title: PICOGEN: five years experience with a genetic counselling program for dementia.
abstract: BACKGROUND
  We describe the 5 year experience of a genetic counselling program for familial dementias (the PICOGEN program).
  
  
  METHODS
  The neurologist selected the candidates for genetic testing in the screening visit based on family history and phenotype (Alzheimer disease-AD, frontotemporal lobar degeneration-FTLD, or prion disease). Asymptomatic subjects who decided to know their genetic status were evaluated within a structured protocol by the psychiatrist and psychologist prior to entering the program and followed up afterwards.
  
  
  RESULTS
  A total of 87 patients from 72 families were candidates for the genetic study, 20 of the 72 families had a family history of autosomal dominant early-onset dementia (ADEOD). A pathogenic mutation was found in 22 patients (8 PSEN1, 1 PSEN2, 1 APP, 4 MAPT, 8 PRNP), 5 of which had not been previously described. All positive cases, except for 1 PSEN1 (12.5%) and 4 PRNP (50%) showed ADEOD. In 3 ADEOD cases (15%) no pathogenic mutation was found. After individual genetic counselling, 24/54 asymptomatic subjects at risk decided to have the pre-symptomatic study, of whom 10 (42%) were carriers of the pathogenic mutation. In the follow up, no major psychiatric complication was observed.
  
  
  CONCLUSIONS
  In our series, family history of ADEOD was a sensitive criterion for the detection of pathogenic mutations in AD and FTLD but not in prion diseases. No genetic anomalies were detected in 15% of the ADEOD cases using conventional diagnostic procedures, and 43% of pre-symptomatic subjects at risk who received individual genetic counselling decided to have the study. The pre-symptomatic diagnosis proved to be safe under these conditions.
authors.affiliation: Unidad de Alzheimer y otros trastornos cognitivos, Hospital Clínic de Barcelona, Barcelona, Spain.
authors.forename: J
authors.initials: J
authors.lastname: Fortea
authors.forename: A
authors.initials: A
authors.lastname: Lladó
authors.forename: J
authors.initials: J
authors.lastname: Clarimón
authors.forename: A
authors.initials: A
authors.lastname: Lleó
authors.forename: R
authors.initials: R
authors.lastname: Oliva
authors.forename: J
authors.initials: J
authors.lastname: Peri
authors.forename: L
authors.initials: L
authors.lastname: Pintor
authors.forename: J
authors.initials: J
authors.lastname: Yagüe
authors.forename: R
authors.initials: R
authors.lastname: Blesa
authors.forename: J L
authors.initials: JL
authors.lastname: Molinuevo
authors.forename: R
authors.initials: R
authors.lastname: Sánchez-Valle
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D003704:Dementia / Q000235:genetics*; D005817:Genetic Counseling; D006801:Humans; D008875:Middle Aged; D015397:Program Evaluation; D013997:Time Factors