title: Importance of psychiatric examination in predictive genetic testing for Huntington disease.
abstract: OBJECTIVE
  Huntington disease (HD) is an au-tosomal dominant hereditary neurodegenerative disease with multiplication of CAG triplet in the short arm of chromoso-me 4, manifested by motor symptoms, cognitive dysfunction progressing to dementia, and various types of neuropsychiat-ric disorders. The diagnosis of HD is confirmed by a gene-tic test, which may also be carried out presymptomatically.
  
  
  METHODS
  We studied differences in psychiatric examination and psychometric measures among the 52 people at risk of HD, who were recommended to postpone or to continue in the predictive protocol. In addition to the psychiatric examination, we administered the Eysenck Personality Questionnaire (EPQ-A), the Symptom Checklist 90 (SCL-90), and quality of life questionnaire (MANSA).
  
  
  RESULTS
  People at risk of HD with the recommended test postponement showed lower rate of neuroticism and EPQ-A lie score, higher values on the phobia and the so-called 'positive symptom distress index' in SCL-90 and lower quality of life than people at risk of HD with the recommendation to continue.
  
  
  CONCLUSIONS
  Our results indicate that the formalized testing does not bring significant information whereas the clinical psychiatric examination remains the main decisive factor in the recommendation to perform a predictive genetic test. The motivation of applicants is considered as the most important factor in the decision-making process.
authors.affiliation: Jan Roth, MD, PhD, Department of Neurology, Katerinska 30, 12000 Prague 2, Czech Republic, e-mail: jan1roth2@gmail.com.
authors.forename: Tereza
authors.initials: T
authors.lastname: Uhrová
authors.forename: Jana
authors.initials: J
authors.lastname: Zidovská
authors.forename: Jana
authors.initials: J
authors.lastname: Koblihová
authors.forename: Jiří
authors.initials: J
authors.lastname: Klempíř
authors.forename: Veronika
authors.initials: V
authors.lastname: Majerová
authors.forename: Jan
authors.initials: J
authors.lastname: Roth
mesh_terms: D000328:Adult; D015984:Causality; D003072:Cognition Disorders / Q000175:diagnosis* / Q000453:epidemiology / Q000235:genetics*; D015897:Comorbidity; D005260:Female; D020022:Genetic Predisposition to Disease; D006304:Health Status; D006801:Humans; D006816:Huntington Disease / Q000175:diagnosis* / Q000453:epidemiology / Q000235:genetics* / Q000523:psychology; D008297:Male; D008875:Middle Aged; D009483:Neuropsychological Tests; D011044:Poland; D011237:Predictive Value of Tests; D011569:Psychiatric Status Rating Scales; D011596:Psychomotor Disorders / Q000175:diagnosis* / Q000453:epidemiology / Q000235:genetics*; D012307:Risk Factors; D055815:Young Adult