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| Schuler-Faccini,Lavínia; Osorio,Claudio Maria; Romariz,Flavia; Paneque,Milena; Sequeiros,Jorge; Jardim,Laura Bannach. |
| Machado-Joseph disease (MJD) is an autosomal dominant, late-onset neurological disorder and the most common form of spinocerebellar ataxia (SCA) worldwide. Diagnostic genetic testing is available to detect the disease-causing mutation by direct sizing of the CAG repeat tract in the ataxin 3 gene. Presymptomatic testing (PST) can be used to identify persons at risk of developing the disease. Genetic counseling provides patients with information about the disease, genetic risks, PST, and the decision-making process. In this study, we present the protocol used in PST for MJD and the relevant observations from two centers: Brazil (Porto Alegre) and Portugal (Porto). We provide a case report that illustrates the significant ethical and psychological issues... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: SCA3; Machado-Joseph; Presymptomatic test; Ataxia; Genetic testing; Psychosocial; Psychological issues. |
| Ano: 2014 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572014000200012 |
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