Journal of neurology, neurosurgery, and psychiatry
The most recent articles from:
J. Neurol. Neurosurg. Psychiatr.
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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. ⋯ DYT16 is a rare autosomal recessive dystonia characterised by generalised dystonia or dystonia-parkinsonism. Patients are refractory to pharmacological therapy.