Monogenic pathogenic variants very rare in a large group of people with Parkinson disease


  • Analysis of a large sample of people with Parkinson disease (PD) identified a low frequency of known monogenic pathogenic variants, indicating that these variants cannot fully explain familial aggregation of PD.

Why this matters

    Further work is needed on the interplay between polygenic and other influences on the heritability of PD, to allow development of better diagnostic and therapeutic tools.