Journal of Neurology, Neurosurgery & Psychiatry 2012-10-01

DYT16: the original cases.

Sarah Camargos, Andrew J Lees, Andrew Singleton, Francisco Cardoso

文献索引：J. Neurol. Neurosurg. Psychiatr. 83(10) , 1012-4, (2012)

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摘要

DYT16 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.We examined and videotaped all homozygous carriers of the DYT16 gene.We 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.DYT16 is a rare autosomal recessive dystonia characterised by generalised dystonia or dystonia-parkinsonism. Patients are refractory to pharmacological therapy.