Psychological aspects of pre-symptomatic testing for Machado–Joseph disease and familial amyloid polyneuropathy type I
| dc.contributor.author | Rolim, Luísa | |
| dc.contributor.author | Leite, Ângela | |
| dc.contributor.author | Lêdo, S. | |
| dc.contributor.author | Paneque, M. | |
| dc.contributor.author | Sequeiros, J. | |
| dc.contributor.author | Fleming, Manuela | |
| dc.date.accessioned | 2013-01-16T13:49:57Z | |
| dc.date.available | 2013-01-16T13:49:57Z | |
| dc.date.issued | 2006 | |
| dc.description.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. | pt_PT |
| dc.identifier.citation | 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 | pt_PT |
| dc.identifier.uri | http://repositorio.ismt.pt/handle/123456789/41 | |
| dc.language.iso | eng | pt_PT |
| dc.publisher | Clin Genet | pt_PT |
| dc.rights | info:eu-repo/semantics/openAccess | pt_PT |
| dc.subject | familial amyloidosis | pt_PT |
| dc.subject | genetic counselling | pt_PT |
| dc.subject | genetic testing | pt_PT |
| dc.subject | hereditary ataxias | pt_PT |
| dc.subject | psychosocial genetics | pt_PT |
| dc.title | Psychological aspects of pre-symptomatic testing for Machado–Joseph disease and familial amyloid polyneuropathy type I | pt_PT |
| dc.type | article | pt_PT |