title: The clinical phenotype of early-onset isolated dystonia caused by recessive COL6A3 mutations (DYT27).
abstract: We recently identified mutations in the a3 (VI) collagen gene COL6A3 that cause autosomal-recessive isolated dystonia (DYT27). This article gives a detailed description of the clinical phenotype associated with this new type of dystonia.
  
  
  
  A total of 5 recessive COL6A3 mutation carriers underwent clinical examinations, and case histories were recorded on videotape.
  
  
  
  Biallelic COL6A3 mutations cause isolated dystonia with interindividual heterogeneity of distribution and severity. Dystonia was generalized in 3 patients, pronounced in the cranio-cervical region, upper limbs, and trunk; segmental in 1 patient, with the neck and upper limbs affected; and focal with cervical involvement in another patient. Symptoms began in childhood, adolescence, or early adulthood, initially affecting the neck as cervical dystonia or the hand as writer's cramp.
  
  
  
  COL6A3-associated dystonia represents a newly identified autosomal-recessive entity characterized clinically by an early symptom onset with variable distribution. © 2015 Movement Disorder Society.
authors.affiliation: Department of Neurology, Klinikum rechts der Isar Technical University Munich, Munich, Germany.
authors.forename: Angela
authors.initials: A
authors.lastname: Jochim
authors.affiliation: Department of Neurology, Klinikum rechts der Isar Technical University Munich, Munich, Germany.|Institute for Neurogenomics, Helmholtz Zentrum München, Munich, Germany.
authors.forename: Michael
authors.initials: M
authors.lastname: Zech
authors.affiliation: Department of Neurology, Klinikum rechts der Isar Technical University Munich, Munich, Germany.
authors.forename: Gina
authors.initials: G
authors.lastname: Gora-Stahlberg
authors.affiliation: Institute for Neurogenomics, Helmholtz Zentrum München, Munich, Germany.|Munich Cluster for Systems Neurology, SyNergy, Munich, Germany.
authors.forename: Juliane
authors.initials: J
authors.lastname: Winkelmann
authors.affiliation: Department of Neurology, Klinikum rechts der Isar Technical University Munich, Munich, Germany.
authors.forename: Bernhard
authors.initials: B
authors.lastname: Haslinger
mesh_terms: D017668:Age of Onset; D000368:Aged; D024142:Collagen Type VI / Q000235:genetics*; D004421:Dystonia / Q000235:genetics* / Q000503:physiopathology*; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010375:Pedigree; D010641:Phenotype
chemical_list: C000601102:COL6A3 protein, human; D024142:Collagen Type VI
keywords: COL6A3 mutations; DYT27; Isolated dystonia; autosomal recessive; phenotype