Servicios Personalizados
Revista
Articulo
Indicadores
- Citado por SciELO
Links relacionados
- Similares en SciELO
Compartir
Revista de Neuro-Psiquiatría
versión impresa ISSN 0034-8597
Resumen
ZELADA-RIOS, Laura et al. Dopa-responsive dystonia (DRD): systematic search in Latin America. Rev Neuropsiquiatr [online]. 2022, vol.85, n.1, pp.38-54. Epub 21-Mar-2022. ISSN 0034-8597. http://dx.doi.org/10.20453/rnp.v85i1.4154.
Dopa-responsive dystonia (DRD) encompasses a heterogenous group of primary dystonias, caused by enzymatic deficiencies across the amines pathway and, by definition, show as their main characteristic a favorable and sustained response to levodopa. There are up to 6 genes associated with DRD, including pathogenic variants of the GCH1 gene as the most frequently involved. The typical presentation of DRD is characterized by start in childhood, lower limb-onset dystonia with daytime fluctuation, mild parkinsonism, and a sustained response to low doses of levodopa. A systematic literature search on DRD reported cases in Latin America is presented.
Palabras clave : Dopa-responsive dystonia; Segawa disease; GTP-cyclohydrolase 1 deficiency; tyrosine hydroxylase deficiency; tetrahydrobiopterin.