EFNS guidelines on the molecular diagnosis of ataxias and spastic paraplegias
| Autor: | Alexander Lossos, J.-M. Burgunder, Massimo Zeviani, Timothy Lynch, Chantal M. E. Tallaksen, Bertrand Fontaine, Z. Szolnoki, S. Di Donato, C. Van Broeckhoven, T. Gasser, P. De Jonghe, Josef Finsterer, Caterina Mariotti, Jonathan Baets, Ludger Schöls, Hanne F. Harbo, Antonella Spinazzola, Sarah J. Tabrizi |
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| Rok vydání: | 2009 |
| Předmět: |
medicine.medical_specialty
medicine.diagnostic_test Task force business.industry MEDLINE Appropriate use medicine.disease Spastic Paraplegias Physical medicine and rehabilitation Neurology Molecular genetics medicine Physical therapy Spinocerebellar ataxia Neurology (clinical) Genetic diagnosis business Genetic testing |
| Zdroj: | European Journal of Neurology. 17:179-188 |
| ISSN: | 1351-5101 |
| DOI: | 10.1111/j.1468-1331.2009.02873.x |
| Popis: | Background and purpose: These EFNS guidelines on the molecular diagnosis of neurogenetic disorders are designed to provide practical help for the general neurologist to make appropriate use of molecular genetics in diagnosing neurogenetic disorders. Methods: Literature searches were performed before expert members of the task force wrote proposals, which were discussed in detail until final consensus had been reached among all task force members. Results and conclusion: This paper provides updated guidelines for molecular diagnosis of two particularly complex groups of disorders, the ataxias and spastic paraplegias. Possibilities and limitations of molecular genetic diagnosis of these disorders are evaluated and recommendations are provided. |
| Databáze: | OpenAIRE |
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