title: DYT16: the original cases.
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.
authors: Movement Disorders Clinic, Hospital das Clínicas, Departamento de Clínica, Médica, Faculdade de Medicina da Universidade Federal de Minas Gerais, Belo Horizonte, Brazil.
authors: Sarah
authors: S
authors: Camargos
authors: Andrew J
authors: AJ
authors: Lees
authors: Andrew
authors: A
authors: Singleton
authors: Francisco
authors: F
authors: Cardoso
mesh_terms: D000293:Adolescent; D000328:Adult; D017668:Age of Onset; D018726:Anti-Dyskinesia Agents / Q000008:administration & dosage*; D000978:Antiparkinson Agents / Q000008:administration & dosage; D001418:Baclofen / Q000008:administration & dosage; D001712:Biperiden / Q000008:administration & dosage; D001905:Botulinum Toxins / Q000008:administration & dosage; D002230:Carbidopa / Q000008:administration & dosage; D002648:Child; D002675:Child, Preschool; D018680:Cholinergic Antagonists / Q000008:administration & dosage; D004338:Drug Combinations; D004351:Drug Resistance; D004421:Dystonia / Q000235:genetics / Q000503:physiopathology; D020821:Dystonic Disorders / Q000235:genetics* / Q000503:physiopathology*; D005260:Female; D006801:Humans; D007980:Levodopa / Q000008:administration & dosage; D008297:Male; D008875:Middle Aged; D009125:Muscle Relaxants, Central / Q000008:administration & dosage; D009154:Mutation; D020734:Parkinsonian Disorders / Q000235:genetics* / Q000503:physiopathology*; D010375:Pedigree; D010641:Phenotype; D016601:RNA-Binding Proteins / Q000235:genetics*; D013064:Speech Disorders / Q000235:genetics; D014282:Trihexyphenidyl / Q000008:administration & dosage; D055815:Young Adult
chemical_list: D018726:Anti-Dyskinesia Agents; D000978:Antiparkinson Agents; D018680:Cholinergic Antagonists; D004338:Drug Combinations; D009125:Muscle Relaxants, Central; C104647:PRKRA protein, human; D016601:RNA-Binding Proteins; C009265:carbidopa, levodopa drug combination; D001712:Biperiden; D007980:Levodopa; D014282:Trihexyphenidyl; D001905:Botulinum Toxins; D001418:Baclofen; D002230:Carbidopa