title: Psychological aspects of pre-symptomatic testing for Machado-Joseph disease and familial amyloid polyneuropathy type I.
abstract: Machado-Joseph disease [MJD, also spinocerebellar ataxia type 3 (SCA3)] and familial amyloid polyneuropathy type I (FAP-I 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-I are late-onset 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-symptomatic and prenatal testing and an outpatient clinic to counsel and follow relatives at risk for hereditary ataxias, FAP-I and Huntington disease (HD). The present work is a review of our 10-year experience with psychological counselling of individuals at risk for MJD and FAP-I. Persons at risk for FAP-I may show a better response to pre-symptomatic 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-being and specific distress of MJD and FAP-I 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-carriers. A major goal of psychological characterization of at-risk individuals for MJD and FAP-I is to determine the factors that influence the uptake of genetic testing.
authors.affiliation: Centro de Genética Preditiva e Preventiva, Institute for Molecular and Cell Biology, University of Porto, Portugal. lrolim@ufp.pt
authors.forename: L
authors.initials: L
authors.lastname: Rolim
authors.forename: A
authors.initials: A
authors.lastname: Leite
authors.forename: S
authors.initials: S
authors.lastname: Lêdo
authors.forename: M
authors.initials: M
authors.lastname: Paneque
authors.forename: J
authors.initials: J
authors.lastname: Sequeiros
authors.forename: M
authors.initials: M
authors.lastname: Fleming
mesh_terms: D028227:Amyloid Neuropathies, Familial / Q000175:diagnosis* / Q000235:genetics / Q000523:psychology; D004247:DNA / Q000032:analysis / Q000235:genetics; D005817:Genetic Counseling / Q000523:psychology*; D005820:Genetic Testing / Q000523:psychology*; D006801:Humans; D017827:Machado-Joseph Disease / Q000175:diagnosis* / Q000235:genetics / Q000523:psychology; D011174:Portugal; D012307:Risk Factors
chemical_list: D004247:DNA