BACKGROUND AND PURPOSE: Mutations in leucine-rich repeat kinase 2 (LRRK2) gene are associated with both familial and idiopathic Parkinson's disease (PD), whereas mutations in PARK2 (PARKIN) gene result in early onset recessive PD. Here, the objectives were to determine the frequency of LRRK2 G2019S and R1441G mutations in a PD population from southern Spain; to search for LRRK2 mutations in familial PD cases and to study the effect of PARKIN mutations on clinical features of LRRK2-associated; PD. METHODS: We included 187 PD patients (172 idiopathic, 15 familial) and 287 control subjects from southern Spain. LRRK2 and PARKIN mutations were screened, and clinical features of LRRK2-associated PD were examined. RESULTS: Three (1.7%) idiopathic PD patients carried the G2019S, whereas another three (1.7%) had the R1441G. A novel polymorphism D1420N was found in two (13.3%) familial PD patients. One G2019S carrier also had a homozygous PARKIN deletion, who had early onset PD with clinical symptoms similar to those with PARKIN-associated PD. The remaining LRRK2-asscociated patients had clinical manifestations similar to those with idiopathic PD. CONCLUSIONS: G2019S and R1441G are common LRRK2 mutations in PD patients in this region. PARKIN mutations override clinical features in LRRK2-associated PD.
BACKGROUND AND PURPOSE: Mutations in leucine-rich repeat kinase 2 (LRRK2) gene are associated with both familial and idiopathic Parkinson's disease (PD), whereas mutations in PARK2 (PARKIN) gene result in early onset recessive PD. Here, the objectives were to determine the frequency of LRRK2G2019S and R1441G mutations in a PD population from southern Spain; to search for LRRK2 mutations in familial PD cases and to study the effect of PARKIN mutations on clinical features of LRRK2-associated; PD. METHODS: We included 187 PDpatients (172 idiopathic, 15 familial) and 287 control subjects from southern Spain. LRRK2 and PARKIN mutations were screened, and clinical features of LRRK2-associated PD were examined. RESULTS: Three (1.7%) idiopathic PDpatients carried the G2019S, whereas another three (1.7%) had the R1441G. A novel polymorphism D1420N was found in two (13.3%) familial PDpatients. One G2019S carrier also had a homozygous PARKIN deletion, who had early onset PD with clinical symptoms similar to those with PARKIN-associated PD. The remaining LRRK2-asscociated patients had clinical manifestations similar to those with idiopathic PD. CONCLUSIONS:G2019S and R1441G are common LRRK2 mutations in PDpatients in this region. PARKIN mutations override clinical features in LRRK2-associated PD.
Authors: Min Liu; Samantha A Bender; Gregory D Cuny; Woody Sherman; Marcie Glicksman; Soumya S Ray Journal: Biochemistry Date: 2013-03-01 Impact factor: 3.162
Authors: Mario Cornejo-Olivas; Luis Torres; Mario R Velit-Salazar; Miguel Inca-Martinez; Pilar Mazzetti; Carlos Cosentino; Federico Micheli; Claudia Perandones; Elena Dieguez; Victor Raggio; Vitor Tumas; Vanderci Borges; Henrique B Ferraz; Carlos R M Rieder; Artur Shumacher-Schuh; Carlos Velez-Pardo; Marlene Jimenez-Del-Rio; Francisco Lopera; Jorge Chang-Castello; Brennie Andreé-Munoz; Sarah Waldherr; Dora Yearout; Cyrus P Zabetian; Ignacio F Mata Journal: NPJ Parkinsons Dis Date: 2017-06-02
Authors: Sara Bandres-Ciga; Sarah Ahmed; Marya S Sabir; Cornelis Blauwendraat; Astrid D Adarmes-Gómez; Inmaculada Bernal-Bernal; Marta Bonilla-Toribio; Dolores Buiza-Rueda; Fátima Carrillo; Mario Carrión-Claro; Pilar Gómez-Garre; Silvia Jesús; Miguel A Labrador-Espinosa; Daniel Macias; Carlota Méndez-Del-Barrio; Teresa Periñán-Tocino; Cristina Tejera-Parrado; Laura Vargas-González; Monica Diez-Fairen; Ignacio Alvarez; Juan Pablo Tartari; Mariateresa Buongiorno; Miquel Aguilar; Ana Gorostidi; Jesús Alberto Bergareche; Elisabet Mondragon; Ana Vinagre-Aragon; Ioana Croitoru; Javier Ruiz-Martínez; Oriol Dols-Icardo; Jaime Kulisevsky; Juan Marín-Lahoz; Javier Pagonabarraga; Berta Pascual-Sedano; Mario Ezquerra; Ana Cámara; Yaroslau Compta; Manel Fernández; Rubén Fernández-Santiago; Esteban Muñoz; Eduard Tolosa; Francesc Valldeoriola; Isabel Gonzalez-Aramburu; Antonio Sanchez Rodriguez; María Sierra; Manuel Menéndez-González; Marta Blazquez; Ciara Garcia; Esther Suarez-San Martin; Pedro García-Ruiz; Juan Carlos Martínez-Castrillo; Lydia Vela-Desojo; Clara Ruz; Francisco Javier Barrero; Francisco Escamilla-Sevilla; Adolfo Mínguez-Castellanos; Debora Cerdan; Cesar Tabernero; Maria Jose Gomez Heredia; Francisco Perez Errazquin; Manolo Romero-Acebal; Cici Feliz; Jose Luis Lopez-Sendon; Marina Mata; Irene Martínez Torres; Jonggeol Jeffrey Kim; Clifton L Dalgard; Janet Brooks; Sara Saez-Atienzar; J Raphael Gibbs; Rafael Jorda; Juan A Botia; Luis Bonet-Ponce; Karen E Morrison; Carl Clarke; Manuela Tan; Huw Morris; Connor Edsall; Dena Hernandez; Javier Simon-Sanchez; Mike A Nalls; Sonja W Scholz; Adriano Jimenez-Escrig; Jacinto Duarte; Francisco Vives; Raquel Duran; Janet Hoenicka; Victoria Alvarez; Jon Infante; Maria José Marti; Jordi Clarimón; Adolfo López de Munain; Pau Pastor; Pablo Mir; Andrew Singleton Journal: Mov Disord Date: 2019-10-29 Impact factor: 10.338
Authors: Daniel Macías-García; María Teresa Periñán; Laura Muñoz-Delgado; María Valle Jimenez-Jaraba; Miguel Ángel Labrador-Espinosa; Silvia Jesús; Dolores Buiza-Rueda; Carlota Méndez-Del Barrio; Astrid Adarmes-Gómez; Pilar Gómez-Garre; Pablo Mir Journal: NPJ Parkinsons Dis Date: 2021-07-16