EFNS guidelines on the molecular diagnosis of ataxias and spastic paraplegias

T. Gasser, J. Finsterer, J. Baets, C. Van Broeckhoven, S. Di Donato, B. Fontaine, P. De Jonghe, A. Lossos, T. Lynch, C. Mariotti, L. Schöls, A. Spinazzola, Z. Szolnoki, S. J. Tabrizi, C. M E Tallaksen, M. Zeviani, J. M. Burgunder, H. F. Harbo

Research output: Contribution to journalArticle

Abstract

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.

Original languageEnglish
Pages (from-to)179-188
Number of pages10
JournalEuropean Journal of Neurology
Volume17
Issue number2
DOIs
Publication statusPublished - Feb 2010

Keywords

  • Ataxias
  • Genetic testing
  • Hereditary disease
  • Molecular genetics
  • Spastic paraplegia

ASJC Scopus subject areas

  • Clinical Neurology
  • Neurology

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    Gasser, T., Finsterer, J., 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. M. E., Zeviani, M., Burgunder, J. M., & Harbo, H. F. (2010). EFNS guidelines on the molecular diagnosis of ataxias and spastic paraplegias. European Journal of Neurology, 17(2), 179-188. https://doi.org/10.1111/j.1468-1331.2009.02873.x