5. Molecular Diagnosis of Mitochondrial Disorders

  1. Nils Erik Gilhus MD, PHD13,14,
  2. Michael P. Barnes MD, FRCP15,16 and
  3. Michael Brainin MD17,18,19
  1. J. Finsterer1,
  2. H. F. Harbo2,
  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.ch5

European Handbook of Neurological Management, Volume 2, Second Edition

European Handbook of Neurological Management, Volume 2, Second Edition

How to Cite

Finsterer, J., Harbo, H. F., 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 Mitochondrial Disorders, 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.ch5

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

    Rudolfstiftung and Danube University, Krems, Vienna, Austria

  2. 2

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

  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 andNeurosurgery, 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



  • molecular genetics;
  • hereditary disease;
  • encephalomyopathies;
  • metabolic myopathies;
  • mitochondrial myopathy


Objectives: These EFNS guidelines are designed to provide practical help for the general neurologist to make appropriate use of molecular genetics for diagnosing mitochondrial disorders (MIDs), which are gaining increasing attention and are now more frequently diagnosed due to improved diagnostic tools.

Background: Since the publication of the first EFNS guidelines on the molecular diagnosis of inherited neurological diseases in 2001, rapid progress has been made in this field, necessitating an updated version.

Search strategy: To collect data on the molecular diagnosis of MIDs, a search for literature in various electronic databases, such as the Cochrane library, Medline, OMIM, GENETEST and Embase, was carried out and original papers, meta-analyses, review papers and guideline recommendations were reviewed.

Results: The guidelines summarize the possibilities and limitations of molecular genetic diagnosis of MIDs and provide practical recommendations and diagnostic criteria in accordance with the EFNS Scientific Committee to guide the molecular diagnostic work-up of MIDs.

Recommendations: The proposed guidelines suggest an approach to the molecular diagnosis of MIDs that is accessible to general neurologists.