Neuroacanthocytosis Syndromes II

  • Ruth H. Walker
  • Shinji Saiki
  • Adrian Danek

Table of contents

  1. Front Matter
    Pages i-xxvi
  2. The Neuroacanthocytosis Syndromes

    1. R. H. Walker, S. Saiki, A. Danek
      Pages 3-20
    2. S. A. Schneider, R. H. Walker, K. P. Bhatia
      Pages 21-42
    3. S. Gandhi, R. J. Hardie, A. J. Lees
      Pages 43-51
    4. H. H. Jung
      Pages 53-58
    5. R. L. Margolis, D. D. Rudnicki
      Pages 59-73
  3. Basic Research - Proteins and Erythrocytes

    1. A. Velayos-Baeza, C. Lévecque, C. Dobson-Stone, A. P. Monaco
      Pages 87-105
    2. G. W. Stewart, S. M. S. Wilmore, S. Ohno, N. Terada
      Pages 115-132
    3. Y. Tani, J. Takahashi, M. Tanaka, H. Shibata
      Pages 143-150
  4. Animal Models

    1. M. Nakamura, Y. Katoh, K. Yutaka, Y. Kurano, M. Ichiba, M. Matsuda et al.
      Pages 153-159
  5. The Structural Basis of Brain Involvement in Neuroacanthocytosis

    1. K. L. Leenders, H. H. Jung
      Pages 163-173
    2. K. Henkel, M. Walterfang, D. Velakoulis, A. Danek, J. Kassubek
      Pages 175-185
    3. B. Bader, T. Arzberger, H. Heinsen, C. Dobson-Stone, H. A. Kretzschmar, A. Danek
      Pages 187-195
    4. Felix Geser, Marcus Tolnay, H. H. Jung
      Pages 197-203
    5. A. Danek, M. Neumann, M. F. Brin, W. A. Symmans, A. P. Hays
      Pages 205-215
  6. Clinical Aspects and Therapy

    1. S. Saiki, Y. Tamura
      Pages 225-237

About this book

Introduction

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.

 

Keywords

Neurorehabilitation Rehabilitation basal ganglia chorea erythrocytes genes neurodegeneration neurosurgery

Editors and affiliations

  • Ruth H. Walker
    • 1
    • 2
  • Shinji Saiki
    • 3
  • Adrian Danek
    • 4
  1. 1.Movement Disorders Clinic Department of NeurologyJames J. Peters Veterans Affairs Medical CenterBronx
  2. 2.Department of NeurologyMount Sinai School of MedicineNew YorkUSA
  3. 3.Department of Medical Genetics Cambridge Institute for Medical Research Wellcome Trust/MRC BuildingAddenbrooke’s HospitalCambridgeUK
  4. 4.Neurologische KlinikLudwig-Maximilians-UniversitätMünchenGermany

Bibliographic information

  • DOI https://doi.org/10.1007/978-3-540-71693-8
  • Copyright Information Springer-Verlag Berlin Heidelberg 2008
  • Publisher Name Springer, Berlin, Heidelberg
  • eBook Packages Biomedical and Life Sciences
  • Print ISBN 978-3-540-71692-1
  • Online ISBN 978-3-540-71693-8
  • About this book