EFNS guidelines on the molecular diagnosis of ataxias and spastic paraplegias.
Eur J Neurol
; 17(2): 179-88, 2010 Feb.
Article
em En
| MEDLINE
| ID: mdl-20050888
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 ANDCONCLUSION:
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.
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Ataxia
/
Paraplegia Espástica Hereditária
Tipo de estudo:
Diagnostic_studies
/
Guideline
Limite:
Humans
Idioma:
En
Revista:
Eur J Neurol
Assunto da revista:
NEUROLOGIA
Ano de publicação:
2010
Tipo de documento:
Article
País de afiliação:
Alemanha