Dopa-responsive dystonia (DRD): systematic search in Latin America

Authors

  • Laura Zelada-Ríos Center for Basic Research in Neurogenetics, National Institute of Neurological Sciences. Lima Peru.
  • Elison Sarapura-Castro Center for Basic Research in Neurogenetics, National Institute of Neurological Sciences. Lima Peru.
  • Karol Solórzano-Palacios Center for Basic Research in Neurogenetics, National Institute of Neurological Sciences. Lima Peru.
  • Jorge La Serna-Infantes Center for Basic Research in Neurogenetics, National Institute of Neurological Sciences. Lima Peru.
  • Wilfor Aguirre-Quispe Center for Basic Research in Neurogenetics, National Institute of Neurological Sciences. Lima Peru.
  • Carlos Cosentino-Esquerre Basic Center for Research in Neurodegenerative Diseases, National Institute of Neurological Sciences. Lima Peru. Faculty of Medicine, National University of San Marcos. Lima Peru.
  • Luis Urbina-Ramírez Center for Basic Research in Neurogenetics, National Institute of Neurological Sciences. Lima Peru.
  • Luis Torres-Ramírez Basic Center for Research in Neurodegenerative Diseases, National Institute of Neurological Sciences. Lima Peru.
  • Pilar Mazzetti Center for Basic Research in Neurogenetics, National Institute of Neurological Sciences. Lima Peru. Faculty of Medicine, National University of San Marcos. Lima Peru.
  • Mario Cornejo-Olivas Center for Basic Research in Neurogenetics, National Institute of Neurological Sciences. Lima Peru. Center for Global Health, Cayetano Heredia Peruvian University. Lima Peru.

DOI:

https://doi.org/10.20453/rnp.v85i1.4154

Keywords:

Dopa-responsive dystonia, Segawa disease, GTP-cyclohydrolase 1 deficiency, tyrosine hydroxylase deficiency, tetrahydrobiopterin

Abstract

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.

Downloads

Published

2022-03-21

How to Cite

1.
Zelada-Ríos L, Sarapura-Castro E, Solórzano-Palacios K, La Serna-Infantes J, Aguirre-Quispe W, Cosentino-Esquerre C, et al. Dopa-responsive dystonia (DRD): systematic search in Latin America. Rev Neuropsiquiatr [Internet]. 2022 Mar. 21 [cited 2024 May 18];85(1):38-54. Available from: https://revistas.upch.edu.pe/index.php/RNP/article/view/4154

Issue

Vol. 85 No. 1 (2022): January-March

Section

REVIEW ARTICLE

Most read articles by the same author(s)

<< < 1 2