PICOGEN: five years experience with a genetic counselling program for dementia.
Neurologia
; 26(3): 143-9, 2011 Apr.
Article
em En, Es
| MEDLINE
| ID: mdl-21163230
ABSTRACT
INTRODUCTION:
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.
Texto completo:
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Base de dados:
MEDLINE
Assunto principal:
Demência
/
Aconselhamento Genético
Idioma:
En
/
Es
Ano de publicação:
2011
Tipo de documento:
Article