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dc.contributor.author
Salles, Philippe A.
dc.contributor.author
Terán Jimenez, Mérida
dc.contributor.author
Vidal Santoro, Alvaro
dc.contributor.author
Chaná Cuevas, Pedro
dc.contributor.author
Kauffman, Marcelo Andres
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dc.contributor.author
Espay, Alberto J.
dc.date.available
2023-01-12T14:55:45Z
dc.date.issued
2021-07
dc.identifier.citation
Salles, Philippe A.; Terán Jimenez, Mérida; Vidal Santoro, Alvaro; Chaná Cuevas, Pedro; Kauffman, Marcelo Andres; et al.; Recognizing Atypical Dopa-Responsive Dystonia and Its Mimics; American Academy of Neurology; Neurology: Clinical Practice; 11; 6; 7-2021; 876-884
dc.identifier.issn
2163-0402
dc.identifier.uri
http://hdl.handle.net/11336/184555
dc.description.abstract
Purpose of review: Dopa-responsive dystonia (DRD) encompasses a group of phenotypically and genetically heterogeneous neurochemical disorders. Classic GTP cyclohydrolase 1 (GCH-1)-associated DRD consists of early-onset lower limb asymmetrical dystonia, with sleep benefit, diurnal variation, and excellent and sustained response to low l-dopa doses.Recent findings: Unlike the classic phenotype, GCH-1-associated DRD may include features inconsistent with the original phenotype. We describe a GCH-1-associated late-onset DRD case with a family history of parkinsonism and cervical dystonia whose response to levodopa was poor and complicated with dyskinesia, blepharospasm, and severe nonmotor symptoms. We use this case as a springboard to review the spectrum of atypical DRD, DRD-plus, and DRD mimics.Summary: GCH-1-related dystonia may exhibit wide intrafamilial phenotypic variability, no diurnal fluctuation, poor response to l-dopa, and such complications as dyskinesia, epilepsy, sleep disorders, autonomic dysfunction, oculogyric crisis, myoclonus, or tics. More recently, rare GCH-1 variants have been found to be associated with Parkinson disease. Clinicians should be aware of atypical DRD, DRD-plus, and DRD mimics.
dc.format
application/pdf
dc.language.iso
eng
dc.publisher
American Academy of Neurology
dc.rights
info:eu-repo/semantics/restrictedAccess
dc.rights.uri
https://creativecommons.org/licenses/by-nc-sa/2.5/ar/
dc.subject
NEUROGENETICS
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MOVEMENT DISORDERS
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Neurología Clínica
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dc.subject.classification
Medicina Clínica
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dc.subject.classification
CIENCIAS MÉDICAS Y DE LA SALUD
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dc.title
Recognizing Atypical Dopa-Responsive Dystonia and Its Mimics
dc.type
info:eu-repo/semantics/article
dc.type
info:ar-repo/semantics/artículo
dc.type
info:eu-repo/semantics/publishedVersion
dc.date.updated
2022-09-21T14:10:26Z
dc.identifier.eissn
2163-0933
dc.journal.volume
11
dc.journal.number
6
dc.journal.pagination
876-884
dc.journal.pais
Estados Unidos
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dc.description.fil
Fil: Salles, Philippe A.. University of Cincinnati; Estados Unidos
dc.description.fil
Fil: Terán Jimenez, Mérida. University of Cincinnati; Estados Unidos
dc.description.fil
Fil: Vidal Santoro, Alvaro. University of Cincinnati; Estados Unidos
dc.description.fil
Fil: Chaná Cuevas, Pedro. University of Cincinnati; Estados Unidos
dc.description.fil
Fil: Kauffman, Marcelo Andres. Universidad Austral. Facultad de Ciencias Biomédicas. Instituto de Investigaciones en Medicina Traslacional. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Parque Centenario. Instituto de Investigaciones en Medicina Traslacional; Argentina
dc.description.fil
Fil: Espay, Alberto J.. University of Cincinnati; Estados Unidos
dc.journal.title
Neurology: Clinical Practice
dc.relation.alternativeid
info:eu-repo/semantics/altIdentifier/url/https://cp.neurology.org/lookup/doi/10.1212/CPJ.0000000000001125
dc.relation.alternativeid
info:eu-repo/semantics/altIdentifier/doi/http://dx.doi.org/10.1212/CPJ.0000000000001125
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