Multiplex ligation-dependent probe amplification assay for detection of Mendelian Parkinson's disease

  • Primary screening tests for people with suspected Mendelian Parkinson’s disease (PD) are lacking. This study proposed multiplex ligation-dependent probe amplification (MLPA) as a tool to detect parkinsonism cases.
  • Findings indicated that MLPA was successful in 9% (n=51) of the entire cohort (n=567). This included 27 (4.8%) LRRK2 G2019S mutations, 19 (3.4%) PRKN mutations, and 5 (0.9%) SNCA locus duplications. In addition, North African ancestry (P<0.0001), female sex (P =0.004), and younger age at onset (P <0.0008) were significantly associated with a positive test.
  • According to the authors, the use of MLPA may improve testing for parkinsonism’s cases with a family history.