Elevated methylation levels, reduced expression levels, and frequent contractions in a clinical cohort of C9orf72 expansion carriers.
Jazmyne L JacksonNiCole A FinchMatthew C BakerJennifer M KachergusMariely DeJesus-HernandezKimberly PereiraElizabeth ChristopherMercedes PrudencioMichael G HeckmanE Aubrey ThompsonDennis W DicksonJaimin ShahBjörn OskarssonLeonard PetrucelliRosa RademakersMarka van BlitterswijkPublished in: Molecular neurodegeneration (2020)
In blood from C9orf72 expansion carriers, we found elevated methylation levels, reduced expression levels, and unstable expansions that tend to contract in successive generations, arguing against anticipation.