8. Molecular Diagnosis of Neurogenetic Disorders: Motoneuron, Peripheral Nerve and Muscle Disorders

  1. Nils Erik Gilhus MD, PHD15,16,
  2. Michael P. Barnes MD, FRCP17,18 and
  3. Michael Brainin MD19,20,21
  1. J-M. Burgunder1,
  2. L. Schöls2,
  3. J. Baets3,4,5,
  4. P. Andersen6,
  5. T. Gasser2,
  6. Z. Szolnoki7,
  7. B. Fontaine8,
  8. C. Van Broeckhoven4,5,
  9. S. Di Donato9,
  10. P. De Jonghe3,4,5,
  11. T. Lynch10,
  12. C. Mariotti11,
  13. A. Spinazzola11,
  14. S. J. Tabrizi12,
  15. C. Tallaksen13,
  16. M. Zeviani14,
  17. H. F. Harbo12 and
  18. J. Finsterer14

Published Online: 21 SEP 2011

DOI: 10.1002/9781444346268.ch8

European Handbook of Neurological Management, Volume 2, Second Edition

European Handbook of Neurological Management, Volume 2, Second Edition

How to Cite

Burgunder, J.-M., Schöls, L., Baets, J., Andersen, P., Gasser, T., Szolnoki, Z., Fontaine, B., Van Broeckhoven, C., Di Donato, S., De Jonghe, P., Lynch, T., Mariotti, C., Spinazzola, A., Tabrizi, S. J., Tallaksen, C., Zeviani, M., Harbo, H. F. and Finsterer, J. (2011) Molecular Diagnosis of Neurogenetic Disorders: Motoneuron, Peripheral Nerve and Muscle 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.ch8

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 Bern, Switzerland

  2. 2

    University of Tübingen, Tübingen, Germany

  3. 3

    University Hospital of Antwerp, Antwerp, Belgium

  4. 4

    VIB; Antwerp, Belgium

  5. 5

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

  6. 6

    Umeå University, Umeå, Sweden

  7. 7

    Pandy County Hospital, Gyula, Hungary

  8. 8

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

  9. 9

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

  10. 10

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

  11. 11

    IRCCS Foundation, Neurological Institute Carlo Besta, Milan, Italy

  12. 12

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

  13. 13

    University Hospital, Ullevål, Oslo, Norway Faculty Division Ullevål University Hospital, University of Oslo, Oslo, Norway

  14. 14

    KA Rudolfstiftung, Vienna and Danube University Krems, Austria

Publication History

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

ISBN Information

Print ISBN: 9781405185349

Online ISBN: 9781444346268



  • molecular diagnosis of neurogenetic disorders-motoneuron, muscle disorders;
  • EFNS guidelines, and motoneuron disorders-polyneuropathies and myopathies;
  • proximal spinal muscular atrophy (SMA)-common and severe autosomal-recessive diseases of children;
  • amyotrophic lateral sclerosis-familial forms, with amyotrophic lateral sclerosis (ALS);
  • Charcot-Marie-Tooth disease-disease onset in CMT, progression slow;
  • molecular diagnosis of inherited neuropathies;
  • muscle dystrophies-Duchenne/Becker muscular dystrophy (DMD/BMD), X-linked recessive condition;
  • genetic basis for DM1-a CTG repeats expansion in DMPK gene on 19q13;
  • other myopathies-distal myopathies, muscular dystrophies with distal upper and lower extremities;
  • myofibrillar myopathies-and specific cytoplasmatic inclusions


Objectives: The EFNS guidelines on the molecular diagnosis of motoneuron disorders, neuropathies and myopathies are designed to summarize the possibilities and limitations of molecular genetic techniques and to provide diagnostic criteria for deciding when a molecular diagnostic work-up is indicated.

Search strategy: To collect data about the planning, conditions and performance of molecular diagnosis of these disorders, a literature search in various electronic databases was carried out and original papers, meta-analyses, review papers and guideline recommendations reviewed.

Results: The best level of evidence for genetic testing recommendation (Level B) can be found for the disorders with specific presentations, including familial ALS, spinal and bulbar muscular atrophy, Charcot-Marie-Tooth 1A, myotonic dystrophy and Duchenne muscular dystrophy. For a number of less common disorders a precise description of the phenotype, including the use of immunological methods in the case of myopathies, is considered good clinical practice to guide molecular genetic testing.

Conclusion: These guidelines are provisional and the availability of molecular-genetic epidemiological data in the future about the neurogenetic disorders under discussion in the present paper will allow improved recommendation with an increased level of evidence.