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 |
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Pages (from-to) | 179-188 |
Number of pages | 10 |
Journal | European Journal of Neurology |
Volume | 17 |
Issue number | 2 |
DOIs | |
Publication status | Published - Feb 2010 |
Keywords
- Ataxias
- Genetic testing
- Hereditary disease
- Molecular genetics
- Spastic paraplegia
ASJC Scopus subject areas
- Clinical Neurology
- Neurology