Objective: To describe the minimum prevalence and distribution of monogenic forms of PD in a chilean cohort

Background: About 3–5% of Parkinson’s disease (PD) patients have a monogenic form of the disease. LRRK2 and SNCA are the most prevalent in autosomal dominant forms, and PRKN and PINK1 in recessive ones. Information on Chile’s epidemiology is scarce: only 5 studies have assessed pathogenic mutations on Chilean patients, mainly case series. Objectives: To describe the minimum prevalence and distribution of monogenic forms of PD in a chilean cohort.

Method: We consecutively assessed PD patients older than 18 years old that consulted at CETRAM movement disorders center from April 2021 to November 2022. Those that fulfilled the United Kingdom Parkinson’s Disease Brain Bank Society criteria and agreed to participate were included and evaluated according a structured template. DNA from blood was extracted according to standard protocols and genotyping with Illumina Multi-Ethnic Genotyping Array (MEGA) assay.

Results: 116 PD patients were included with a mean age of onset 55.2 ± 11.4 years, and 55% were men. 35% began before 50 years of age and 36% had positive family history. In 10% of the patients, a pathogenic mutation was found; 4 in GBA (N370S) and 8 in LRRK2 (G2019S). 25% of the GBA  patients and 75% of LRRK2 had a positive family history, and their mean age of onset was 61.1 ± 7.5 for the former and  56.5 ± 12.1 for the latter. No mutation on SNCA, DJ1, VPS35, PARKIN nor PINK1 was found.

Conclusion:

The minimum prevalence of monogenic PD was 10% and LRRK2 the most prevalent one.

This abstract is going to be presented in the III Brazilian neurogenetic congress, from 9-11 of march of 2023

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MDS Abstracts - https://www.mdsabstracts.org/abstract/monogenic-parkinsons-disease-in-a-chilean-cohort/