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Neurologia. 2011 Apr;26(3):143-9. doi: 10.1016/j.nrl.2010.09.011. Epub 2010 Nov 11.

PICOGEN: five years experience with a genetic counselling program for dementia.

[Article in English, Spanish]

Author information

1
Unidad de Alzheimer y otros trastornos cognitivos, Hospital Clínic de Barcelona, Barcelona, Spain.

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.

PMID:
21163230
DOI:
10.1016/j.nrl.2010.09.011
[Indexed for MEDLINE]
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