title: Genetic evaluation for TOR1-A (DYT1) in Brazilian patients with dystonia.
abstract: Several genes have been mapped in families or in sporadic cases of dystonia. TOR1-A (DYT1) gene was linked to isolated dystonia.
  
  
  OBJECTIVE
  To associate clinical information of patients with dystonia with the TOR1-A gene mutations.
  
  
  METHODS
  Eighty-eight patients with dystonia in cervical area (focal, segmental, multifocal and generalized) were recruited at Movement Disorders Clinic of Hospital de Clínicas of the Federal University of Paraná between June of 2008 and June of 2009. They were submitted to the clinical evaluation. DNA was extract from blood and submitted at analysis to TOR1-A mutations by PCR according standard protocols.
  
  
  RESULTS
  Two patients had c.907GAGdel mutation on TOR1-A gene. These patients, with familial history of dystonia, started his symptoms by legs and had secondary generalization.
  
  
  CONCLUSIONS
  We can suggest that analysis for TOR1-A mutations should be performed only in patients with early onset, generalized and familial dystonia.
authors.affiliation: Hospital de Clínicas, Universidade Federal do Paraná, Curitiba, PR, Brazil.
authors.forename: Carlos Henrique F
authors.initials: CH
authors.lastname: Camargo
authors.affiliation: Hospital das Clínicas, Universidade Federal de Minas Gerais, Belo Horizonte, MG, Brazil.
authors.forename: Sarah Teixeira
authors.initials: ST
authors.lastname: Camargos
authors.affiliation: Laboratório Genetika, Curitiba, PR, Brazil.
authors.forename: Salmo
authors.initials: S
authors.lastname: Raskin
authors.affiliation: Hospital das Clínicas, Universidade Federal de Minas Gerais, Belo Horizonte, MG, Brazil.
authors.forename: Francisco Eduardo C
authors.initials: FE
authors.lastname: Cardoso
authors.affiliation: Hospital de Clínicas, Universidade Federal do Paraná, Curitiba, PR, Brazil.
authors.forename: Hélio Afonso G
authors.initials: HA
authors.lastname: Teive
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D001938:Brazil; D002648:Child; D002675:Child, Preschool; D004421:Dystonia / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D007223:Infant; D008297:Male; D008875:Middle Aged; D018832:Molecular Chaperones / Q000235:genetics*; D009154:Mutation / Q000235:genetics*; D010375:Pedigree; D055815:Young Adult
chemical_list: D018832:Molecular Chaperones; C108175:TOR1A protein, human