5. Molecular Diagnosis of Mitochondrial Disorders
- Nils Erik Gilhus MD, PHD13,14,
- Michael P. Barnes MD, FRCP15,16 and
- Michael Brainin MD17,18,19
Published Online: 21 SEP 2011
Copyright © 2012 Blackwell Publishing Ltd
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
Department of Clinical Medicine, University of Bergen, Norway
Department of Neurology, Haukeland University Hospital, Bergen, Norway
University of Newcastle, Newcastle upon Tyne, UK
Hunters Moor Neurorehabilitation Ltd, Newcastle upon Tyne, UK
Department of Clinical Medicine and Prevention, Austria
Center for Clinical Neurosciences, Donau-Universität Krems, Austria
Department of Neurology, Landesklinikum Donauregion Tulln, Tulln, Austria
- Published Online: 21 SEP 2011
- Published Print: 30 SEP 2011
Print ISBN: 9781405185349
Online ISBN: 9781444346268
- molecular genetics;
- hereditary disease;
- 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.