6. Molecular Diagnosis of Ataxias and Spastic Paraplegias

  1. Nils Erik Gilhus MD, PHD15,16,
  2. Michael P. Barnes MD, FRCP17,18 and
  3. Michael Brainin MD19,20,21
  1. T. Gasser1,
  2. J. Finsterer2,
  3. J. Baets3,4,5,
  4. C. Van Broeckhoven4,5,
  5. S. Di Donato6,
  6. B. Fontaine7,
  7. P. De Jonghe3,4,
  8. A. Lossos8,
  9. T. Lynch9,
  10. C. Mariotti10,
  11. L. Schöls1,
  12. A. Spinazzola10,
  13. Z. Szolnoki10,
  14. S. J. Tabrizi12,
  15. C. M. E. Tallaksen13,
  16. M. Zeviani10,
  17. J-M. Burgunder14 and
  18. H. F. Harbo13

Published Online: 21 SEP 2011

DOI: 10.1002/9781444346268.ch6

European Handbook of Neurological Management, Volume 2, Second Edition

European Handbook of Neurological Management, Volume 2, Second Edition

How to Cite

Gasser, T., Finsterer, J., Baets, J., Van Broeckhoven, C., Di Donato, S., Fontaine, B., De Jonghe, P., Lossos, A., Lynch, T., Mariotti, C., Schöls, L., Spinazzola, A., Szolnoki, Z., Tabrizi, S. J., Tallaksen, C. M. E., Zeviani, M., Burgunder, J.-M. and Harbo, H. F. (2011) Molecular Diagnosis of Ataxias and Spastic Paraplegias, in European Handbook of Neurological Management, Volume 2, Second Edition (eds N. E. Gilhus, M. P. Barnes and M. Brainin), Wiley-Blackwell, Oxford, UK. doi: 10.1002/9781444346268.ch6

Editor Information

  1. 15

    Department of Clinical Medicine, University of Bergen, Norway

  2. 16

    Department of Neurology, Haukeland University Hospital, Bergen, Norway

  3. 17

    University of Newcastle, Newcastle upon Tyne, UK

  4. 18

    Hunters Moor Neurorehabilitation Ltd, Newcastle upon Tyne, UK

  5. 19

    Department of Clinical Medicine and Prevention, Austria

  6. 20

    Center for Clinical Neurosciences, Donau-Universität Krems, Austria

  7. 21

    Department of Neurology, Landesklinikum Donauregion Tulln, Tulln, Austria

Author Information

  1. 1

    University of Tübingen, and German Center for Neurodegenerative Diseases (DZNE), Tübingen, Germany

  2. 2

    Rudolfstiftung and Danube University, Krems, Vienna, Austria

  3. 3

    University Hospital of Antwerp, Antwerpen, Belgium

  4. 4

    VIB, Antwerpen, Belgium

  5. 5

    Institute Born-Bunge, University of Antwerp, Antwerp, Belgium

  6. 6

    Fondazione-IRCCS, Istituto Neurologico Carlo Besta, Milan, Italy

  7. 7

    Assistance Publique-Hôpitaux de Paris, Centre de référence des canalopathies musculaires, Groupe Hospitalier, Pitié-Salpêtrière, Paris, France

  8. 8

    Hadassah University Hospital, Jerusalem, Israel

  9. 9

    Mater Misericordiae University, Beaumont & Mater Private Hospitals, Dublin, Ireland

  10. 10

    IRCCS Foundation, Neurological Institute Carlo Besta, Milan, Italy

  11. 12

    Institute of Neurology and National Hospital for Neurology and Neurosurgery, Queen Square, London, UK

  12. 13

    Oslo University Hospital, and Faculty of Medicine, University of Oslo, Oslo, Norway

  13. 14

    University of Bern, Bern, Switzerland

Publication History

  1. Published Online: 21 SEP 2011
  2. Published Print: 30 SEP 2011

ISBN Information

Print ISBN: 9781405185349

Online ISBN: 9781444346268

SEARCH

Keywords:

  • ataxias;
  • genetic testing;
  • hereditary disease;
  • molecular genetics;
  • spastic paraplegia

Summary

The molecular basis of an increasing number of inherited neurological diseases has been elucidated during recent years, and molecular diagnosis of these disorders is becoming a matter of clinical practice. This progress has been particularly evident in the field of the hereditary ataxias and spastic paraplegias. The EFNS guidelines attempt to provide practical help for the clinical neurologist to make appropriate use of the possibilities of molecular testing in these two complex groups of disorders. The guidelines summarize the possibilities and limitations of molecular genetic diagnosis and discuss practical issues, such as diagnostic criteria, to inform the decision whether or not a molecular diagnostic work-up should be initiated.