EFNS guidelines for the molecular diagnosis of neurogenetic disorders: motoneuron, peripheral nerve and muscle disorders.
J.-M. Burgunder,Ludger Schöls,Jonathan Baets,Peter M. Andersen,Thomas Gasser,Z. Szolnoki,Bertrand Fontaine,C. Van Broeckhoven,S. Di Donato,P. De Jonghe,T. Lynch,Caterina Mariotti,Antonella Spinazzola,Sarah J. Tabrizi,Chantal M. E. Tallaksen,Massimo Zeviani,Hanne F. Harbo,Josef Finsterer +17 more
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TLDR
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.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.read more
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Amyotrophic Lateral Sclerosis: A Focus on Disease Progression
Ana C. Calvo,Raquel Manzano,Deise M. F. Mendonça,María Jesús Muñoz,Pilar Zaragoza,Rosario Osta +5 more
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TL;DR: The biology of the inherited peripheral neuropathies is reviewed, major phenotypic features of the CMT subtypes are delineated, and strategies for focusing genetic testing are suggested.
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Ana C. Calvo,Raquel Manzano,Gabriela Atencia-Cibreiro,Sara Oliván,María Jesús Muñoz,Pilar Zaragoza,Pilar Cordero-vázquez,Jesús Esteban-Pérez,Alberto García-Redondo,Rosario Osta +9 more
TL;DR: Five genes could be considered potential genetic biomarkers of longevity in transgenic SOD1G93A mice, and may lead to the exploration of previously unexamined tissues in the search for new disease biomarkers and even to the application of these findings in human studies.
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Inherited peripheral neuropathies.
TL;DR: In this article, the authors provide illustrative cases to help in dealing with inherited neuropathies and how to keep track of all of these disorders, when to pursue genetic testing and what tests to order for specific patients are difficult challenges for any neurologist.
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ATXN2 CAG repeat expansions increase the risk for Chinese patients with amyotrophic lateral sclerosis.
TL;DR: The data indicate that, for ALS patients from mainland China, intermediate CAG repeat expansions in ATXN2 increase the risk of ALS but have no effect on disease phenotype.
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Michael Brainin,Michael P. Barnes,J-C. Baron,Nils Erik Gilhus,Richard A. C. Hughes,K. Selmaj,Gunhild Waldemar +6 more
TL;DR: The EFNS guidelines for the treatment and management of neurological diseases have been published by the EFNS (http://www.efns.org/guidelines) since 1997 as discussed by the authors.