Focus on genetic modifiers of polyglutamine diseases / 中华神经科杂志

ABSTRACT

Polyglutamine (PolyQ) diseases are a group of clinically and genetically heterogeneous neurodegenerative diseases, due to an expanded CAG repeat in a coding region of the respective genes leading to neurodegenerative phenotypes by selective neuronal loss. Overall, only part of variance (50%-70%) in age at onset is explained by (CAG)n length, suggesting genetic modifying factors independent of (CAG)n size may contribute to clinical heterogeneity. Here, the research history of genetic modifiers in polyQ diseases is reviewed, and the major findings and current research status are discussed.