[Genetics of movement disorders]. / Genetik von Bewegungsstörungen.
Nervenarzt
; 84(2): 143-50, 2013 Feb.
Article
en De
| MEDLINE
| ID: mdl-23354823
ABSTRACT
A number of genetic causes of movement disorders including Parkinson disease, dystonia, restless legs syndrome or essential tremor have been elucidated in recent years. This process was accelerated by novel technologies including genome-wide association studies (GWAS) and next generation sequencing (NGS). Although monogenic forms are overall rare, they provide a unique opportunity to investigate mutation carriers who are still in the presymptomatic phase. As these subjects present individuals at risk to develop the disease, they have been included in longitudinal studies to unravel disease mechanisms and elucidate novel therapeutic targets. In addition, cell culture and animal studies have been performed to functionally characterize proteins mutated in different movement disorders to provide further insight into disturbed cellular pathways. In this article, we summarize known monogenic forms and the associated phenotype as well as genetic risk factors and review the function of relevant genes and proteins.
Texto completo:
1
Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
Trastornos del Movimiento
Tipo de estudio:
Diagnostic_studies
/
Observational_studies
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Prognostic_studies
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Risk_factors_studies
Límite:
Animals
/
Humans
Idioma:
De
Revista:
Nervenarzt
Año:
2013
Tipo del documento:
Article