Cuban Adolescents Requesting Presymptomatic Testing for Spinocerebellar Ataxia Type 2

Since 2001 a program for the presymptomatic testing of families affected with SCA2 has been under development in Cuba. According to the initial protocol, access would be given to nonsymptomatic individuals at 50% risk, over 18 years; nevertheless, eleven minors requested their inclusion in the program. A retrospective and descriptive study based on the analysis of the medical records belonging to these individuals was designed. Being aware of how challenging clinical settings of predictive genetic testing for minors are, this paper reviews their profile, the outcome of the carried out studies, as well as the reproductive option chosen by the gene positive consultands. The mean age at the time of testing was 16.2 years. Nine adolescents completed the protocol (three had positive test results) and two withdrew. They had a distinctive profile; all were females, pregnant, motivated by the risk assessment for their descendants, and interested in PND with termination of the gestation were the fetus a carrier. Nevertheless, once the result of the test is known, the gene positive consultands chose discordant reproductive options. Further research is necessary to assess the long-term psychological impact in both gene positive and gene negative participants, as well as in their parents and at-risk relatives. 1. Introduction In February 2001, health professionals in Cuba designed a protocol for genetic counseling, presymptomatic testing (PST), and prenatal diagnosis (PND) of families affected with spinocerebellar ataxia type 2 (SCA2) [1, 2]. With an autosomal dominant mode of inheritance, SCA2 is considered a late onset neurodegenerative disease mainly characterized by cerebellar dysfunction (ataxic gait, cerebellar dysarthria, dysmethria, dysdiadochokinesia) associated with slow saccades, severe tremor of postural or action type, peripheral neuropathy, cognitive disorders, and other multisystemic features [3, 4]. The disease in question raises in this country the highest worldwide prevalence (6.57 cases per 105 inhabitants) with 753 affected individuals belonging to 200 unrelated families and 7000 at-risk descendants [5], who contribute to the high uptake rates of the SCA2 PST (24.91%) [6]. According to the SCA2 PST initial protocol, access would be given to nonsymptomatic individuals at 50% risk, over 18 years, who did not have severe psychiatric disturbances. The SCA2 mutation must have been identified in at least a relative [1, 2]. Nevertheless, some at-risk individuals under 18 years requested their inclusion in the PST program along these years (2001–2012).