Brain and blood DNA methylation profiling in Machado-Joseph disease (MJD)/spinocerebellar ataxia type 3 (SCA3)
This study provides the first integrated analysis of DNA methylation in Machado-Joseph disease, revealing that while brain alterations are subtle, region-specific, and enriched for myelination pathways, peripheral blood methylation changes are limited, do not mirror brain findings, and are more pronounced in preclinical carriers.