BACKGROUND: Parkin mutations in patients with early-onset Parkinson's disease (EOPD) are estimated to occur in 49% of familial cases and 18% of sporadic cases. METHODS: We analyzed the entire sequence-coding region and dosage mutations of parkin in 63 Mexican-mestizo EOPD patients and 120 controls. RESULTS: Parkin mutations were present in 34 patients (54.0%). Exon rearrangements, predominantly spanning exons 9 and 12 (31.7% and 19.0%, respectively) were present in 32 patients, with 17.5% carrying simple heterozygous and 25.4% carrying compound heterozygous parkin mutations. CONCLUSIONS: A higher frequency of parkin exon rearrangements than of sequence mutations was observed. Patients with parkin exons 9 and 12 rearrangements showed a later age at onset than did cases with other regions affected (40.3 ± 4.5 vs 30.1 ± 8.8; P = .005), suggesting a mutational hot spot in the etiology of Mexican-mestizo patients with EOPD. To our knowledge, this study represents the largest sampling of Mexican-mestizo patients with EOPD cases for which parkin sequence and dosage alterations were analyzed. .
BACKGROUND: Parkin mutations in patients with early-onset Parkinson's disease (EOPD) are estimated to occur in 49% of familial cases and 18% of sporadic cases. METHODS: We analyzed the entire sequence-coding region and dosage mutations of parkin in 63 Mexican-mestizo EOPD patients and 120 controls. RESULTS: Parkin mutations were present in 34 patients (54.0%). Exon rearrangements, predominantly spanning exons 9 and 12 (31.7% and 19.0%, respectively) were present in 32 patients, with 17.5% carrying simple heterozygous and 25.4% carrying compound heterozygous parkin mutations. CONCLUSIONS: A higher frequency of parkin exon rearrangements than of sequence mutations was observed. Patients with parkin exons 9 and 12 rearrangements showed a later age at onset than did cases with other regions affected (40.3 ± 4.5 vs 30.1 ± 8.8; P = .005), suggesting a mutational hot spot in the etiology of Mexican-mestizo patients with EOPD. To our knowledge, this study represents the largest sampling of Mexican-mestizo patients with EOPD cases for which parkin sequence and dosage alterations were analyzed. .
Authors: Ondrej Fiala; Daniela Zahorakova; Lenka Pospisilova; Jana Kucerova; Milada Matejckova; Pavel Martasek; Jan Roth; Evzen Ruzicka Journal: PLoS One Date: 2014-09-19 Impact factor: 3.240
Authors: Elif Irem Sarihan; Eduardo Pérez-Palma; Lisa-Marie Niestroj; Douglas Loesch; Miguel Inca-Martinez; Andrea R V R Horimoto; Mario Cornejo-Olivas; Luis Torres; Pilar Mazzetti; Carlos Cosentino; Elison Sarapura-Castro; Andrea Rivera-Valdivia; Elena Dieguez; Victor Raggio; Andres Lescano; Vitor Tumas; Vanderci Borges; Henrique B Ferraz; Carlos R Rieder; Artur F Schumacher-Schuh; Bruno L Santos-Lobato; Carlos Velez-Pardo; Marlene Jimenez-Del-Rio; Francisco Lopera; Sonia Moreno; Pedro Chana-Cuevas; William Fernandez; Gonzalo Arboleda; Humberto Arboleda; Carlos E Arboleda-Bustos; Dora Yearout; Cyrus P Zabetian; Timothy A Thornton; Timothy D O'Connor; Dennis Lal; Ignacio F Mata Journal: Mov Disord Date: 2020-11-05 Impact factor: 10.338