J-M Burgunder1, L Schöls2, J Baets3,4,5, P Andersen6, T Gasser7, Z Szolnoki8, B Fontaine9, C Van Broeckhoven4,5, S Di Donato10, P De Jonghe3,4,5, T Lynch11, C Mariotti12, A Spinazzola13, S J Tabrizi14, C Tallaksen15, M Zeviani10, H F Harbo15, J Finsterer16. 1. Department of Neurology, University of Bern, Switzerland. 2. Clinical Neurogenetics, Hertie-Institute for Clinical Brain Research, and German Center for Neurodegenerative Diseases University of Tübingen, Tübingen, Germany. 3. Department of Neurology, University Hospital of Antwerp, Antwerpen, Belgium. 4. Department of Molecular Genetics, VIB; Antwerpen, Belgium. 5. Laboratory of Neurogenetics, Institute Born-Bunge, and University of Antwerp, Antwerpen, Belgium. 6. Institute of Clinical Neuroscience, Umeå University, Umeå, Sweden. 7. Department of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research, and German Center for Neurodegenerative Diseases of Tübingen, Tübingen, Germany. 8. Department of Neurology and Cerebrovascular Diseases, Pandy County Hospital, Gyula, Hungary. 9. Assistance Publique-Hôpitaux de Paris, Centre de référence des canalopathies musculaires, Groupe Hospitalier Pitié-Salpêtrière, Paris, France. 10. Fondazione-IRCCS, Istituto Neurologico Carlo Besta, Milan, Italy. 11. The Dublin Neurological Institute, Mater Misericordiae University, Beaumont & Mater Private Hospitals, Dublin, Ireland. 12. Unit of Genetic of Neurodegenerative and Metabolic Diseases, IRCCS Foundation, Neurological Institute Carlo Besta, Milan, Italy. 13. Division of Molecular Neurogenetics, IRCCS Foundation Neurological Institute Carlo Besta, Milan, Italy. 14. Department of Neurodegenerative Disease, Institute of Neurology and National Hospital for Neurology and Neurosurgery, Queen Square, London, UK. 15. Department of Neurology, Oslo University Hospital, Ullevål, Oslo; Norway Faculty Division, Ullevål University Hospital, University of Oslo, Oslo, Norway. 16. Department of Neurology, KA Rudolfstiftung, Vienna and Danube University Krems, Austria.
Abstract
OBJECTIVES: These 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 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 (B) can be found for the disorders with specific presentations, including familial amyotrophic lateral sclerosis, 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 immunologic methods in the case of myopathies, is considered as good clinical practice to guide molecular genetic testing. CONCLUSION: These guidelines are provisional and the future availability of molecular-genetic epidemiological data about the neurogenetic disorders under discussion in this article will allow improved recommendation with an increased level of evidence.
OBJECTIVES: These 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 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 (B) can be found for the disorders with specific presentations, including familial amyotrophic lateral sclerosis, 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 immunologic methods in the case of myopathies, is considered as good clinical practice to guide molecular genetic testing. CONCLUSION: These guidelines are provisional and the future availability of molecular-genetic epidemiological data about the neurogenetic disorders under discussion in this article will allow improved recommendation with an increased level of evidence.
Authors: Ana C Calvo; Raquel Manzano; Gabriela Atencia-Cibreiro; Sara Oliván; María J Muñoz; Pilar Zaragoza; Pilar Cordero-Vázquez; Jesús Esteban-Pérez; Alberto García-Redondo; Rosario Osta Journal: PLoS One Date: 2012-03-07 Impact factor: 3.240
Authors: Ana C Calvo; Raquel Manzano; Deise M F Mendonça; María J Muñoz; Pilar Zaragoza; Rosario Osta Journal: Biomed Res Int Date: 2014-08-03 Impact factor: 3.411
Authors: Sara Oliván; Ana Cristina Calvo; Samanta Gasco; María Jesús Muñoz; Pilar Zaragoza; Rosario Osta Journal: PLoS One Date: 2015-08-05 Impact factor: 3.240