4. Molecular Diagnosis of Neurogenetic Disorders: General Issues, Huntington's Disease, Parkinson's Disease and Dystonias

  1. Nils Erik Gilhus MD, PHD13,14,
  2. Michael P. Barnes MD, FRCP15,16 and
  3. Michael Brainin MD17,18,19
  1. H. F. Harbo1,
  2. J. Finsterer2,
  3. J. Baets3,4,
  4. C. Van Broeckhoven4,
  5. S. Di Donato5,
  6. B. Fontaine6,
  7. P. De Jonghe3,4,
  8. A. Lossos7,
  9. T. Lynch8,
  10. C. Mariotti5,
  11. L. Schöls9,
  12. A. Spinazzola5,
  13. Z. Szolnoki10,
  14. S. J. Tabrizi11,
  15. C. Tallaksen1,
  16. M. Zeviani5,
  17. J-M. Burgunder12 and
  18. T. Gasser9

Published Online: 21 SEP 2011

DOI: 10.1002/9781444346268.ch4

European Handbook of Neurological Management, Volume 2, Second Edition

European Handbook of Neurological Management, Volume 2, Second Edition

How to Cite

Harbo, H. F., 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., Zeviani, M., Burgunder, J.-M. and Gasser, T. (2011) Molecular Diagnosis of Neurogenetic Disorders: General Issues, Huntington's Disease, Parkinson's Disease and Dystonias, 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.ch4

Editor Information

  1. 13

    Department of Clinical Medicine, University of Bergen, Norway

  2. 14

    Department of Neurology, Haukeland University Hospital, Bergen, Norway

  3. 15

    University of Newcastle, Newcastle upon Tyne, UK

  4. 16

    Hunters Moor Neurorehabilitation Ltd, Newcastle upon Tyne, UK

  5. 17

    Department of Clinical Medicine and Prevention, Austria

  6. 18

    Center for Clinical Neurosciences, Donau-Universität Krems, Austria

  7. 19

    Department of Neurology, Landesklinikum Donauregion Tulln, Tulln, Austria

Author Information

  1. 1

    Oslo University Hospital, and University of Oslo, Oslo, Norway

  2. 2

    Rudolfstiftung and Danube University, Krems, Vienna, Austria

  3. 3

    University Hospital of Antwerp, Antwerp, Belgium

  4. 4

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

  5. 5

    IRCCS Foundation Neurological Institute Carlo Besta, Milan, Italy

  6. 6

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

  7. 7

    Hadassah University Hospital, Jerusalem, Israel

  8. 8

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

  9. 9

    University of Tübingen, Tübingen, Germany

  10. 10

    Pandy County Hospital, Gyula, Hungary

  11. 11

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

  12. 12

    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

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Keywords:

  • dystonia;
  • EFNS Task Force;
  • Huntington's disease;
  • molecular diagnosis;
  • neurogenetic;
  • Parkinson disease

Summary

These EFNS guidelines on the molecular diagnosis of neurogenetic disorders are designed to provide practical help for the general neurologist to make appropriate use of molecular genetics in diagnosing neurogenetic disorders. Since the publication of the first two EFNS guideline papers on the molecular diagnosis of neurological diseases in 2001, rapid progress has been made in this field, necessitating an updated series of guidelines. This chapter provides updated guidelines for molecular diagnosis of Huntington's disease, Parkinson disease and dystonias, as well as a general introduction to the topic. Possibilities and limitations of molecular genetic diagnosis of these disorders are evaluated and recommendations are provided.