Parkinson's Disease Gene Screening in Familial Cases from Central and South America.
Lorenzo-Betancor O, Mehta S, Ramchandra J, Mumuney S, Schumacher-Schuh AF, Cornejo-Olivas M, Sarapura-Castro EH, Torres L, Inca-Martinez MA, Mazzetti P, Cosentino C, Micheli F, Tumas V, Dieguez E, Raggio V, Borges V, Ferraz HB, Chana-Cuevas P, Jimenez-Del-Rio M, Velez-Pardo C, Moreno S, Lopera F, Orozco-Velez JL, Muñoz-Ospina B, Rieder CRM, Medina-Escobar A, Yearout D, Zabetian CP, Mata IF; Latin American Research Consortium on the Genetics of PD (LARGE‐PD).
Lorenzo-Betancor O, et al.
Mov Disord. 2024 Oct;39(10):1843-1855. doi: 10.1002/mds.29931. Epub 2024 Jul 25.
Mov Disord. 2024.
PMID: 39051491
Free PMC article.
RESULTS: We identified pathogenic variants in 41 individuals (12.7%) in FBXO7, GCH1, LRRK2, PARK7, PINK1, PLA2G6, PRKN, SNCA, and TARDBP, GBA1 risk variants in 25 individuals (7.7%), and variants of uncertain significance in another 24 individuals (7.4%) in ATP13A2, ATP1A3 …
RESULTS: We identified pathogenic variants in 41 individuals (12.7%) in FBXO7, GCH1, LRRK2, PARK7, PINK1, PLA2G6, PRKN, SNCA, and TAR …