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: Article

36 Citations (Scopus)

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 - febr. 2010

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Paraplegia
Ataxia
Advisory Committees
Guidelines
Molecular Biology
Inborn Genetic Diseases

ASJC Scopus subject areas

  • Clinical Neurology
  • Neurology

Cite this

Gasser, T., Finsterer, J., Baets, J., Van Broeckhoven, C., Di Donato, S., Fontaine, B., ... 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

EFNS guidelines on the molecular diagnosis of ataxias and spastic paraplegias. / 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.

In: European Journal of Neurology, Vol. 17, No. 2, 02.2010, p. 179-188.

Research output: Article

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, SJ, Tallaksen, CME, Zeviani, M, Burgunder, JM & Harbo, HF 2010, 'EFNS guidelines on the molecular diagnosis of ataxias and spastic paraplegias', European Journal of Neurology, vol. 17, no. 2, pp. 179-188. https://doi.org/10.1111/j.1468-1331.2009.02873.x
Gasser T, Finsterer J, Baets J, Van Broeckhoven C, Di Donato S, Fontaine B et al. EFNS guidelines on the molecular diagnosis of ataxias and spastic paraplegias. European Journal of Neurology. 2010 febr.;17(2):179-188. https://doi.org/10.1111/j.1468-1331.2009.02873.x
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. / EFNS guidelines on the molecular diagnosis of ataxias and spastic paraplegias. In: European Journal of Neurology. 2010 ; Vol. 17, No. 2. pp. 179-188.
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