{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,10]],"date-time":"2026-03-10T13:42:12Z","timestamp":1773150132467,"version":"3.50.1"},"reference-count":35,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2009,9,3]],"date-time":"2009-09-03T00:00:00Z","timestamp":1251936000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Journal of Genetic Counseling"],"published-print":{"date-parts":[[2009,10]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>To identify possible factors affecting the psychological impact of pre\u2010symptomatic testing for spinocerebellar ataxia type 2 (SCA2) and familial amyloid polyneuropathy (FAP ATTRV30M), we studied (1) the effect of previous experience with the disease in the family, (2) kinship with the closest affected relative and (3) gender of affected parent, when adapting to test results; as well as (4) differences in the course of psychological wellbeing in 63 subjects (28 at\u2010risk for FAP ATTRV30M, and 35 at risk for SCA2), who pursued predictive testing for these diseases, in Cuba and in Portugal. Our research shows that individuals with little or no experience with the disease in their family exhibited more anxiety; at\u2010risk subjects for SCA2 or FAP ATTRV30M who had a first degree relative with the disease showed lower levels of anxiety and depression during pre\u2010symptomatic testing. Also those with an affected mother had lower levels of depression, either immediately, or one year after receipt of test results. Adaptation to pre\u2010symptomatic testing results differed for subjects at\u2010risk for the two different conditions. Unlike the FAP ATTRV30M families, carriers for SCA2 reported pathological levels of depression immediately after\u2010testing (3 weeks), although those levels had returned to normal levels at 6 months. Subjects at\u2010risk for FAP ATTRV30M tended to have less anxiety than those tested for SCA2, at the one\u2010year follow\u2010up. Overall, depression levels improved over time, while anxiety remained more constant. A longer awareness of the disease in the family, closer kinship, and a transmitting mother all lessened the impact of pre\u2010symptomatic testing, as expressed by the post\u2010test levels of anxiety and depression.<\/jats:p>","DOI":"10.1007\/s10897-009-9240-1","type":"journal-article","created":{"date-parts":[[2009,9,2]],"date-time":"2009-09-02T14:17:04Z","timestamp":1251901024000},"page":"483-493","source":"Crossref","is-referenced-by-count":22,"title":["Role of the Disease in the Psychological Impact of Pre\u2010Symptomatic Testing for SCA2 and FAP ATTRV30M: Experience with the Disease, Kinship and Gender of the Transmitting Parent"],"prefix":"10.1002","volume":"18","author":[{"given":"Milena","family":"Paneque","sequence":"first","affiliation":[{"name":"Cl\u00ednica para Investigaci\u00f3n y Rehabilitaci\u00f3n de las Ataxias Hereditarias (CIRAH) Holgu\u00edn Cuba"},{"name":"Centro de Gen\u00e9tica Preditiva e Preventiva (CGPP) and UnIGENe, IBMC\u2013Institute for Molecular and Cell Biology University of Porto Rua do Campo Alegre, 823 Porto 4150\u2010180 Portugal"},{"name":"ICBAS University of Porto Porto Portugal"}]},{"given":"Carolina","family":"Lemos","sequence":"additional","affiliation":[{"name":"Centro de Gen\u00e9tica Preditiva e Preventiva (CGPP) and UnIGENe, IBMC\u2013Institute for Molecular and Cell Biology University of Porto Rua do Campo Alegre, 823 Porto 4150\u2010180 Portugal"},{"name":"ICBAS University of Porto Porto Portugal"}]},{"given":"Alda","family":"Sousa","sequence":"additional","affiliation":[{"name":"Centro de Gen\u00e9tica Preditiva e Preventiva (CGPP) and UnIGENe, IBMC\u2013Institute for Molecular and Cell Biology University of Porto Rua do Campo Alegre, 823 Porto 4150\u2010180 Portugal"},{"name":"ICBAS University of Porto Porto Portugal"}]},{"given":"Luis","family":"Vel\u00e1zquez","sequence":"additional","affiliation":[{"name":"Cl\u00ednica para Investigaci\u00f3n y Rehabilitaci\u00f3n de las Ataxias Hereditarias (CIRAH) Holgu\u00edn Cuba"}]},{"given":"Manuela","family":"Fleming","sequence":"additional","affiliation":[{"name":"Centro de Gen\u00e9tica Preditiva e Preventiva (CGPP) and UnIGENe, IBMC\u2013Institute for Molecular and Cell Biology University of Porto Rua do Campo Alegre, 823 Porto 4150\u2010180 Portugal"},{"name":"ICBAS University of Porto Porto Portugal"}]},{"given":"Jorge","family":"Sequeiros","sequence":"additional","affiliation":[{"name":"Centro de Gen\u00e9tica Preditiva e Preventiva (CGPP) and UnIGENe, IBMC\u2013Institute for Molecular and Cell Biology University of Porto Rua do Campo Alegre, 823 Porto 4150\u2010180 Portugal"},{"name":"ICBAS University of Porto Porto 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