Year: 2009
Type: article
Study design: Observational Study
Abstract: Pathogenic mutations leading to familial Alzheimer's disease (FAD), familial frontotemporal dementia (fFTD) and genetic prion diseases (gTSE) are responsible for 1-15% cases of presenile dementia. To give support to these patients and their families a multidisciplinary program following Huntington's disease counseling guidelines and approved by the local ethics commitee was developed in Hospital Clinic, Barcelona: The PICOGEN program. We describe the 5 year experience of this program. Subjects attended a first screening visit with a neurologist who selected candidates for genetic testing. Symptomatic candidates underwent genetic testing after written informed consent. Asymptomatic candidates underwent a structured clinical interview by a psychologist and a psychiatrist and were recounseled after. If testing was recommended, blood was drawn after written informed consent. Results were given directly to the individual in the presence of a companion. - 20% of subjects (59/302) at the screening visit were considered candidates for genetic testing in the first phase of the program. - FAD: We found 4 families with pathogenic mutations in PSEN1 (M139T, P264L, L286P, E120G), one in PSEN2 (T430M) and one in APP (I716F). 23/31 subjects after counseling underwent genetic analysis and 17 of them were carriers (7 asymptomatic). - fFTD: 2 families with P301L mutation in MAPT, 3/5 underwent genetic analysis (1/3 asymptomatic carrier). - gTSE: 2 families with E200K mutation, 4 with D178N and 2 with octapeptide repeat insertions (4-OPRI and 9-OPRI) 16/24 underwent genetic testing (3/11 asymtomatic carriers). - 5 corionic biopsies were perfomed for prenatal diagnosis (4/5 showed the pathogenic mutation). - Psychological impact: All noncarriers felt relieved. Overall carriers valued the information received and the support obtained during the post-test follow-up program. No negative psychological reactions were observed at medium-term follow-up. - We identified 14 families with pathogenic mutations for dementia. 70% of subjects from these families that came for genetic counseling underwent genetic testing. 74% of them were carriers (32% asymptomatic when tested). - We found 4 non previously described mutations (2 PSEN1, 1 PSEN2 and 1 APP). - Predictive testing may be performed safely within strict counseling protocols and is also regarded as beneficial by at-risk individuals.
Source: Alzheimer s & Dementia
Language: English
Subfield: Psychiatry and Mental health
Field: Medicine
Domain: Health Sciences
Open Access status: bronze
OpenAlex ID: W1994488917