Genetic counseling and presymptomatic testing programs for Machado-Joseph disease: lessons from Brazil and Portugal

Genetic counseling and presymptomatic testing programs for Machado-Joseph disease: lessons from Brazil and Portugal

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. Pr...

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Bibliographic Details
Main Authors: Lavínia Schuler-Faccini, Claudio Maria Osorio, Flavia Romariz, Milena Paneque, Jorge Sequeiros, Laura Bannach Jardim
Format: Article
Language:English
Published: Sociedade Brasileira de Genética 2014-01-01
Series:Genetics and Molecular Biology
Subjects:
SCA3
Machado-Joseph
presymptomatic test
ataxia
genetic testing
psychosocial
psychological issues
Online Access:http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572014000200012&lng=en&tlng=en

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http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572014000200012&lng=en&tlng=en

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