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CASE REPORTS
JOURNAL ARTICLE
RESEARCH SUPPORT, N.I.H., EXTRAMURAL
RESEARCH SUPPORT, NON-U.S. GOV'T
VIDEO-AUDIO MEDIA
DYT16: the original cases.
Journal of Neurology, Neurosurgery, and Psychiatry 2012 October
OBJECTIVE: 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.
METHODS: We examined and videotaped all homozygous carriers of the DYT16 gene.
RESULTS: 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.
CONCLUSIONS: DYT16 is a rare autosomal recessive dystonia characterised by generalised dystonia or dystonia-parkinsonism. Patients are refractory to pharmacological therapy.
METHODS: We examined and videotaped all homozygous carriers of the DYT16 gene.
RESULTS: 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.
CONCLUSIONS: DYT16 is a rare autosomal recessive dystonia characterised by generalised dystonia or dystonia-parkinsonism. Patients are refractory to pharmacological therapy.
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