Distonías primarias respondedoras a levodopa (DRD):Búsqueda sistemática en Latinoamérica.

Laura Zelada-Ríos; Elison Sarapura-Castro; Karol Solórzano-Palacios; Jorge La Serna-Infantes; Wilfor Aguirre-Quispe; Carlos Cosentino-Esquerre; Luis Urbina-Ramírez; Luis Torres-Ramírez; Pilar Mazzetti; Mario Cornejo-Olivas

doi:10.20453/rnp.v85i1.4154

Distonías primarias respondedoras a levodopa (DRD):Búsqueda sistemática en Latinoamérica.

Laura Zelada-Ríos, Elison Sarapura-Castro, Karol Solórzano-Palacios, Jorge La Serna-Infantes, Wilfor Aguirre-Quispe, Carlos Cosentino-Esquerre, Luis Urbina-Ramírez, Luis Torres-Ramírez, Pilar Mazzetti, Mario Cornejo-Olivas

Producción científica: Contribución a una revista › Artículo de revisión › revisión exhaustiva

Resumen

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.

Título traducido de la contribución	Dopa-responsive dystonia (DRD): Systematic search in Latin America
Idioma original	Español
Páginas (desde-hasta)	38-54
Número de páginas	17
Publicación	Revista de Neuro-Psiquiatria
Volumen	85
N.º	1
DOI	https://doi.org/10.20453/rnp.v85i1.4154
Estado	Publicada - mar. 2022
Publicado de forma externa	Sí

Palabras clave

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

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10.20453/rnp.v85i1.4154

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Zelada-Ríos, L., Sarapura-Castro, E., Solórzano-Palacios, K., Serna-Infantes, J. L., Aguirre-Quispe, W., Cosentino-Esquerre, C., Urbina-Ramírez, L., Torres-Ramírez, L., Mazzetti, P., & Cornejo-Olivas, M. (2022). Distonías primarias respondedoras a levodopa (DRD):Búsqueda sistemática en Latinoamérica. Revista de Neuro-Psiquiatria, 85(1), 38-54. https://doi.org/10.20453/rnp.v85i1.4154

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title = "Diston{\'i}as primarias respondedoras a levodopa (DRD):B{\'u}squeda sistem{\'a}tica en Latinoam{\'e}rica.",

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.",

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

author = "Laura Zelada-R{\'i}os and Elison Sarapura-Castro and Karol Sol{\'o}rzano-Palacios and Serna-Infantes, {Jorge La} and Wilfor Aguirre-Quispe and Carlos Cosentino-Esquerre and Luis Urbina-Ram{\'i}rez and Luis Torres-Ram{\'i}rez and Pilar Mazzetti and Mario Cornejo-Olivas",

note = "Publisher Copyright: {\textcopyright} 2022 The authors.",

year = "2022",

month = mar,

doi = "10.20453/rnp.v85i1.4154",

language = "Espa{\~n}ol",

volume = "85",

pages = "38--54",

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Zelada-Ríos, L, Sarapura-Castro, E, Solórzano-Palacios, K, Serna-Infantes, JL, Aguirre-Quispe, W, Cosentino-Esquerre, C, Urbina-Ramírez, L, Torres-Ramírez, L, Mazzetti, P & Cornejo-Olivas, M 2022, 'Distonías primarias respondedoras a levodopa (DRD):Búsqueda sistemática en Latinoamérica.', Revista de Neuro-Psiquiatria, vol. 85, n.º 1, pp. 38-54. https://doi.org/10.20453/rnp.v85i1.4154

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T1 - Distonías primarias respondedoras a levodopa (DRD):Búsqueda sistemática en Latinoamérica.

AU - Zelada-Ríos, Laura

AU - Sarapura-Castro, Elison

AU - Solórzano-Palacios, Karol

AU - Serna-Infantes, Jorge La

AU - Aguirre-Quispe, Wilfor

AU - Cosentino-Esquerre, Carlos

AU - Urbina-Ramírez, Luis

AU - Torres-Ramírez, Luis

AU - Mazzetti, Pilar

AU - Cornejo-Olivas, Mario

PY - 2022/3

Y1 - 2022/3

N2 - 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.

AB - 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.

KW - Dopa-responsive dystonia

KW - GTP-cyclohydrolase 1 deficiency

KW - Segawa disease

KW - tetrahydrobiopterin

KW - tyrosine hydroxylase deficiency

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U2 - 10.20453/rnp.v85i1.4154

DO - 10.20453/rnp.v85i1.4154

M3 - Artículo de revisión

AN - SCOPUS:85176905535

SN - 0034-8597

VL - 85

SP - 38

EP - 54

JO - Revista de Neuro-Psiquiatria

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Distonías primarias respondedoras a levodopa (DRD):Búsqueda sistemática en Latinoamérica.

Resumen

Palabras clave

ODS de las Naciones Unidas

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Otros archivos y enlaces

Huella

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