DYT16: the original cases

J Neurol Neurosurg Psychiatry. 2012 Oct;83(10):1012-4. doi: 10.1136/jnnp-2012-302841. Epub 2012 Jul 28.

Abstract

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.

Publication types

  • Case Reports
  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't
  • Video-Audio Media

MeSH terms

  • Adolescent
  • Adult
  • Age of Onset
  • Anti-Dyskinesia Agents / administration & dosage*
  • Antiparkinson Agents / administration & dosage
  • Baclofen / administration & dosage
  • Biperiden / administration & dosage
  • Botulinum Toxins / administration & dosage
  • Carbidopa / administration & dosage
  • Child
  • Child, Preschool
  • Cholinergic Antagonists / administration & dosage
  • Drug Combinations
  • Drug Resistance
  • Dystonia / genetics
  • Dystonia / physiopathology
  • Dystonic Disorders / genetics*
  • Dystonic Disorders / physiopathology*
  • Female
  • Humans
  • Levodopa / administration & dosage
  • Male
  • Middle Aged
  • Muscle Relaxants, Central / administration & dosage
  • Mutation*
  • Parkinsonian Disorders / genetics*
  • Parkinsonian Disorders / physiopathology*
  • Pedigree
  • Phenotype
  • RNA-Binding Proteins / genetics*
  • Speech Disorders / genetics
  • Trihexyphenidyl / administration & dosage
  • Young Adult

Substances

  • Anti-Dyskinesia Agents
  • Antiparkinson Agents
  • Cholinergic Antagonists
  • Drug Combinations
  • Muscle Relaxants, Central
  • PRKRA protein, human
  • RNA-Binding Proteins
  • carbidopa, levodopa drug combination
  • Biperiden
  • Levodopa
  • Trihexyphenidyl
  • Botulinum Toxins
  • Baclofen
  • Carbidopa

Supplementary concepts

  • Dystonia 16