Navegação por Assunto "SCA3"
Resultados 1-4 de 4
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Escalas clínicas, neuroimagem e neurofisiologia ocular como biomarcadores de progressão do período pré-atáxico na ataxia espinocerebelar tipo 3/doença de Machado-Joseph (SCA3/MJD)
(2022) [Tese]Base teórica A ataxia espinocerebelar do tipo 3, também chamada de Doença de Machado-Joseph (SCA3/MJD), é uma doença neurodegenerativa da classe das poliglutaminopatias caracterizada por ataxia de marcha e outros distúrbios ... -
Genetic counseling and presymptomatic testing programs for Machado-Joseph Disease : lessons from Brazil and Portugal
(2014) [Artigo de periódico]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 ... -
Normal ATXN3 allele but not CHIP polymorphisms modulates age at onset in Machado–Joseph disease
(2012) [Artigo de periódico]Background: Age at onset (AO) in Machado–Joseph disease (MJD) is closely associated with the length of the CAG repeat at the mutant ATXN3 allele, but there are other intervening factors. Experimental evidence indicates ... -
Novel Machado-Joseph disease-modifying genes and pathways identified by whole-exome sequencing
(2022) [Artigo de periódico]Machado-Joseph disease (MJD/SCA3) is a neurodegenerative polyglutamine disorder exhibiting a wide spectrum of phenotypes. The abnormal size of the (CAG)n at ATXN3 explains ~55% of the age at onset variance, suggesting the ...