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Título: Psychological aspects of pre-symptomatic testing for Machado–Joseph disease and familial amyloid polyneuropathy type I
Autores: Rolim, Luísa
Leite, Ângela
Lêdo, S.
Paneque, M.
Sequeiros, J.
Fleming, Manuela
Palavras-chave: familial amyloidosis
genetic counselling
genetic testing
hereditary ataxias
psychosocial genetics
Data: 2006
Editora: Clin Genet
Citação: Rolim L, Leite Aˆ , Leˆ do S, Paneque M, Sequeiros J, Fleming M. Psychological aspects of pre-symptomatic testing for Machado–Joseph disease and familial amyloid polyneuropathy type I. Clin Genet 2006: 69: 297–305. # Blackwell Munksgaard, 2006
Resumo: 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.
URI: http://repositorio.ismt.pt/handle/123456789/41
Aparece nas colecções:Publicações Científicas Psicologia

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