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

doi:10.1111/j.1468-1331.2009.02873.x

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

Fondazione IRCCS Istituto Neurologico "C. Besta"

Research output: Contribution to journal › Article › peer-review

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 language	English
Pages (from-to)	179-188
Number of pages	10
Journal	European Journal of Neurology
Volume	17
Issue number	2
DOIs	https://doi.org/10.1111/j.1468-1331.2009.02873.x
Publication status	Published - Feb 2010

Keywords

Ataxias
Genetic testing
Hereditary disease
Molecular genetics
Spastic paraplegia

ASJC Scopus subject areas

Clinical Neurology
Neurology

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10.1111/j.1468-1331.2009.02873.x

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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

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

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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.",

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doi = "10.1111/j.1468-1331.2009.02873.x",

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AU - Finsterer, J.

AU - Baets, J.

AU - Van Broeckhoven, C.

AU - Di Donato, S.

AU - Fontaine, B.

AU - De Jonghe, P.

AU - Lossos, A.

AU - Lynch, T.

AU - Mariotti, C.

AU - Schöls, L.

AU - Spinazzola, A.

AU - Szolnoki, Z.

AU - Tabrizi, S. J.

AU - Tallaksen, C. M E

AU - Zeviani, M.

AU - Burgunder, J. M.

AU - Harbo, H. F.

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AB - 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.

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EFNS guidelines on the molecular diagnosis of ataxias and spastic paraplegias

Abstract

Keywords

ASJC Scopus subject areas

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