{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,10]],"date-time":"2026-03-10T13:42:10Z","timestamp":1773150130052,"version":"3.50.1"},"reference-count":80,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2006,3,30]],"date-time":"2006-03-30T00:00:00Z","timestamp":1143676800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2006,4]]},"abstract":"<jats:p>Machado\u2013Joseph disease [MJD, also spinocerebellar ataxia type 3 (SCA3)] and familial amyloid polyneuropathy type I (FAP\u2010I or ATTR V30M) are neurodegenerative disorders, inherited in an autosomal dominant fashion, which have a high prevalence in Portugal, probably due to a founder effect. MJD and FAP\u2010I are late\u2010onset diseases, with symptoms emerging usually during adulthood. CGPP, which is the national reference centre for these disorders, has a genetic lab that offers diagnostic, pre\u2010symptomatic and prenatal testing and an outpatient clinic to counsel and follow relatives at risk for hereditary ataxias, FAP\u2010I and Huntington disease (HD). The present work is a review of our 10\u2010year experience with psychological counselling of individuals at risk for MJD and FAP\u2010I. Persons at risk for FAP\u2010I may show a better response to pre\u2010symptomatic testing than those who are at risk for MJD and HD because of the availability of liver transplantation, which may improve their health and life expectancy. Psychological well\u2010being and specific distress of MJD and FAP\u2010I test applicants, before undergoing genetic testing (baseline level) and 3 to 6 months after disclosure of test results, have shown a low level of change, both in identified carriers and non\u2010carriers. A major goal of psychological characterization of at\u2010risk individuals for MJD and FAP\u2010I is to determine the factors that influence the uptake of genetic testing.<\/jats:p>","DOI":"10.1111\/j.1399-0004.2006.00606.x","type":"journal-article","created":{"date-parts":[[2006,3,30]],"date-time":"2006-03-30T09:51:08Z","timestamp":1143712268000},"page":"297-305","source":"Crossref","is-referenced-by-count":34,"title":["Psychological aspects of pre\u2010symptomatic testing for Machado\u2013Joseph disease and familial amyloid polyneuropathy type 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