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Inherited Parkinson disease (IPD) is most often caused by mutations in the gene for leucine-rich kinase 2 (LRRK2), such as p.G2019S. A possible biomarker for p.G2019S is α-synuclein. To test for this association, investigators used real-time quaking-induced conversion (RT-QuIC) to detect α-synuclein aggregates in the cerebrospinal fluid (CSF) of 15 p.G2019S carriers, 10 patients with idiopathic PD, 16 p.G2019S nonmanifesting carriers (NMC), and 10 healthy controls.
RT-QuIC had 90% sensitivity and 80% specificity for IPD. RT-QuIC was positive in fewer LRRK2 p.G2019S carriers (40%) than IPD patients, but more than in healthy controls (20%) or LRRK2 NMC (19%). LRRK2-PD patients with positive and negative RT-QuIC did not have any clinical differ…