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.

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