Depression levels in Pre-symptomatic Testing for Neurodegenerative Diseases: a psychological point of view

The psychological impact of pre-symptomatic testing for some late-onset diseases is still an important topic of study, particularly in the Portuguese population, since there are not many studies published in this field. In a retrospective study, we have investigated the psychological impact, concerning depression indicators, of pre-symptomatic testing (PST) for 3 autosomal dominant late-onset diseases: Huntington disease (HD), Machado-Joseph disease (MJD) and familial amyloidotic polyneuropathy (FAP) ATTRV30M. The study included 686 subjects: 586 (85.4%) were at-risk for FAP ATTRV30M, 92 (13.4%) for HD and 8 (1.2%) for MJD. Among all, 352 received a mutation-carrier result, and 305 a non-carrier result. The majority were women (58.6%). Mean age was 36.3 years (SD, 11,8). Most (50.9%) were single, while 44.5% were married or living with a partner.