Philippe A Salles1, Mérida Terán-Jimenez1, Alvaro Vidal-Santoro1, Pedro Chaná-Cuevas1, Marcelo Kauffman1, Alberto J Espay1. 1. Center for the Study of Movement Disorders (CETRAM) (PAS, MT-J, PC-C), Santiago de Chile University, Santiago, Chile; Movement Disorders Section (PAS, MT-J), Neuroscience Department, Davila Clinic, Santiago, Chile; Movement Disorders Section (MT-J), Neurology Department, Felix Bulnes Hospital, Mayor University, Santiago, Chile; Neurology Department (AV-S), Fuérza Aérea de Chile Hospital, Mayor University, Santiago, Chile; Neurogenetics Unit (MK), Neurology Division, J.M. Ramos Mejía Hospital, University Center of Neurology "J.M. Ramos Mejia". Faculty of Medicine, University of Buenos Aires, Buenos Aires, Argentina; Department of Neurology (AJE); and UC Gardner Neuroscience Institute and Gardner Family Center for Parkinson's Disease and Movement Disorders (AZ, AJE), University of Cincinnati, OH.
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.
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.
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