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- Sarah Camargos, Andrew J Lees, Andrew Singleton, and Francisco Cardoso.
- Movement Disorders Clinic, Hospital das Clínicas, Departamento de Clínica, Médica, Faculdade de Medicina da Universidade Federal de Minas Gerais, Belo Horizonte, Brazil.
- J. Neurol. Neurosurg. Psychiatr.. 2012 Oct 1;83(10):1012-4.
ObjectiveDYT16 is an autosomal recessive dystonia-parkinsonism due to putative mutations at PRKRA gene. The aim of this study was to describe clinical features providing video documentation of patients with DYT16 dystonia.MethodsWe examined and videotaped all homozygous carriers of the DYT16 gene.ResultsWe identified two phenotypes, generalised dystonia and dystonia-parkinsonism non-responsive to levo-dopa, with three patients belonging to each of the groups. There was inter-individual and intra-family phenotypic heterogeneity.ConclusionsDYT16 is a rare autosomal recessive dystonia characterised by generalised dystonia or dystonia-parkinsonism. Patients are refractory to pharmacological therapy.
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