LRRK2 G2019S taşıyıcılarının uzunlamasına klinik ve biyobelirteç özellikleri: PPMI kohortu

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Abstract Background: We examined 2-year longitudinal change in clinical features and biomarkers in LRRK2 non-manifesting carriers (NMCs) versus healthy controls (HCs) enrolled in the Parkinson’s Progression Markers Initiative (PPMI). Methods: We analyzed 2-year longitudinal data from 176 LRRK2 G2019S NMCs and 185 HCs. All participants were assessed annually with comprehensive motor and non-motor scales, dopamine transporter (DAT) imaging and biofluid biomarkers. The latter included cerebrospinal fluid (CSF) Abeta, total tau and phospho-tau; serum urate and neurofilament light chain (NfL); and urine bis(monoacylglycerol) phosphate (BMP). Findings: At baseline, LRRK2 G2019S NMCs had a mean (SD) age of 62 (7.7) years and were 56% female. 13% had DAT deficit (defined as LRRK2 NMCs developed PD during the follow up. Interpretation: We observed no significant longitudinal change in clinical or biomarker measures in LRRK2 G2019S NMCs in this large, well-characterized cohort. Longer follow up and further selection of NMCs at highest risk for conversion is required for future prevention clinical trials.

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