155 results on '"Mazzetti, Pilar"'
Search Results
2. Polygenic risk prediction and SNCA haplotype analysis in a Latino Parkinson's disease cohort
- Author
-
Loesch, Douglas P., Horimoto, Andrea R.V.R., Sarihan, Elif Irem, Inca-Martinez, Miguel, Mason, Emily, Cornejo-Olivas, Mario, Torres, Luis, Mazzetti, Pilar, Cosentino, Carlos, Sarapura-Castro, Elison, Rivera-Valdivia, Andrea, Medina, Angel C., Dieguez, Elena, Raggio, Victor, Lescano, Andres, Tumas, Vitor, Borges, Vanderci, Ferraz, Henrique B., Rieder, Carlos R., Schumacher-Schuh, Artur, Santos-Lobato, Bruno L., Velez-Pardo, Carlos, Jimenez-Del-Rio, Marlene, Lopera, Francisco, Moreno, Sonia, Chana-Cuevas, Pedro, Fernandez, William, Arboleda, Gonzalo, Arboleda, Humberto, Arboleda-Bustos, Carlos E., Yearout, Dora, Zabetian, Cyrus P., Thornton, Timothy A., Mata, Ignacio F., and O'Connor, Timothy D. more...
- Published
- 2022
- Full Text
- View/download PDF
Catalog
3. Parkinson's Disease Gene Screening in Familial Cases from Central and South America.
- Author
-
Lorenzo‐Betancor, Oswaldo, Mehta, Seysha, Ramchandra, Janvi, Mumuney, Sekinat, Schumacher‐Schuh, Artur F., Cornejo‐Olivas, Mario, Sarapura‐Castro, Elison H., Torres, Luis, Inca‐Martinez, Miguel A., Mazzetti, Pilar, Cosentino, Carlos, Micheli, Federico, Tumas, Vitor, Dieguez, Elena, Raggio, Victor, Borges, Vanderci, Ferraz, Henrique B., Chana‐Cuevas, Pedro, Jimenez‐Del‐Rio, Marlene, and Velez‐Pardo, Carlos more...
- Abstract
Background: Parkinson's disease (PD) is the second most common neurodegenerative disease following Alzheimer's disease. Nearly 30 causative genes have been identified for PD and related disorders. However, most of these genes were identified in European‐derived families, and little is known about their role in Latin American populations. Objectives: Our goal was to assess the spectrum and frequency of pathogenic variants in known PD genes in familial PD patients from Latin America. Methods: We selected 335 PD patients with a family history of PD from the Latin American Research Consortium on the Genetics of PD. We capture‐sequenced the coding regions of 26 genes related to neurodegenerative parkinsonism. Of the 335 PD patients, 324 had sufficient sequencing coverage to be analyzed. 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, DNAJC13, DNAJC6, GBA1, LRKK2, PINK1, VPS13C, and VPS35. Of the 70 unique variants identified, 19 were more frequent in Latin Americans than in any other population. Conclusions: This is the first screening of known PD genes in a large cohort of patients with familial PD from Latin America. There were substantial differences in the spectrum of variants observed in comparison to previous findings from PD families of European origin. Our data provide further evidence that differences exist between the genetic architecture of PD in Latinos and European‐derived populations. © 2024 The Author(s). Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society. [ABSTRACT FROM AUTHOR] more...
- Published
- 2024
- Full Text
- View/download PDF
4. Distribution of the CAG Triplet Repeat in ATXN1, ATXN3, and CACNA1A Loci in Peruvian Population
- Author
-
Gonzales-Sáenz, Claudia, Cruz-Rodriguez, Carolina, Espinoza-Huertas, Keren, Véliz-Otani, Diego, Marca, Victoria, Ortega, Olimpio, Milla-Neyra, Karina, Alvarez-Tejada, Jorge, Mazzetti, Pilar, and Cornejo-Olivas, Mario more...
- Published
- 2020
- Full Text
- View/download PDF
5. Huntington's disease-like disorders in Latin America and the Caribbean
- Author
-
Walker, Ruth H., Gatto, Emilia M., Bustamante, M. Leonor, Bernal-Pacheco, Oscar, Cardoso, Francisco, Castilhos, Raphael M., Chana-Cuevas, Pedro, Cornejo-Olivas, Mario, Estrada-Bellmann, Ingrid, Jardim, Laura B., López-Castellanos, Ricardo, López-Contreras, Ricardo, Maia, Debora P., Mazzetti, Pilar, Miranda, Marcelo, Rodríguez-Violante, Mayela, Teive, Helio, and Tumas, Vitor more...
- Published
- 2018
- Full Text
- View/download PDF
6. ATXN10 Microsatellite Distribution in a Peruvian Amerindian Population
- Author
-
Véliz-Otani, Diego, Inca-Martinez, Miguel, Bampi, Giovana B., Ortega, Olimpio, Jardim, Laura B., Saraiva-Pereira, Maria Luiza, Mazzetti, Pilar, and Cornejo-Olivas, Mario
- Published
- 2019
- Full Text
- View/download PDF
7. Small vulnerable newborns: the urgent need of strong actions in Peru and the entire Latin America
- Author
-
Aguero, Lourdes, Alayo, Erasmo, Albán, Wendy, Altobelli, Laura, Ambulay, Rosa, Arnillas, Federico, Arósquipa, Carlos, Ashorn, Per, Haapaniemi, Tiia, Bautista, Rossana, Bellomo, Sicilia, Blas, Magaly, Butrón, Betzabé, Arredondo, Henry Cabrera, Calle, María del Carmen, Cam, Luis, Carrasco, Amyela, Castañeda, Enrique, Espinoza, Elizabeth Castillo, Chiang, Marilu, Chu, Felipe, Conde, Gabriela, Cordero, Luis, Cortez, Carla, Diaz, Lilian Cuba, de María Pilar Curi Tito, Flor, Dávila, Miguel, Delgado, Carlos, Fano, Diego, MaríaFernandez, Sierra, Carmen Fernández, Flores, Yenka, Galdos, Jorge, Gonzales, Gustavo F., Gonzales, Carla, Gonzalez Diaz, Jaime Genaro, Guzmán Alvarez, Eberth Javier, Haapaniemi, Herbozo, Cecilia, Hinojosa, Rosmery, Huamaní, Nelly Huamaní, Huayanay, Carlos, Huicho, Lidya, Huicho, Luis, Huertas Fuentes, Mirtha Elena, Muñoz, Ofelia León, Velarde, Fabiola León, Luna, Ariela, Mazzetti, Pilar, Mercado, Nelly, Olivera, Mauro Meza, Huertas, Ronald Monasterio, Mujica, Oscar, Munayco, Cesar, Niño de Guzman, Jessica, Olivareas, Lucysancy, Nishikawa, Julio, Oriundo, Guillermo, Panta, Magali Ortiz, Pajuelo, Monica, Pardo, Karim, Tarqui, Tania Pariona, Peña, Ricardo, Pessah, Silvia, Quezada, Hugo, Rado, Sandra, Repo, Ritva, Reyes, Mary, Toro, Rosa Rodriguez, Lopez, Soleda Ruiz, Salcedo, Celina, Saly Rosas Solano, José Luis, Samamé, Teresa, Sanchez, Laura, Sánchez Griñan, Maria Inés, Sánchez Tonohuye, Julio César, Shimabuku, Roberto, Alvarado, Paul Soplin, Salazar, Mario Tavera, Ugaz, María Elena, Urtecho Vera, Florencia Amada, Morales, Rodrigo Valladares, Bejar, Constanza Vallenas, Vargas-Machuca, Jeannette Avila, Vega, Sarah María, Velasquez, Pablo, Velasquez, José Enrique, Víctora, Cesar G., Vidal, Elisa, Vila, Taissa, Villalta, Marianela, Villar, Amelia, Montesinos, Eugenio Villar, Villareal, Edith, Zamora, Victor, Zuazo, Brizza, and Vidal-Cardenas, Elisa more...
- Published
- 2024
- Full Text
- View/download PDF
8. A Peruvian family with a novel PARK2 mutation: Clinical and pathological characteristics
- Author
-
Cornejo-Olivas, Mario R., Torres, Luis, Mata, Ignacio F., Mazzetti, Pilar, Rivas, Diana, Cosentino, Carlos, Inca-Martinez, Miguel, Cuba, Juan M., Zabetian, Cyrus P., and Leverenz, James B.
- Published
- 2015
- Full Text
- View/download PDF
9. Juvenile‐Onset Huntington's Disease in Peru: A Case Series of 32 Patients
- Author
-
Vishnevetsky, Anastasia, primary, Cornejo‐Olivas, Mario, additional, Sarapura‐Castro, Elison, additional, Inca‐Martinez, Miguel, additional, Rabinowitz, Danielle, additional, Milla‐Neyra, Karina, additional, Mazzetti, Pilar, additional, and Bird, Thomas, additional more...
- Published
- 2022
- Full Text
- View/download PDF
10. Machado Joseph-Disease Is Rare in the Peruvian Population
- Author
-
Cornejo-Olivas, Mario, primary, Solis-Ponce, Lesly, additional, Araujo-Aliaga, Ismael, additional, Milla-Neyra, Karina, additional, Ortega, Olimpio, additional, Illanes-Manrique, Maryenela, additional, Mazzetti, Pilar, additional, Manrique-Enciso, Carla, additional, Cubas-Montecino, Diana, additional, Saraiva-Pereira, Maria Luiza, additional, Jardim, Laura B., additional, and Sarapura-Castro, Elison, additional more...
- Published
- 2022
- Full Text
- View/download PDF
11. Neurology outreach clinic for Huntington disease in Peru: Lessons for neurodegenerative diseases
- Author
-
Vishnevetsky, Anastasia, Illanes-Manrique, Maryenela, Inca-Martinez, Miguel, Milla-Neyra, Karina, Sarapura-Castro, Elison, Mazzetti, Pilar, and Cornejo-Olivas, Mario
- Published
- 2018
- Full Text
- View/download PDF
12. Spinocerebellar Ataxia type 3 is rare in the Peruvian Population
- Author
-
Cornejo-Olivas, Mario, primary, Solis-Ponce, Lesly, additional, Araujo-Aliaga, Ismael, additional, Milla-Neyra, Karina, additional, Ortega, Olimpio, additional, Illanes-Manrique, Maryenela, additional, Mazzetti, Pilar, additional, Manrique-Enciso, Carla, additional, Cubas-Montecino, Diana, additional, Saraiva-Pereira, Maria Luiza, additional, Jardim, Laura B., additional, and Sarapura-Castro, Elison, additional more...
- Published
- 2022
- Full Text
- View/download PDF
13. Neurogenetics in Peru: clinical, scientific and ethical perspectives
- Author
-
Cornejo-Olivas, Mario, Espinoza-Huertas, Keren, Velit-Salazar, Mario R., Veliz-Otani, Diego, Tirado-Hurtado, Indira, Inca-Martinez, Miguel, Silva-Paredes, Gustavo, Milla-Neyra, Karina, Marca, Victoria, Ortega, Olimpio, and Mazzetti, Pilar more...
- Published
- 2015
- Full Text
- View/download PDF
14. Distonías primarias respondedoras a levodopa (DRD): búsqueda sistemática en Latinoamérica
- Author
-
Zelada-Ríos, Laura, Sarapura-Castro, Elison, Solórzano-Palacios, Karol, La Serna-Infantes, Jorge, Aguirre-Quispe, Wilfor, Cosentino-Esquerre, Carlos, Urbina-Ramírez, Luis, Torres-Ramírez, Luis, Mazzetti, Pilar, and Cornejo-Olivas, Mario more...
- Abstract
Dopa-responsive dystonia (DRD) encompasses a heterogenous group of primary dystonias, caused by enzymatic deficiencies across the amines pathway and, by definition, show as their main characteristic a favorable and sustained response to levodopa. There are up to 6 genes associated with DRD, including pathogenic variants of the GCH1 gene as the most frequently involved. The typical presentation of DRD is characterized by start in childhood, lower limb-onset dystonia with daytime fluctuation, mild parkinsonism, and a sustained response to low doses of levodopa. A systematic literature search on DRD reported cases in Latin America is presented. Las distonías que responden a levodopa (DRD, siglas en inglés) abarcan un grupo de distonías primarias, causadas por deficiencias enzimáticas en la vía metabólica de las aminas y, por definición, comparten como característica principal su respuesta favorable y sostenida a levodopa. Existen hasta seis genes asociados a DRD, siendo el gen GCH1 el más frecuentemente involucrado. La presentación típica de esta entidad se caracteriza por su aparición en la niñez, distonía de inicio en miembros inferiores con fluctuación diurna, leve parkinsonismo y respuesta clara a dosis bajas de levodopa. Se incluye una búsqueda sistemática de la literatura con casos de DRD publicados en Latinoamérica. more...
- Published
- 2022
15. Erratum: Variable frequency of LRRK2 variants in the Latin American research consortium on the genetics of Parkinson’s disease (LARGE-PD), a case of ancestry
- Author
-
Cornejo-Olivas, Mario, Torres, Luis, Velit-Salazar, Mario R., Inca-Martinez, Miguel, Mazzetti, Pilar, Cosentino, Carlos, Micheli, Federico, Perandones, Claudia, Dieguez, Elena, Raggio, Victor, Tumas, Vitor, Borges, Vanderci, Ferraz, Henrique B., Rieder, Carlos R. M., Shumacher-Schuh, Artur, Velez-Pardo, Carlos, Jimenez-Del-Rio, Marlene, Lopera, Francisco, Chang-Castello, Jorge, Andreé-Munoz, Brennie, Waldherr, Sarah, Yearout, Dora, Zabetian, Cyrus P., and Mata, Ignacio F. more...
- Published
- 2018
- Full Text
- View/download PDF
16. Variable frequency of LRRK2 variants in the Latin American research consortium on the genetics of Parkinson’s disease (LARGE-PD), a case of ancestry
- Author
-
Cornejo-Olivas, Mario, Torres, Luis, Velit-Salazar, Mario R., Inca-Martinez, Miguel, Mazzetti, Pilar, Cosentino, Carlos, Micheli, Federico, Perandones, Claudia, Dieguez, Elena, Raggio, Victor, Tumas, Vitor, Borges, Vanderci, Ferraz, Henrique B., Rieder, Carlos R. M., Shumacher-Schuh, Artur, Velez-Pardo, Carlos, Jimenez-Del-Rio, Marlene, Lopera, Francisco, Chang-Castello, Jorge, Andreé-Munoz, Brennie, Waldherr, Sarah, Yearout, Dora, Zabetian, Cyrus P., and Mata, Ignacio F. more...
- Published
- 2017
- Full Text
- View/download PDF
17. Juvenile‐Onset Huntington's Disease in Peru: A Case Series of 32 Patients.
- Author
-
Vishnevetsky, Anastasia, Cornejo‐Olivas, Mario, Sarapura‐Castro, Elison, Inca‐Martinez, Miguel, Rabinowitz, Danielle, Milla‐Neyra, Karina, Mazzetti, Pilar, and Bird, Thomas
- Subjects
HUNTINGTON disease ,JUVENILE diseases ,SLEEP interruptions ,AGE of onset ,DATABASES - Abstract
Background: Juvenile‐onset Huntington's Disease (JoHD) or Huntington's disease (HD) with age of onset ≤20 years, is a rare clinical entity that often differs phenotypically from adult HD and represents only 1–15% of total HD cases. Objective: To characterize the genetic and clinical characteristics of 32 JoHD patients seen in a Peruvian Neurogenetics clinic from 2000–2018. Methods: This study is a retrospective clinical and genetic review. The clinical database in Lima, Peru was searched for HD patients seen in clinic between 2000 and 2018. Inclusion criteria were: (1) genetically confirmed disease; and (2) HD age of onset ≤20 years, according to the documented medical history. Results: Among 475 patients with genetically confirmed HD in the database, 32 patients (6.7%) had symptom onset at ≤20 years. Among JoHD patients with a known transmitting parent (30 of 32), paternal transmission accounted for 77% of cases. Anticipation was higher with paternal transmission compared to maternal transmission (27.5 ± 11.5 vs. 11.3 ± 7.1 years). Overall expanded CAG repeat length ranged from 44 to 110, with a mean length of 65.6 ± 15.4, and 14 (44%) cases had repeat length under 60. Of the 32 patients included in the study, 25 had detailed clinical symptomatology available, and many patients had unique clinical features such as prominent sleep disturbance (60% of patients), or parkinsonism (73%). Conclusions: This large case series of JoHD patients characterizes the Peruvian JoHD population, reports on unique familial relationships in JoHD, and highlights the varied symptomatic presentation of this rare disease. [ABSTRACT FROM AUTHOR] more...
- Published
- 2023
- Full Text
- View/download PDF
18. ATXN3, ATXN7, CACNA1A, and RAI1 Genes and Mitochondrial Polymorphism A10398G Did Not Modify Age at Onset in Spinocerebellar Ataxia Type 2 Patients from South America
- Author
-
Pereira, Fernanda S., Monte, Thais L., Locks-Coelho, Lucas D., Silva, Amanda S. P., Barsottini, Orlando, Pedroso, José L., Cornejo-Olivas, Mario, Mazzetti, Pilar, Godeiro, Clecio, Vargas, Fernando R., Lima, Maria-Angélica F. D., van der Linden, Jr, Hélio, Toralles, Maria Betânia Pereira, Medeiros, Paula F. V., Ribeiro, Erlane, Braga-Neto, Pedro, Salarini, Diego, Castilhos, Raphael M., Saraiva-Pereira, Maria-Luiza, Jardim, Laura Bannach, and Rede Neurogenetica more...
- Published
- 2015
- Full Text
- View/download PDF
19. LRRK2 mutations in patients with Parkinson's disease from Peru and Uruguay
- Author
-
Mata, Ignacio F., Cosentino, Carlos, Marca, Victoria, Torres, Luis, Mazzetti, Pilar, Ortega, Olimpio, Raggio, Victor, Aljanati, Ruth, Buzó, Ricardo, Yearout, Dora, Dieguez, Elena, and Zabetian, Cyrus P. more...
- Published
- 2009
- Full Text
- View/download PDF
20. Asociación entre el polimorfismo genético de la apolipoproteína E(ApoE) y la enfermedad de Parkinson
- Author
-
Marca, Victoria, Acosta, Oscar, Torres, Luis, Ortega, Olimpio, Cornejo-Olivas, Mario, Lindo-Samanamud, Saúl, Huerta, Doris, Cosentino, Carlos, Núñez, Oscar, and Mazzetti, Pilar
- Published
- 2013
21. F04 Linear mixed model for the age of onset prediction in huntington disease from a peruvian cohort
- Author
-
Cubas-Montecino, Diana, primary, Cornejo-Olivas, Mario, additional, Mazzetti, Pilar, additional, and Véliz-Otani, Diego, additional
- Published
- 2021
- Full Text
- View/download PDF
22. Ataxia Rating Scales—Psychometric Profiles, Natural History and Their Application in Clinical Trials
- Author
-
Saute, Jonas Alex Morales, Donis, Karina Carvalho, Serrano-Munuera, Carmen, Genis, David, Ramirez, Luís Torres, Mazzetti, Pilar, Pérez, Luis Velázquez, Latorre, Pilar, Sequeiros, Jorge, Matilla-Dueñas, Antoni, Jardim, Laura Bannach, and On behalf of the Iberoamerican Multidisciplinary Network for the Study of Movement Disorders (RIBERMOV) Study Group more...
- Published
- 2012
- Full Text
- View/download PDF
23. Salud neurológica en tiempos de COVID
- Author
-
Cornejo-Olivas, Mario, Custodio, Nilton, and Mazzetti, Pilar
- Abstract
.
- Published
- 2020
24. The distribution and risk effect of GBA variants in a large cohort of PD patients from Colombia and Peru
- Author
-
Velez-Pardo, Carlos, Lorenzo-Betancor, Oswaldo, Jimenez-Del-Rio, Marlene, Moreno, Sonia, Lopera, Francisco, Cornejo-Olivas, Mario, Torres, Luis, Inca-Martinez, Miguel, Mazzetti, Pilar, Cosentino, Carlos, Yearout, Dora, Waldherr, Sarah M., Zabetian, Cyrus P., and Mata, Ignacio F. more...
- Published
- 2019
- Full Text
- View/download PDF
25. Exploring the role of Amerindian genetic ancestry and ApoEε4 gene on Alzheimer disease in the Peruvian population
- Author
-
Cornejo‐Olivas, Mario R., primary, Rajabli, Farid, additional, Veliz‐Otani, Diego M., additional, Whitehead, Patrice L., additional, Hofmann, Natalia K., additional, Hamilton‐Nelson, Kara L., additional, Illanes‐Manrique, Maryenela, additional, Milla‐Neyra, Karina, additional, Marca, Victoria, additional, Sarapura‐Castro, Elison, additional, Rivera‐Valdivia, Andrea, additional, Mejía, Koni Katerin, additional, Adams, Larry D., additional, Mena, Pedro Ramon, additional, Vance, Jeffery M., additional, Isasi, Rosario, additional, Cuccaro, Michael L., additional, Beecham, Gary W., additional, Meza‐Vega, Maria, additional, Castro‐Suarez, Sheila, additional, Custodio, Nilton, additional, Montesinos, Rosa, additional, Mazzetti, Pilar, additional, and Pericak‐Vance, Margaret A, additional more...
- Published
- 2020
- Full Text
- View/download PDF
26. Genome-wide Analysis of Copy Number Variation in Latin American Parkinson's Disease Patients
- Author
-
Sarihan, Elif Irem, primary, Perez-Palma, Eduardo, additional, Niestroj, Lisa-Marie, additional, Loesch, Douglas, additional, Inca-Martinez, Miguel, additional, Horimoto, Andrea R. V. R., additional, Cornejo-Olivas, Mario, additional, Torres, Luis, additional, Mazzetti, Pilar, additional, Cosentino, Carlos, additional, Sarapura-Castro, Elison, additional, Rivera-Valdivia, Andrea, additional, Dieguez, Elena, additional, Raggio, Victor, additional, Lescano, Andres, additional, Tumas, Vitor, additional, Borges, Vanderci, additional, Ferraz, Henrique B., additional, Rieder, Carlos R., additional, Schumacher-Schuh, Artur, additional, Santos-Lobato, Bruno L., additional, Velez-Pardo, Carlos, additional, Jimenez-Del-Rio, Marlene, additional, Lopera, Francisco, additional, Moreno, Sonia, additional, Chana-Cuevas, Pedro, additional, Fernandez, William, additional, Arboleda, Gonzalo, additional, Arboleda, Humberto, additional, Arboleda-Bustos, Carlos E., additional, Yearout, Dora, additional, Zabetian, Cyrus P., additional, Thornton, Timothy A., additional, O'Connor, Timothy D., additional, Lal, Dennis, additional, and F. Mata, Ignacio, additional more...
- Published
- 2020
- Full Text
- View/download PDF
27. Characterizing the Genetic Architecture of Parkinson's Disease in Latinos.
- Author
-
Loesch, Douglas P., Horimoto, Andrea R. V. R., Heilbron, Karl, Sarihan, Elif I., Inca‐Martinez, Miguel, Mason, Emily, Cornejo‐Olivas, Mario, Torres, Luis, Mazzetti, Pilar, Cosentino, Carlos, Sarapura‐Castro, Elison, Rivera‐Valdivia, Andrea, Medina, Angel C., Dieguez, Elena, Raggio, Victor, Lescano, Andres, Tumas, Vitor, Borges, Vanderci, Ferraz, Henrique B., and Rieder, Carlos R. more...
- Subjects
PARKINSON'S disease ,GENOME-wide association studies ,NATIVE Americans ,CHROMOSOMES - Abstract
Objective: This work was undertaken in order to identify Parkinson's disease (PD) risk variants in a Latino cohort, to describe the overlap in the genetic architecture of PD in Latinos compared to European‐ancestry subjects, and to increase the diversity in PD genome‐wide association (GWAS) data. Methods: We genotyped and imputed 1,497 PD cases and controls recruited from nine clinical sites across South America. We performed a GWAS using logistic mixed models; variants with a p‐value <1 × 10−5 were tested in a replication cohort of 1,234 self‐reported Latino PD cases and 439,522 Latino controls from 23andMe, Inc. We also performed an admixture mapping analysis where local ancestry blocks were tested for association with PD status. Results: One locus, SNCA, achieved genome‐wide significance (p‐value <5 × 10−8); rs356182 achieved genome‐wide significance in both the discovery and the replication cohorts (discovery, G allele: 1.58 OR, 95% CI 1.35–1.86, p‐value 2.48 × 10−8; 23andMe, G allele: 1.26 OR, 95% CI 1.16–1.37, p‐value 4.55 × 10−8). In our admixture mapping analysis, a locus on chromosome 14, containing the gene STXBP6, achieved significance in a joint test of ancestries and in the Native American single‐ancestry test (p‐value <5 × 10−5). A second locus on chromosome 6, containing the gene RPS6KA2, achieved significance in the African single‐ancestry test (p‐value <5 × 10−5). Interpretation: This study demonstrated the importance of the SNCA locus for the etiology of PD in Latinos. By leveraging the demographic history of our cohort via admixture mapping, we identified two potential PD risk loci that merit further study. ANN NEUROL 2021;90:353–365 [ABSTRACT FROM AUTHOR] more...
- Published
- 2021
- Full Text
- View/download PDF
28. Guillain–Barre syndrome outbreak in Peru: Association with polymorphisms in IL‐17, ICAM1, and CD1
- Author
-
Jaramillo‐Valverde, Luis, primary, Levano, Kelly S., additional, Villanueva, Isolina, additional, Hidalgo, Meylin, additional, Cornejo, Marco, additional, Mazzetti, Pilar, additional, Cornejo‐Olivas, Mario, additional, Sanchez, Cesar, additional, Poterico, Julio A., additional, Valdivia‐Silva, Julio, additional, and Guio, Heinner, additional more...
- Published
- 2019
- Full Text
- View/download PDF
29. Guillain-Barre syndrome outbreak in Peru: Association with polymorphisms in IL-17, ICAM-1 and CD1
- Author
-
Jaramillo-Valverde, Luis, primary, Levano, Kelly S, additional, Villanueva, Isolina, additional, Hidalgo, Meylin, additional, Cornejo, Marco, additional, Mazzetti, Pilar, additional, Cornejo-Olivas, Mario, additional, Sanchez, Cesar, additional, Poterico, Julio A, additional, Valdivia-Silva, Julio, additional, and Guio, Heinner, additional more...
- Published
- 2019
- Full Text
- View/download PDF
30. Neurogenetics in Peru, example of translational research
- Author
-
Mazzetti, Pilar, Inca-Martínez, Miguel, Tirado-Hurtado, Indira, Milla-Neyra, Karina, Silva-Paredes, Gustavo, Vishnevetsky, Anastasia, and Cornejo-Olivas, Mario
- Subjects
investigación traslacional ,lcsh:R5-920 ,Genotype ,lcsh:R ,lcsh:Medicine ,Translational research ,Neurology ,Genetics ,Investigación traslacional ,Neurología ,Genética ,genética ,neurología ,Translational Research, Biomedical ,Peru ,Humans ,Nervous System Diseases ,lcsh:Medicine (General) - Abstract
Neurogenetics is an emerging discipline in Peru that links basic research with clinical practice. The Neurogenetics Research Center located in Lima, Peru is the only unit dedicated to the specialized care of neurogenetic diseases in the country. From the beginning, neurogenetics research has been closely linked to the study of Huntington’s Disease (HD), from the PCRgenotyping of the HTT gene, to the current haplogroup studies in HD. Research in other monogenic diseases led to the implementation of alternative methodologies for the genotyping of Fragile X and Myotonic Dystrophy Type 1. Both, national and international collaborative efforts have facilitated the discovery of new genetic variants in complex multigenic diseasessuch as Parkinson’s disease and Alzheimer’s disease. Additionally, multidisciplinary education and mentoring have allowed for the training of new neurogenetics specialists, supporting the sustained growth of the discipline in the country. The promotion of research in Peru has spurred the growth of neurogenetics research, although limitations in infrastructure, technology, and education remain a challenge for the further growth of research in this field. La neurogenética es una disciplina emergente en el Perú que vincula la investigación básica con la práctica clínica. El Centro de Investigación Básica en Neurogenética, es el único centro en el Perú dedicado a la atención especializada de enfermedades neurogenéticas. La investigación en esta área está estrechamente ligada a la enfermedad de Huntington, desde la genotipificación del gen HTT por PCR, hasta los actuales estudios de haplogrupos en esta enfermedad. La investigación en otras enfermedades monogénicas permitió la implementación de metodologías alternativas para la genotipificación del síndrome X frágil y distrofia miotónica tipo 1. Esfuerzos colaborativos nacionales e internacionales han permitido conocer nuevas variantes genéticas en enfermedades complejas, como la enfermedad de Parkinson y Alzheimer. El entrenamiento multidisciplinario y la mentoría fomentan la formación de nuevos especialistas en neurogenética, permitiendo el crecimiento sostenido de esta disciplina en el país. El impulso de la investigación en el Perú ha impulsado el crecimiento de la investigación en neurogenética; sin embargo, las limitaciones en infraestructura, tecnología y capacitación aún son un reto para el crecimiento de investigación en esta disciplina. more...
- Published
- 2015
31. Genome‐Wide Analysis of Copy Number Variation in Latin American Parkinson's Disease Patients.
- Author
-
Sarihan, Elif Irem, Pérez‐Palma, Eduardo, Niestroj, Lisa‐Marie, Loesch, Douglas, Inca‐Martinez, Miguel, Horimoto, Andrea R.V.R., Cornejo‐Olivas, Mario, Torres, Luis, Mazzetti, Pilar, Cosentino, Carlos, Sarapura‐Castro, Elison, Rivera‐Valdivia, Andrea, Dieguez, Elena, Raggio, Victor, Lescano, Andres, Tumas, Vitor, Borges, Vanderci, Ferraz, Henrique B., Rieder, Carlos R., and Schumacher‐Schuh, Artur F. more...
- Abstract
Background: Parkinson's disease is the second most common neurodegenerative disorder and affects people from all ethnic backgrounds, yet little is known about the genetics of Parkinson's disease in non‐European populations. In addition, the overall identification of copy number variants at a genome‐wide level has been understudied in Parkinson's patients. The objective of this study was to understand the genome‐wide burden of copy number variants in Latinos and its association with Parkinson's disease. Methods: We used genome‐wide genotyping data from 747 Parkinson's disease patients and 632 controls from the Latin American Research Consortium on the Genetics of Parkinson's disease. Results: Genome‐wide copy number burden analysis showed that patients were significantly enriched for copy number variants overlapping known Parkinson's disease genes compared with controls (odds ratio, 3.97; 95%CI, 1.69–10.5; P = 0.018). PRKN showed the strongest copy number burden, with 20 copy number variant carriers. These patients presented an earlier age of disease onset compared with patients with other copy number variants (median age at onset, 31 vs 57 years, respectively; P = 7.46 × 10−7). Conclusions: We found that although overall genome‐wide copy number variant burden was not significantly different, Parkinson's disease patients were significantly enriched with copy number variants affecting known Parkinson's disease genes. We also identified that of 250 patients with early‐onset disease, 5.6% carried a copy number variant on PRKN in our cohort. Our study is the first to analyze genome‐wide copy number variant association in Latino Parkinson's disease patients and provides insights about this complex disease in this understudied population. © 2020 International Parkinson and Movement Disorder Society [ABSTRACT FROM AUTHOR] more...
- Published
- 2021
- Full Text
- View/download PDF
32. Genetic Analysis of Hereditary Ataxias in Peru Identifies SCA10 Families with Incomplete Penetrance.
- Author
-
Cornejo-Olivas, Mario, Inca-Martinez, Miguel, Castilhos, Raphael Machado, Furtado, Gabriel Vasata, Mattos, Eduardo Preusser, Bampi, Giovana Bavia, Leistner-Segal, Sandra, Marca, Victoria, Mazzetti, Pilar, Saraiva-Pereira, Maria Luiza, and Jardim, Laura Bannach more...
- Subjects
FRIEDREICH'S ataxia ,NUCLEAR families ,FAMILIES ,SPINOCEREBELLAR ataxia ,ATAXIA ,CEREBELLUM degeneration ,RECESSIVE genes - Abstract
Relative frequency of hereditary ataxias remains unknown in many regions of Latin America. We described the relative frequency in spinocerebellar ataxias (SCA) due to (CAG)n and to (ATTCT)n expansions, as well as Friedreich ataxia (FRDA), among cases series of ataxic individuals from Peru. Among ataxic index cases from 104 families (38 of them with and 66 without autosomal dominant pattern of inheritance), we identified 22 SCA10, 8 SCA2, 3 SCA6, 2 SCA3, 2 SCA7, 1 SCA1, and 9 FRDA cases (or families). SCA10 was by far the most frequent one. Findings in SCA10 and FRDA families were of note. Affected genitors were not detected in 7 out of 22 SCA10 nuclear families; then overall maximal penetrance of SCA10 was estimated as 85%; in multiplex families, penetrance was 94%. Two out of nine FRDA cases carried only one allele with a GAA expansion. SCA10 was the most frequent hereditary ataxia in Peru. Our data suggested that ATTCT expansions at ATXN10 might not be fully penetrant and/or instability between generations might frequently cross the limits between non-penetrant and penetrant lengths. A unique distribution of inherited ataxias in Peru requires specific screening panels, considering SCA10 as first line of local diagnosis guidelines. [ABSTRACT FROM AUTHOR] more...
- Published
- 2020
- Full Text
- View/download PDF
33. Genetics and genomics in Peru: Clinical and research perspective
- Author
-
Guio, Heinner, primary, Poterico, Julio A., additional, Levano, Kelly S., additional, Cornejo-Olivas, Mario, additional, Mazzetti, Pilar, additional, Manassero-Morales, Gioconda, additional, Ugarte-Gil, Manuel F., additional, Acevedo-Vásquez, Eduardo, additional, Dueñas-Roque, Milagros, additional, Piscoya, Alejandro, additional, Fujita, Ricardo, additional, Sanchez, Cesar, additional, Casavilca-Zambrano, Sandro, additional, Jaramillo-Valverde, Luis, additional, Sullcahuaman-Allende, Yasser, additional, Iglesias-Pedraz, Juan M., additional, and Abarca-Barriga, Hugo, additional more...
- Published
- 2018
- Full Text
- View/download PDF
34. Proximal Motor Sensory Hereditary Neuropathy (HMSN-P) in a Peruvian Family with Japanese Ancestry (P2.452)
- Author
-
Sarapura-Castro, Elison, primary, Quispe, Darko, additional, Illanes-Manrique, Maryenela, additional, Milla-Neyra, Karina, additional, Inca-Martinez, Miguel, additional, Figueroa-Ildefonso, Erick, additional, Marca, Victoria, additional, Takashima, Hiroshi, additional, Mazzetti, Pilar, additional, and Cornejo-Olivas, Mario, additional more...
- Published
- 2018
- Full Text
- View/download PDF
35. Ausencia de la mutación A53T del gen SNCA en una muestra de pacientes con Enfermedad de Parkinson en el Perú
- Author
-
Milla-Neyra, Karina, primary, Erick Figueroa-Ildefonso, Erick Figueroa-Ildefonso, primary, Marca, Victoria, primary, Ortega, Olimpio, primary, Inca-Martinez, Miguel, primary, Sarapura-Castro, Elison, primary, Torres, Luis, primary, Cosentino, Carlos, primary, Illanes-Manrique, Maryenela, primary, Mazzetti, Pilar, primary, and Cornejo-Olivas, Mario, primary more...
- Published
- 2018
- Full Text
- View/download PDF
36. Homocystinuria, a metabolic disease of late diagnosis in Peru
- Author
-
Cornejo-Olivas, Mario R, Chávez-Pasco, Vilma G, Inca-Martínez, Miguel A, Véliz-Otani, Diego M, Mora-Alférez, Anali P, Velit-Salazar, Mario R, Sánchez-Boluarte, Arantxa, Quiroga de Michelena, Maria, and Mazzetti, Pilar more...
- Subjects
Enfermedades metabólicas ,Perú ,Peru ,hábito marfanoide ,metabolic disorders ,Homocystinuria ,marphanoid habitus ,delayed diagnosis ,diagnóstico tardío ,homocistinuria - Abstract
La Homocistinuria, es un desorden metabólico autosómico recesivo, cuya forma clásica es causada por deficiencia de cistationina β-sintasa, debido a mutaciones en el gen CBS (Cr21q22.3). Se describe el caso de un varón de 17 años con hipopigmentación de piel y faneras, retraso psicomotor moderado, hábito marfanoide, miopía severa, subluxación del cristalino bilateral, que además presentóeventos psicóticos y una hemiparesia izquierda secundaria a un infartolacunar. La determinación de homocisteína en plasma se encontró elevada (>9,9mg/dl), así como niveles altos denitroprusiato de sodio en orina(4+)que confirmaron el diagnóstico clínico de homocistinuria. La homocistinuria clásica genera múltiples complicaciones a nivel dérmico, oftalmológico, cognitivo, osteoarticular y psiquiátrico; que podrían evitarse con un diagnóstico y tratamiento oportuno a través del tamizaje neonatal, aún no disponible en la mayoría de centros asistenciales en el Perú. Homocystinuria is an autosomal-recessive metabolic disorder whose classical phenotype is caused by a deficiency of cystathionine β-synthase, dueto mutations within the CBS gene(Cr21q22.3). Here in we report a 17 years old man with hypopigmented skin and hair, mental retardation, marfanoid habitus, severe myopia, bilateral lens subluxation, psychotic episodes, and left-sided hemiparesis secondary to alacunar brain infarction. Laboratory tests showed increased levels of homocysteine (>9.9mg/dl) in plasma and high levels of urinary sodium nitroprusside (4+), consistent with the clinical diagnosis of classical homocystinuria. This systemic disorder includes dermal, ophthalmic, cognitive, osteoarticular and psychiatric alterations, all of which could be potentially prevented with early diagnosis and therapy as part of new born screening, which is still unavailable in Peru. more...
- Published
- 2015
37. Clinical and molecular studies reveal a PSEN1 mutation (L153V) in a Peruvian family with early-onset Alzheimer's disease
- Author
-
Cornejo-Olivas, Mario R., Yu, Chang-En, Mazzetti, Pilar, Mata, Ignacio F., Meza, Maria, Lindo-Samanamud, Saul, Leverenz, James B., and Bird, Thomas D.
- Published
- 2014
- Full Text
- View/download PDF
38. Neurogenetics: where are we going?
- Author
-
Mazzetti, Pilar
- Published
- 2014
39. Enfermedad de Kennedy en el Perú: primeros casos con diagnóstico molecular
- Author
-
Gómez-Calero, Víctor, Cornejo-Olivas, Mario, Ortega, Olimpio, Marca, Victoria, Lindo-Samanamud, Saúl, Flores, Martha, Torres-Ramírez, Luis, and Mazzetti, Pilar
- Subjects
Atrofia bulboespinal ligada al X ,Receptores androgénicos ,Enfermedades genéticas ligadas al cromosoma X ,Bulbo-spinal atrophy, X-linked ,Receptors, androgen ,Genetic diseases, X-linked - Abstract
Kennedy’s disease is an X-linked recessive disorder with onset in adulthood, characterized by progressive degeneration of spinal motor neurons due to a dynamic mutation in the androgen receptor gene. We report three families (five cases) characterized by progressive weakness involving both limbs and bulbar muscles, atrophy, tremor, cramps and endocrinologic disturbances; the neurophysiological studies demonstrated second motor neuron impairment. The molecular analysis identified abnormal CAG repeats expansion in the androgen receptor gene (AR) in all cases. Clinical features were consistent with other previous reports. These are the first Peruvian cases of Kennedy ́s disease with confirmed molecular diagnosis. La enfermedad de Kennedy es un trastorno neurodegenerativo de herencia recesiva ligada al cromosoma X, de inicio en la adultez, caracterizado por degeneración progresiva de las neuronas motoras espinales, debido a una mutación dinámica del gen del receptor de andrógeno. Se presentan tres familias (cinco casos) con temblor, calambres, debilidad muscular generalizada lentamente progresiva con atrofia, afectación de músculos bulbares y alteraciones endocrinas. El estudio neurofisiológico demostró compromiso de segunda motoneurona. El análisis molecular mostró una expansión anormal de tripletes citosina-adenina-guanina en el gen de receptor de andrógeno en todos los casos. Todos los pacientes cursaron con una presentación clínica típica de la enfermedad siendo los primeros casos de enfermedad de Kennedy con diagnóstico molecular realizado en el Perú. more...
- Published
- 2014
40. Rol del estado en los ensayos clínicos
- Author
-
Mazzetti, Pilar, Silva-Paredes, Gustavo, and Cornejo-Olivas, Mario
- Subjects
Ensayos clínicos aleatorios ,Políticas públicas de salud ,Regulación y fiscalización en salud ,Clinical trials, randomized ,Health public policy ,Health care coordination and monitoring - Abstract
The regulation of clinical trials by the Government is a process of continuous change and adaptation, current challenge is to ensure the safety of participants and get balance of administrative procedures. Development and regulation of clinical trials in different countries vary according to the situation, context national or international execution, determining the insufficiency of national regulation requiring review of international regulation. The aim of this publication is to present a comprehensive overview of the role of Government in the regulation of clinical trials in different realities. It includes a review of the regulation in The European Union, The United States and some Latin American countries and finally the regulation in Peru. Contemporary trends in the regulation of clinical trials, are characterized by increasing standards of quality, ensuring the safety of the participants, promote transparency, lower bureaucratic processes and strengthening ethics IRB committees in the framework of open democratic processes, involving all stakeholders in dynamic processes based on current knowledge and changing tendencies. The challenge is to promote the development of clinical trials from the government institutions (universities, research centers, institutes, hospitals, etc.) priorizing local needs including orphan drugs, prevalent and neglected diseases, and therapeutic use of active components of local native plants. La regulación de los ensayos clínicos por el Estado es un proceso en constante cambio y adecuación, cuyo reto actual consiste en salvaguardar la seguridad de los participantes y equilibrar la carga administrativa. El desarrollo y la regulación de los ensayos clínicos en los distintos países varían según la realidad, el contexto, su ejecución nacional o multinacional, condicionando que la regulación puramente nacional resulte insuficiente y se precise conocer parte de la regulación internacional. El objetivo de esta publicación es mostrar una visión global del rol de Estado en la regulación de los ensayos clínicos en distintas realidades. Para ello, se ha realizado una revisión de la regulación en la Unión Europea, Estados Unidos de Norteamérica y algunos países de Latinoamérica, para llegar finalmente al Perú. La tendencia actual en la regulación de los ensayos clínicos, se caracteriza por el incremento en los estándares de calidad, el garantizar la seguridad de los participantes, promover la transparencia, la disminución de los procesos burocráticos y el fortalecimiento de los comités de ética, en el marco de procesos democráticos abiertos, que convoquen e integren a todos los interesados en procesos dinámicos basados en el conocimiento actual y los cambios que se suceden. El reto actual es promover el desarrollo de ensayos clínicos desde el Estado (universidades, centros de investigación, institutos especializados, hospitales, etc.) para los aspectos que el país necesita, incluidos medicamentos huérfanos, enfermedades prevalentes y abandonadas, y el uso terapéutico de los principios activos originarios. more...
- Published
- 2014
41. The targetable A1 Huntington disease haplotype has distinct Amerindian and European origins in Latin America
- Author
-
Kay, Chris, primary, Tirado-Hurtado, Indira, additional, Cornejo-Olivas, Mario, additional, Collins, Jennifer A, additional, Wright, Galen, additional, Inca-Martinez, Miguel, additional, Veliz-Otani, Diego, additional, Ketelaar, Maria E, additional, Slama, Ramy A, additional, Ross, Colin J, additional, Mazzetti, Pilar, additional, and Hayden, Michael R, additional more...
- Published
- 2016
- Full Text
- View/download PDF
42. Polimorfismo genético de la apolipoproteína E en una población peruana
- Author
-
Marca, Victoria, Acosta, Oscar, Cornejo-Olivas, Mario, Ortega, Olimpio, Huerta, Doris, and Mazzetti, Pilar
- Subjects
Alelos ,Apolipoproteínas E ,Frecuencia de los genes ,Alleles ,Apolipoproteins E ,Gene frequency - Abstract
Objectives. To determine the allelic and genotypic frequencies of the APOE gene in a sample of a population group in Peru. Materials and methods. Cross-sectional analytic study in 189 apparently healthy volunteers, workers of the Instituto Nacional de Ciencias Neurológicas in Lima, Perú, divided into 5 groups by birth department and two generations ancestry. Genomic DNA was amplified using PCR-RFLP. The resulting fragments were detected by 12 % polyacrylamide gel electrophoresis. Results. The Ɛ3 allele is the most frequent in all the groups (93.9 %), with low Ɛ4 (5 %) and Ɛ2 (1.1 %) allele frequencies. The analysis of heterozygosity (H) for each group displays intermediate diversity between 10 and 20%. Population genetic diversity (Ht) and diversity within populations (Hs) are 14.43 % and 14.31% respectively, suggesting genetic proximity between the studied groups for the ApoE polymorphism. Conclusions. Allele frequencies of the ApoE gene found show that allele Ɛ3 has one of the highest frequencies and Ɛ4 allele one of the lowest compared to other population groups in the world, with possible implications in the risk of neurological, cardiovascular and other diseases in our country. Objetivos. Determinar las frecuencias genotípicas y alélicas del gen APOE en una muestra poblacional peruana. Materiales y métodos. Estudio transversal analítico en 189 trabajadores voluntarios, aparentemente sanos, del Instituto Nacional de Ciencias Neurológicas en Lima, Perú, divididos en cinco grupos según departamento de origen y ascendencia en dos generaciones. El ADN genómico fue amplificado mediante PCR-RFLP. Se realizó la detección de los fragmentos resultantes por electroforesis en gel de poliacrilamida al 12 %. Resultados. El alelo Ɛ3 es el más frecuente en todos los grupos (93,9 %), con bajas frecuencias de los alelos Ɛ4 (5 %) y Ɛ2 (1,1 %). El análisis de heterocigosidad (H) en cada grupo muestra una diversidad intermedia entre 10 y 20 %. Las diversidades genéticas poblacional (Ht) e intrapoblacional (Hs), son 14,4 y 14,3 % respectivamente, sugiriendo proximidad genética entre los grupos estudiados para el polimorfismo ApoE. Conclusiones. Las frecuencias alélicas del gen ApoE encontradas muestra que el alelo Ɛ3 tiene una de las frecuencias más altas y, el alelo Ɛ4, una de las más bajas respecto a otros grupos poblacionales del mundo, con posibles implicancias en el riesgo para enfermedades neurológicas, cardiovasculares y otras en nuestro país. more...
- Published
- 2014
43. Asociación entre el polimorfismo genético de la apolipoproteína E (ApoE) y la enfermedad de Parkinson
- Author
-
Marca, Victoria, Acosta, Oscar, Torres, Luis, Ortega, Olimpio, Cornejo-Olivas, Mario, Lindo-Samanamud, Saúl, Huerta, Doris, Cosentino, Carlos, Núñez, Oscar, and Mazzetti, Pilar
- Subjects
apolipoproteína E ,alelos ,Enfermedad de Parkinson ,Parkinson's disease ,alleles ,lipids (amino acids, peptides, and proteins) ,apolipoprotein E - Abstract
Due to the increase in life expectancy in our country, it is necessary to study risk factors for Parkinson’s disease (PD), including apolipoprotein E (ApoE) gene, as this association is not known in our country. Objectives: To determine association of ApoE gene polymorphism and PD. Design: Associative, observational case-control analytic study. Setting: Instituto Nacional de Ciencias Neurologicas, Lima, Peru. Participants: Male and females with and without Parkinson's disease. Interventions: Genomic DNA was extracted from 163 patients and 176 controls. PCR_RFLP technique was used for ApoE gene genotyping. Main outcome measures: ApoE gene genotype and allele frequencies in cases and controls, association and risk. Results: No significant ApoE genotype differences between the control group and patients were found. Allele ε4 frequency was similar in patients and controls: 6.5 and 6.0. Odds ratio for ApoE ε4 allele associated with PD was 1.2163 (IC 95%, 0.6574-2.2507). Conclusions: ApoE ε4 allele could not be considered a risk factor for PD in the population studied., En nuestro país, con el incremento en la esperanza de vida, existe una tendencia creciente de enfermedades neurodegenerativas, por lo que se hace necesario realizar estudios sobre factores de riesgo genético en personas afectadas con la enfermedad de Parkinson (EP), entre ellos el gen de la apolipoproteína E (ApoE), ya que esta asociación es desconocida en nuestra población. Objetivo: Determinar la asociación del polimorfismo en el gen ApoE con la EP. Diseño: Estudio asociativo, observacional tipo casos y controles. Lugar: Instituto Nacional de Ciencias Neurológicas, Lima, Perú. Participantes: Personas de ambos sexos, 163 pacientes con la EP y 176 controles. Intervenciones: Extracción de ADN genómico según metodología estándar. Análisis del gen APOE mediante técnica PCR-RFLP. Principales medidas de resultados: Frecuencias genotípicas y alélicas del gen ApoE en los casos y controles, medidas de asociación y de riesgo. Resultados: No se encontró diferencias significativas entre el grupo control y los pacientes según genotipo de ApoE. La frecuencia del alelo ε4 fue similar en pacientes y en controles. El odds ratio para el alelo ε4 de la ApoE fue 1,0852 (IC 95%: 0,5812 a 2,0266). La edad de inicio de la EP no tuvo relación con los genotipos ApoE. Conclusiones: El alelo ε4 de la ApoE no podría ser considerado un factor de riesgo para la EP, y los genotipos de la ApoE no se asociaron con la edad de inicio en esta muestra evaluada. more...
- Published
- 2013
44. Kennedy disease in Peru: First cases with molecular diagnosis
- Author
-
Gómez-Calero, Víctor, Cornejo-Olivas, Mario, Ortega, Olimpio, Marca, Victoria, Lindo-Samanamud, Saúl, Flores, Martha, Torres-Ramírez, Luis, and Mazzetti, Pilar
- Subjects
Bulbo-spinal atrophy ,X-linked ,Atrofia bulboespinal ligada al X ,Receptores androgénicos ,Enfermedades genéticas ligadas al cromosoma X ,Receptors, androgen ,Genetic diseases, X-linked - Abstract
La enfermedad de Kennedy es un trastorno neurodegenerativo de herencia recesiva ligada al cromosoma X, de inicio en la adultez, caracterizado por degeneración progresiva de las neuronas motoras espinales, debido a una mutación dinámica del gen del receptor de andrógeno. Se presentan tres familias (cinco casos) con temblor, calambres, debilidad muscular generalizada lentamente progresiva con atrofia, afectación de músculos bulbares y alteraciones endocrinas. El estudio neurofisiológico demostró compromiso de segunda motoneurona. El análisis molecular mostró una expansión anormal de tripletes citosina-adenina-guanina en el gen de receptor de andrógeno en todos los casos. Todos los pacientes cursaron con una presentación clínica típica de la enfermedad siendo los primeros casos de enfermedad de Kennedy con diagnóstico molecular realizado en el Perú. Kennedy’s disease is an X-linked recessive disorder with onset in adulthood, characterized by progressive degeneration of spinal motor neurons due to a dynamic mutation in the androgen receptor gene. We report three families (five cases) characterized by progressive weakness involving both limbs and bulbar muscles, atrophy, tremor, cramps and endocrinologic disturbances; the neurophysiological studies demonstrated second motor neuron impairment. The molecular analysis identified abnormal CAG repeats expansion in the androgen receptor gene (AR) in all cases. Clinical features were consistent with other previous reports. These are the first Peruvian cases of Kennedy´s disease with confirmed molecular diagnosis. more...
- Published
- 2013
45. Small vulnerable newborns: the urgent need of strong actions in Peru and the entire Latin America
- Author
-
Huicho, Luis, Vidal-Cardenas, Elisa, Haapaniemi, Tiia, Ashorn, Per, Aguero, Lourdes, Alayo, Erasmo, Albán, Wendy, Altobelli, Laura, Ambulay, Rosa, Arnillas, Federico, Arósquipa, Carlos, Ashorn, Per, Haapaniemi, Tiia, Bautista, Rossana, Bellomo, Sicilia, Blas, Magaly, Butrón, Betzabé, Arredondo, Henry Cabrera, Calle, María del Carmen, Cam, Luis, Carrasco, Amyela, Castañeda, Enrique, Espinoza, Elizabeth Castillo, Chiang, Marilu, Chu, Felipe, Conde, Gabriela, Cordero, Luis, Cortez, Carla, Diaz, Lilian Cuba, de María Pilar Curi Tito, Flor, Dávila, Miguel, Delgado, Carlos, Fano, Diego, MaríaFernandez, Sierra, Carmen Fernández, Flores, Yenka, Galdos, Jorge, Gonzales, Gustavo, Gonzales, Carla, Gonzalez Diaz, Jaime Genaro, Guzmán Alvarez, Eberth Javier, Haapaniemi, Herbozo, Cecilia, Hinojosa, Rosmery, Huamaní, Nelly Huamaní, Huayanay, Carlos, Huicho, Lidya, Huicho, Luis, Huertas Fuentes, Mirtha Elena, Muñoz, Ofelia León, Velarde, Fabiola León, Luna, Ariela, Mazzetti, Pilar, Mercado, Nelly, Olivera, Mauro Meza, Huertas, Ronald Monasterio, Mujica, Oscar, Munayco, Cesar, Niño de Guzman, Jessica, Olivareas, Lucysancy, Nishikawa, Julio, Oriundo, Guillermo, Panta, Magali Ortiz, Pajuelo, Monica, Pardo, Karim, Tarqui, Tania Pariona, Peña, Ricardo, Pessah, Silvia, Quezada, Hugo, Rado, Sandra, Repo, Ritva, Reyes, Mary, Toro, Rosa Rodriguez, Lopez, Soleda Ruiz, Salcedo, Celina, Saly Rosas Solano, José Luis, Samamé, Teresa, Sanchez, Laura, Sánchez Griñan, Maria Inés, Sánchez Tonohuye, Julio César, Shimabuku, Roberto, Alvarado, Paul Soplin, Salazar, Mario Tavera, Ugaz, María Elena, Urtecho Vera, Florencia Amada, Morales, Rodrigo Valladares, Bejar, Constanza Vallenas, Vargas-Machuca, Jeannette Avila, Vega, Sarah María, Velasquez, Pablo, Velasquez, José Enrique, Víctora, Cesar G., Vidal, Elisa, Vila, Taissa, Villalta, Marianela, Villar, Amelia, Montesinos, Eugenio Villar, Villareal, Edith, Zamora, Victor, and Zuazo, Brizza more...
- Published
- 2024
- Full Text
- View/download PDF
46. Homocistinuria, una enfermedad metabólica de diagnóstico tardío en el Perú.
- Author
-
Cornejo-Olivas, Mario R., primary, Chávez-Pasco, Vilma G., additional, Inca-Martínez, Miguel A., additional, Véliz-Otani, Diego M., additional, Mora-Alférez, Anali P., additional, Velit-Salazar, Mario R., additional, Sánchez-Boluarte, Arantxa, additional, Quiroga de Michelena, Maria, additional, and Mazzetti, Pilar, additional more...
- Published
- 2015
- Full Text
- View/download PDF
47. Neurogenética en el Perú, ejemplo de investigación traslacional
- Author
-
Mazzetti, Pilar, primary, Inca-Martínez, Miguel, additional, Tirado-Hurtado, Indira, additional, Milla-Neyra, Karina, additional, Silva-Paredes, Gustavo, additional, Vishnevetsky, Anastasia, additional, and Cornejo-Olivas, Mario, additional more...
- Published
- 2015
- Full Text
- View/download PDF
48. Lrrk2 p.Q1111H substitution and Parkinson’s disease in Latin America
- Author
-
Mata, Ignacio F., Wilhoite, Greggory J., Yearout, Dora, Bacon, Justin A., Cornejo-Olivas, Mario, Mazzetti, Pilar, Marca, Victoria, Ortega, Olimpio, Acosta, Oscar, Cosentino, Carlos, Torres, Luis, Medina, Angel C., Perez-Pastene, Carolina, Díaz-Grez, Fernando, Vilariño-Güell, Carles, Venegas, Pablo, Miranda, Marcelo, Trujillo-Godoy, Osvaldo, Layson, Luis, Avello, Rodrigo, Dieguez, Elena, Raggio, Victor, Micheli, Federico, Perandones, Claudia, Alvarez, Victoria, Segura-Aguilar, Juan, Farrer, Matthew J., Zabetian, Cyrus P., and Ross, Owen A. more...
- Published
- 2011
- Full Text
- View/download PDF
49. Clinical and Molecular Features of Late Onset Huntington Disease in a Peruvian Cohort
- Author
-
Cornejo-Olivas, Mario R., primary, Inca-Martinez, Miguel A., additional, Espinoza-Huertas, Keren, additional, Veliz-Otani, Diego, additional, Velit-Salazar, Mario R., additional, Marca, Victoria, additional, Ortega, Olimpio, additional, Cornejo-Herrera, Ivan F., additional, Lindo-Samanamud, Saul, additional, Mora-Alferez, Pamela, additional, and Mazzetti, Pilar, additional more...
- Published
- 2015
- Full Text
- View/download PDF
50. Neurogenética, ¿a dónde nos lleva?
- Author
-
Mazzetti, Pilar, primary
- Published
- 2014
- Full Text
- View/download PDF
Discovery Service for Jio Institute Digital Library
For full access to our library's resources, please sign in.