identified the range of mutations in the causative genes, shedding light on potential phenotype­genotype correlations. Studies of the proteins affected in these disorders have resulted in increased understanding of their functions and distribution. In vitro studies have identified potential protein interactions, which have important implications for pathophysiology. Work on erythrocyte membranes suggests mechanisms for the generation of acanthocytes. Animal models are being generated which will greatly facilitate understanding the role of gene mutations in humans, and provide the foundation for possible therapeutic interventions. In addition, advances in other neurodegenerative disorders, such as Huntington’s and Parkinson’s diseases, have implications for neuroacanthocytosis. .
  table of contents: The Neuroacanthocytosis Syndromes -- Neuroacanthocytosis Syndromes — A Current Overview -- Differential Diagnosis of Chorea -- An Update on the Hardie Neuroacanthocytosis Series -- Update on McLeod Syndrome -- Huntington’s Disease-Like 2 -- Neuroacanthocytosis in Japan — Review of the Literature and Cases -- Basic Research - Proteins and Erythrocytes -- The Function of Chorein -- Recent Studies of Kell and XK: Expression Profi les of Mouse Kell and XK mRNA -- Questions of Cell Shape -- Neuroacanthocytosis-Related Changes in Erythrocyte Membrane Organization and Function -- McLeod Syndrome: A Perspective from Japanese Blood Centers -- Animal Models -- A Mouse Model of Chorea-Acanthocytosis -- The Structural Basis of Brain Involvement in Neuroacanthocytosis -- Functional Imaging in Neuroacanthocytosis -- Volumetric Neuroimaging in Neuroacanthocytosis -- Neuropathology of Chorea-Acanthocytosis -- The Neuropathology of McLeod Syndrome -- Cerebral Involvement in McLeod Syndrome: The First Autopsy Revisited -- Clinical Aspects and Therapy -- Psychiatric Morbidity in Neuroacanthocytosis -- Muscular Aspects of Chorea-Acanthocytosis -- Autonomic Dysfunction in Neuroacanthocytosis and Causes of Sudden Death: Analysis of a Case of Chorea-Acanthocytosis with Dysautonomia -- Sleep Disorders in Neuroacanthocytosis -- Neurosurgery for Neuroacanthocytosis -- Multidisciplinary Neurorehabilitation in Chorea-Acanthocytosis: A Case Study -- The Way Forward -- “Virtual Neuroacanthocytosis Institute”: A Look Forward.
  note: edited by Ruth H. Walker, Shinji Saiki, Adrian Danek.
  subject:
    topic: Medicine
  subject:
    topic: Human genetics
  subject:
    topic: Neurosciences
  subject:
    topic: Neurology
  subject:
    topic: Biomedicine
  subject:
    topic: Neurosciences
  subject:
    topic: Neurology
  subject:
    topic: Human Genetics
  classification: RC321-580
  classification: 612.8
  related item:
    title info:
      title: Springer eBooks
  identifier: 9783540716938
  identifier: http://dx.doi.org/10.1007/978-3-540-71693-8
  record info:
    record creation date: 100301
    record change date: 20150520194036.0
    record identifier: 978-3-540-71693-8