ABSTRACT
Presymptomatic testing for spinocerebellar ataxia type 2 (SCA2) in Cuba started five years ago. We have now investigated the psychological impact of test results on 150 individuals at 50% risk for SCA2. In a prospective study, psychological instruments were used to evaluate depression, anxiety and family functioning (1) before testing and (2) one year after disclosure of the test result. One year after, anxiety and depression levels decreased both in carriers and non-carriers, but anxiety decreased significantly more in carriers. Pathological levels of anxiety were seen mostly in members of dysfunctional families, but decreased more in them than in other consultands. Presymptomatic testing thus seems to have been especially beneficial for these testees, possibly due to a greater gain from the psychosocial support received. It would be pertinent to evaluate now the impact of other psychosocial variables and perform longer-term longitudinal studies.
Subject(s)
Adaptation, Psychological , Genetic Counseling/psychology , Genetic Testing/psychology , Nerve Tissue Proteins/genetics , Spinocerebellar Ataxias/psychology , Adult , Anxiety/diagnosis , Anxiety/psychology , Ataxins , Cuba , Depression/diagnosis , Depression/psychology , Family Planning Services , Family Relations , Female , Follow-Up Studies , Genetic Carrier Screening , Genetic Predisposition to Disease/genetics , Genetic Predisposition to Disease/psychology , Humans , Interview, Psychological , Male , Middle Aged , Motivation , Prospective Studies , Spinocerebellar Ataxias/geneticsABSTRACT
We assessed maximal saccade velocity (MSV) in 82 spinocerebellar ataxia type 2 (SCA2) patients and 80 controls, correlating it to disease duration, polyglutamine expansion size, age at onset, ataxia score, age, and sex. Little overlap with normal values was found even at earliest stages. Stepwise linear regression analysis showed that 60-degree MSV was strongly influenced by polyglutamine size and less by disease duration, whereas the reverse was found for ataxia score. Saccade velocity thus is a sensitive, quite specific, and objective endophenotype, useful to search polyglutamine modifier genes.