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1. The neurobiology of openness as a personality trait.

Author

Abu Raya, Maison, Ogunyemi, Adedoyin, Broder, Jake, Carstensen, Veronica, Illanes-Manrique, Maryenela, and Rankin, Katherine

Subjects
Big Five model of personality, cognitive flexibiliity, dogmatism, neurobiology, openness
Abstract

Openness is a multifaceted behavioral disposition that encompasses personal, interpersonal, and cultural dimensions. It has been suggested that the interindividual variability in openness as a personality trait is influenced by various environmental and genetic factors, as well as differences in brain functional and structural connectivity patterns along with their various associated cognitive processes. Alterations in degree of openness have been linked to several aspects of health and disease, being impacted by both physical and mental health, substance use, and neurologic conditions. This review aims to explore the current state of knowledge describing the neurobiological basis of openness and how individual differences in openness can manifest in brain health and disease.

Published
2023

2. The reciprocal relationship between openness and creativity: from neurobiology to multicultural environments.

Author

Abu Raya, Maison, Ogunyemi, Adedoyin, Rojas Carstensen, Veronica, Broder, Jake, Illanes-Manrique, Maryenela, and Rankin, Katherine

Subjects
creativity, default mode network (DMN), executive control network (ECN), multicultural environment, openness to diversity, salience network (SN)
Abstract

The desire for novelty and variety in experiences, which may manifest in an inclination to engage with individuals from a diverse range of cultural backgrounds, collectively constitutes the personality dimension known as Openness to Experience. Empirical research has identified a positive correlation between trait openness and various expressions of creativity, such as divergent ideation, innovative problem-solving strategies, and cumulative creative accomplishments. This nexus between openness to interpersonal diversity, as an aspect of the larger personality trait of openness, and creativity has precipitated considerable scholarly interest across the disciplines of personality, social and organizational psychology, and neuroscientific investigation. In this paper, we review the neurobehavioral properties, including the cognitive processes and neural mechanisms, that connect these two constructs. Further, we explore how culture influences levels of openness and creativity in individuals and consider how creativity predisposes individuals toward openness to a plethora of experiences, including those occurring in culturally diverse contexts. This reciprocal entanglement of creativity and openness has been shown to foster a reduction in biases, augment conflict resolution capabilities, and generally yield superior outcomes in multicultural environments.

Published
2023

3. Machado Joseph-Disease Is Rare in the Peruvian Population

Author

Cornejo-Olivas, Mario, Solis-Ponce, Lesly, Araujo-Aliaga, Ismael, Milla-Neyra, Karina, Ortega, Olimpio, Illanes-Manrique, Maryenela, Mazzetti, Pilar, Manrique-Enciso, Carla, Cubas-Montecino, Diana, Saraiva-Pereira, Maria Luiza, Jardim, Laura B., and Sarapura-Castro, Elison

Published
2023
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4. The Border Zone Between bvFTD and Primary Psychiatric Disorders

Author

Raya, Maison Abu, Illanes-Manrique, Maryenela, and Miller, Bruce

Subjects
Alzheimer's disease -- Development and progression, Neural networks, Mental illness -- Development and progression, Neural network, Health, Psychology and mental health
Abstract

Frontotemporal lobar degeneration (FTLD) is a clinicopathological term that encompasses a spectrum of several overlapping syndromes associated with a specific set of non-Alzheimer disease (AD) neurodegenerative histopathologies that includes the [...]

Published
2023

5. Advancements in dementia research, diagnostics, and care in Latin America: Highlights from the 2023 Alzheimer's Association International conference satellite symposium in Mexico City

Author

Sosa, Ana Luisa, primary, Brucki, Sonia MD, additional, Crivelli, Lucia, additional, Lopera, Francisco Javier, additional, Acosta, Daisy M, additional, Acosta‐Uribe, Juliana, additional, Aguilar, Diego, additional, Aguilar‐Navarro, Sara G, additional, Allegri, Ricardo F, additional, Bertolucci, Paulo HF, additional, Calandri, Ismael L, additional, Carrillo, Maria C, additional, Mendez, Patricio Alexis Chrem, additional, Cornejo‐Olivas, Mario, additional, Custodio, Nilton, additional, Damian, Andrés, additional, de Souza, Leonardo Cruz, additional, Duran‐Aniotz, Claudia, additional, García, Adolfo M, additional, García‐Peña, Carmen, additional, Gonzales, Mitzi M, additional, Grinberg, Lea T, additional, Ibanez, Agustin M, additional, Illanes‐Manrique, Maryenela Zaida, additional, Jack, Clifford R, additional, Leon‐Salas, Jorge Mario, additional, Llibre‐Guerra, Jorge J, additional, Luna‐Muñoz, José, additional, Matallana, Diana, additional, Miller, Bruce L, additional, Naci, Lorina, additional, Parra, Mario A, additional, Pericak‐Vance, Margaret, additional, Piña‐Escudero, Stefanie D, additional, França Resende, Elisa de Paula, additional, Ringman, John M, additional, Sevlever, Gustavo, additional, Slachevsky, Andrea, additional, Suemoto, Claudia Kimie, additional, Valcour, Victor, additional, Villegas‐Lanau, Andres, additional, Yassuda, Mônica S, additional, Mahinrad, Simin, additional, and Sexton, Claire, additional

Published
2024
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6. Generalizability of Tau and Amyloid Plasma Biomarkers in Alzheimer's Disease Cohorts of Diverse Genetic Ancestries

Author

Griswold, Anthony J, primary, Rajabli, Farid, additional, Gu, Tianjie, additional, Arvizu, Jamie, additional, Golightly, Charles, additional, Whitehead, Patrice G, additional, Hamilton-Nelson, Kara L, additional, Adams, Larry D, additional, Sanchez, Jose Javier, additional, Mena, Pedro, additional, Starks, Takiyah D, additional, Illanes-Manrique, Maryenela, additional, Silva, Concepcion, additional, Bush, William, additional, Cuccaro, Michael L, additional, Vance, Jeffery M, additional, Cornejo-Olivas, Mario, additional, Feliciano, Briseida, additional, Byrd, Goldie, additional, Beecham, Gary, additional, Haines, Jonathan, additional, and Pericak-Vance, Margaret A, additional

Published
2024
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8. Novel Stop-gain SORL1 Mutation in a Peruvian Family with Alzheimer’s Disease of the PeADI Study (P6-9.017)

Author

Olivas, Mario Cornejo, primary, Griswold, Anthony J., additional, Saldarriaga-Mayo, Ana, additional, Mena, Pedro, additional, Rodriguez, Richard, additional, Adams, Larry, additional, Whitehead, Patrice, additional, Isasi, Rosario, additional, Illanes-Manrique, Maryenela, additional, Sarapura-Castro, Elison, additional, Rajabli, Farid, additional, McInerney, Katalina, additional, Milla-Neyra, Karina, additional, Enciso, Carla Manrique, additional, Beecham, Gary, additional, Castro-Suarez, Sheila, additional, St. George-Hyslop, Peter, additional, Araujo-Aliaga, Ismael, additional, Cuccaro, Michael L., additional, Vance, Jeffery, additional, and Pericak-Vance, Margaret, additional

Published
2024
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9. Tau and Amyloid Plasma Biomarker Analysis in Alzheimer’s Disease Cohorts from Diverse Genetic Ancestries

Author

Griswold, Anthony J., primary, Rajabli, Farid, additional, Gu, Tianjie, additional, Garcia‐Serje, Catherine, additional, Arvizu, Jamie, additional, Golightly, Charles G., additional, Whitehead, Patrice, additional, Hamilton‐Nelson, Kara L., additional, Adams, Larry D., additional, Celis, Katrina, additional, Sanchez, Jose Javier, additional, Tejada, Sergio J., additional, Mena, Pedro R., additional, Starks, Takiyah D., additional, Cornejo‐Olivas, Mario, additional, Illanes‐Manrique, Maryenela Z, additional, Silva‐Vergara, Concepcion, additional, Cuccaro, Michael L., additional, Vance, Jeffery M., additional, Feliciano‐Astacio, Briseida E., additional, Byrd, Goldie S., additional, Beecham, Gary W., additional, Haines, Jonathan L., additional, and Pericak‐Vance, Margaret A., additional

Published
2023
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10. Impact of COVID‐19 in cognitively unimpaired individuals and dementia caregivers from the Peruvian Alzheimer Disease Initiative (PeADI)

Author

Illanes‐Manrique, Maryenela, primary, Mena, Pedro R., additional, Cubas‐Montecino, Diana, additional, Adams, Larry D., additional, Sarapura‐Castro, Elison, additional, Castro‐Suarez, Sheila, additional, Rios‐Pinto, Julia, additional, Mejía, Koni K., additional, Medina‐Colque, Angel, additional, Beecham, Gary W., additional, Cornejo‐Herrera, Ivan, additional, Vance, Jeffery M., additional, Ochoa‐Valle, Edward, additional, Cuccaro, Michael L., additional, Cornejo‐Olivas, Mario, additional, and Pericak‐Vance, Margaret A., additional

Published
2023
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11. Deciphering the Genomic Regulatory Architecture of iPSC Derived Oligodendrocytes from Diverse Ancestries for Alzheimer’s Disease Studies

Author

Ramirez, Aura M, primary, Shepherd, Jihanne J, additional, Coombs, Lauren, additional, Simon, Shaina A., additional, Moura, Sofia, additional, Rajabli, Farid, additional, DeRosa, Brooke A., additional, Muniz, Maria, additional, Whitehead, Patrice, additional, Adams, Larry D., additional, Mena, Pedro R., additional, Illanes‐Manrique, Maryenela Z, additional, Starks, Takiyah D., additional, Tejada, Sergio J., additional, Byrd, Goldie S., additional, Cornejo‐Olivas, Mario, additional, Feliciano‐Astacio, Briseida E., additional, Rissman, Robert A, additional, Wang, Liyong, additional, Xu, Wanying, additional, Jin, Fulai, additional, Griswold, Anthony J., additional, Young, Juan I., additional, Dykxhoorn, Derek M., additional, and Vance, Jeffery M., additional

Published
2023
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15. The Peruvian Alzheimer Disease Initiative (PeADI): An international effort model to increase diversity in AD research (S15.002)

Author

Illanes-Manrique, Maryenela, primary, Mena, Pedro, additional, Milla-Neyra, Karina, additional, Adams, Larry, additional, Mejia, Koni, additional, Rios-Pinto, Julia, additional, Isasi, Rosario, additional, Medina-Colque, Angel, additional, Beecham, Gary, additional, Cornejo-Herrera, Ivan, additional, Vance, Jeffery, additional, Ochoa-Valle, Edward, additional, Castro-Suarez, Sheila, additional, Cuccaro, Michael L., additional, Sarapura-Castro, Elison, additional, Cubas-Montecino, Diana, additional, Olivas, Mario Cornejo, additional, and Pericak-Vance, Margaret, additional

Published
2023
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16. The reciprocal relationship between openness and creativity: from neurobiology to multicultural environments.

Author

Raya, Maison Abu, Ogunyemi, Adedoyin O., Carstensen, Veronica Rojas, Broder, Jake, Illanes-Manrique, Maryenela, and Rankin, Katherine P.

Subjects
SOCIAL psychology, PERSONALITY, CREATIVE ability, OPENNESS to experience, INDUSTRIAL psychology, CONFLICT management, DEFAULT mode network
Abstract

The desire for novelty and variety in experiences, which may manifest in an inclination to engage with individuals from a diverse range of cultural backgrounds, collectively constitutes the personality dimension known as "Openness to Experience." Empirical research has identified a positive correlation between trait openness and various expressions of creativity, such as divergent ideation, innovative problem-solving strategies, and cumulative creative accomplishments. This nexus between openness to interpersonal diversity, as an aspect of the larger personality trait of openness, and creativity has precipitated considerable scholarly interest across the disciplines of personality, social and organizational psychology, and neuroscientific investigation. In this paper, we review the neurobehavioral properties, including the cognitive processes and neural mechanisms, that connect these two constructs. Further, we explore how culture influences levels of openness and creativity in individuals and consider how creativity predisposes individuals toward openness to a plethora of experiences, including those occurring in culturally diverse contexts. This reciprocal entanglement of creativity and openness has been shown to foster a reduction in biases, augment conflict resolution capabilities, and generally yield superior outcomes in multicultural environments. [ABSTRACT FROM AUTHOR]

Published
2023
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17. Dissecting the role of Amerindian genetic ancestry and the ApoE ε4 allele on Alzheimer disease in an admixed Peruvian population

Author

Marca-Ysabel, Maria Victoria, Rajabli, Farid, Cornejo-Olivas, Mario, Whitehead, Patrice G., Hofmann, Natalia K., Illanes Manrique, Maryenela Zaida, Veliz Otani, Diego Martin, Milla Neyra, Ana Karina, Castro Suarez, Sheila, Meza Vega, Maria, Adams, Larry D., Mena, Pedro R., Rosario, Isasi, Cuccaro, Michael L., Vance, Jeffery M., Beecham, Gary W., Custodio, Nilton, Montesinos, Rosa, Mazzetti Soler, Pilar E., and Pericak-Vance, Margaret A.

Published
2021
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18. The neurobiology of openness as a personality trait.

Author

Raya, Maison Abu, Ogunyemi, Adedoyin O., Broder, Jake, Carstensen, Veronica Rojas, Illanes-Manrique, Maryenela, and Rankin, Katherine P.

Subjects
PERSONALITY, OPENNESS to experience, NEUROBIOLOGY, NEUROLOGICAL disorders, FIVE-factor model of personality, BRAIN diseases
Abstract

Openness is a multifaceted behavioral disposition that encompasses personal, interpersonal, and cultural dimensions. It has been suggested that the interindividual variability in openness as a personality trait is influenced by various environmental and genetic factors, as well as differences in brain functional and structural connectivity patterns along with their various associated cognitive processes. Alterations in degree of openness have been linked to several aspects of health and disease, being impacted by both physical and mental health, substance use, and neurologic conditions. This review aims to explore the current state of knowledge describing the neurobiological basis of openness and how individual differences in openness can manifest in brain health and disease. [ABSTRACT FROM AUTHOR]

Published
2023
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19. Exploring effect of known Alzheimer disease genetic loci in the Peruvian population

Author

Cornejo‐Olivas, Mario, primary, Rajabli, Farid, additional, Kushch, Nicholas A., additional, Mena, Pedro Ramon, additional, Illanes‐Manrique, Maryenela, additional, Adams, Larry D., additional, Whitehead, Patrice L., additional, Hamilton‐Nelson, Kara L., additional, Milla‐Neyra, Karina, additional, Marca, Victoria, additional, Sarapura‐Castro, Elison, additional, Manrique‐Enciso, Carla, additional, Mejía, Koni K., additional, Isasi, Rosario, additional, Castro‐Suarez, Sheila, additional, Araujo‐Aliaga, Ismael, additional, Custodio, Nilton, additional, Montesinos, Rosa, additional, Griswold, Anthony J., additional, Dalgard, Clifton L., additional, Beecham, Gary W., additional, Cuccaro, Michael L., additional, Vance, Jeffery M., additional, and Pericak‐Vance, Margaret A., additional

Published
2022
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20. Admixed ancestral composition with Amerindian predominance at the Peruvian Alzheimer Disease Initiative (PeADI)

Author

Cubas‐Montecino, Diana, primary, Rajabli, Farid, additional, Illanes‐Manrique, Maryenela, additional, Kushch, Nicholas A., additional, Mena, Pedro Ramon, additional, Whitehead, Patrice L., additional, Hamilton‐Nelson, Kara L., additional, Milla‐Neyra, Karina, additional, Marca, Victoria, additional, Sarapura‐Castro, Elison, additional, Manrique‐Enciso, Carla, additional, Mejía, Koni K., additional, Isasi, Rosario, additional, Castro‐Suarez, Sheila, additional, Araujo‐Aliaga, Ismael, additional, Custodio, Nilton, additional, Montesinos, Rosa, additional, Griswold, Anthony J., additional, Dalgard, Clifton L., additional, Beecham, Gary W., additional, Cuccaro, Michael L., additional, Vance, Jeffery M., additional, Cornejo‐Olivas, Mario, additional, and Pericak‐Vance, Margaret A., additional

Published
2022
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21. Transcriptomic Analysis of Whole Blood in Admixed Latinx Alzheimer Disease Cohorts

Author

Griswold, Anthony J., primary, Gu, Tianjie, additional, Van Booven, Derek, additional, Whitehead, Patrice L., additional, Hamilton‐Nelson, Kara L., additional, Contreras, Maricarmen, additional, Sanchez, Jose Javier, additional, Tejada, Sergio, additional, Adams, Larry D., additional, Mena, Pedro Ramon, additional, Bush, William S., additional, Silva‐Vergara, Concepcion, additional, Cornejo‐Olivas, Mario, additional, Illanes‐Manrique, Maryenela, additional, Cuccaro, Michael L., additional, Vance, Jeffery M., additional, Feliciano‐Astacio, Briseida E., additional, Beecham, Gary W., additional, and Pericak‐Vance, Margaret A., additional

Published
2022
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22. The Peruvian Alzheimer Disease Initiative (PeADI): An international effort model to increase diversity in AD research

Author

Illanes‐Manrique, Maryenela, primary, Mena, Pedro Ramon, additional, Milla‐Neyra, Karina, additional, Adams, Larry D., additional, Mejía, Koni K., additional, Rios‐Pinto, Julia, additional, Isasi, Rosario, additional, Medina‐Colque, Angel, additional, Beecham, Gary W., additional, Cornejo‐Herrera, Ivan, additional, Vance, Jeffery M., additional, Ochoa‐Valle, Edward, additional, Castro‐Suarez, Sheila, additional, Cuccaro, Michael L., additional, Sarapura‐Castro, Elison, additional, Cornejo‐Olivas, Mario, additional, and Pericak‐Vance, Margaret A., additional

Published
2022
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23. Analysis of Alzheimer Disease Plasma Biomarker pTau‐181 in Individuals of Diverse Admixed Ancestral Backgrounds

Author

Grimmer, Timo, primary, Rajabli, Farid, additional, Garcia‐Serje, Catherine, additional, Arvizu, Jamie, additional, Larkin‐Gero, Emma, additional, Whitehead, Patrice L., additional, Hamilton‐Nelson, Kara L., additional, Adams, Larry D., additional, Contreras, Maricarmen, additional, Sanchez, Jose Javier, additional, Tejada, Sergio, additional, Mena, Pedro Ramon, additional, Starks, Takiyah D., additional, Cornejo‐Olivas, Mario, additional, Illanes‐Manrique, Maryenela, additional, Silva‐Vergara, Concepcion, additional, Cuccaro, Michael L., additional, Vance, Jeffery M., additional, Feliciano‐Astacio, Briseida E., additional, Byrd, Goldie S., additional, Beecham, Gary W., additional, Haines, Jonathan L., additional, and Pericak‐Vance, Margaret A., additional

Published
2022
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24. 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

Published
2022
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25. 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

Published
2022
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27. Cognitive and Neuropsychiatric features of an Alzheimer’s Disease Cohort in the Peruvian Population (P16-3.004)

Author

Olivas, Mario Cornejo, primary, Mena, Pedro, additional, Illanes-Manrique, Maryenela, additional, Adams, Larry D., additional, Sarapura-Castro, Elison, additional, Marca, Victoria, additional, Isasi, Rosario, additional, Castro-Suarez, Sheila, additional, Beecham, Gary, additional, Mejia, Koni, additional, Vance, Jeffery M., additional, Manrique, Carla, additional, Cuccaro, Michael L., additional, Meza-Vega, Maria, additional, and Pericak-Vance, Margaret A., additional

Published
2022
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28. Assessment of AD‐related plasma biomarkers in diverse ancestral populations

Author

Griswold, Anthony J., primary, Rajabli, Farid, additional, Garcia‐Serje, Catherine, additional, Hamilton‐Nelson, Kara L., additional, Adams, Larry D., additional, Tejada, Sergio, additional, Mena, Pedro Ramon, additional, Starks, Takiyah D., additional, Whitehead, Patrice L., additional, Silva‐Vergara, Concepcion, additional, Cuccaro, Michael L., additional, Martinez, Izri, additional, Illanes‐Manrique, Maryenela, additional, Cornejo‐Olivas, Mario R., additional, Laux, Renee A., additional, Caywood, Laura J., additional, Reitz, Christiane, additional, Beecham, Gary W., additional, Byrd, Goldie S., additional, Feliciano‐Astacio, Briseida E., additional, Scott, William K., additional, Haines, Jonathan L., additional, Vance, Jeffery M., additional, and Pericak‐Vance, Margaret A., additional

Published
2021
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29. Clinical profile of an Alzheimer´s disease cohort in the Peruvian population

Author

Cornejo‐Olivas, Mario R, primary, Mena, Pedro Ramon, additional, Illanes‐Manrique, Maryenela, additional, Adams, Larry D., additional, Marca, Victoria, additional, Isasi, Rosario, additional, Castro‐Suarez, Sheila, additional, Beecham, Gary W., additional, Mejía, Koni Katerin, additional, Vance, Jeffery M., additional, Manrique‐Enciso, Carla, additional, Cuccaro, Michael L., additional, Meza‐Vega, Maria, additional, and Pericak‐Vance, Margaret A., additional

Published
2021
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30. Asesoramiento genético a una portadora asintomática de DMD: Primer caso reportado en el Sistema de Salud Pública del Perú

Author

Bazalar-Montoya, Jeny, Illanes-Manrique, Maryenela, Inca-Martinez, Miguel, Marca, Victoria, Huaman-Dianderas, Francia, Guevara-Fujita, Maria Luisa, Fujita, Ricardo, and Cornejo-Olivas, Mario

Abstract

Duchenne muscular dystrophy (DMD) is a rapidly progressive dystrophinopathy with X-linked inheritance. This report describes a woman with a family history of male relatives affected by DMD, as she sought out genetic counseling about her concerns related to family planning and risks of eventually having children with the disease. We proposed her to get involved in a pilot program for carrier-status diagnosis and genetic counseling. This case illustrates the importance of a genetic counseling program for diagnosis of asymptomatic carriers in neurogenetic diseases, particularly in regions with low-resource settings. We discussed successes and misunderstandings faced throughout the process, supporting policies for present and future challenges from this and similar kinds of diagnoses. La distrofia muscular de Duchenne (DMD) es una distrofinopatía rápidamente progresiva con herencia ligada al cromosoma X. Este reporte describe el caso de una mujer con historia familiar de hermano y sobrinos con DMD, que acudió a consulta para orientación e información sobre riesgos inherentes a una eventual planificación familiar. Le propusimos participar en un programa piloto de asesoramiento genético para determinar su estado de portador o no de la variante causal de DMD en la familia. Esta primera experiencia ilustra la importancia de tener un programa de asesoramiento genético para el diagnóstico de portadores asintomáticos de enfermedades neurogenéticas en regiones con bajos recursos. Se incluyen reflexiones y comentarios sobre aspectos positivos y retos presentados durante el proceso, las políticas de apoyo presente y futuro para el afronte de los complejos problemas planteados por éste y similares diagnósticos.

Published
2021

31. Asesoramiento genético a una portadora asintomática de DMD: Primer caso reportado en el Sistema de Salud Pública del Perú

Author

Bazalar-Montoya, Jeny, Illanes-Manrique, Maryenela, Inca-Martinez, Miguel, Marca, Victoria, Huaman-Dianderas, Francia, Guevara-Fujita, Maria Luisa, Fujita, Ricardo, and Cornejo-Olivas, Mario

Subjects
asesoramiento genético, Duchenne muscular dystrophy, genetic counseling, Genetic Carrier Screening, Detección de portador genético, genetic carrier, portador genético, distrofia muscular de duchenne
Abstract

SUMMARY Duchenne muscular dystrophy (DMD) is a rapidly progressive dystrophinopathy with X-linked inheritance. This report describes a woman with a family history of male relatives affected by DMD, as she sought out genetic counseling about her concerns related to family planning and risks of eventually having children with the disease. We proposed her to get involved in a pilot program for carrier-status diagnosis and genetic counseling. This case illustrates the importance of a genetic counseling program for diagnosis of asymptomatic carriers in neurogenetic diseases, particularly in regions with low-resource settings. We discussed successes and misunderstandings faced throughout the process, supporting policies for present and future challenges from this and similar kinds of diagnoses. RESUMEN La distrofia muscular de Duchenne (DMD) es una distrofinopatía rápidamente progresiva con herencia ligada al cromosoma X. Este reporte describe el caso de una mujer con historia familiar de hermano y sobrinos con DMD, que acudió a consulta para orientación e información sobre riesgos inherentes a una eventual planificación familiar. Le propusimos participar en un programa piloto de asesoramiento genético para determinar su estado de portador o no de la variante causal de DMD en la familia. Esta primera experiencia ilustra la importancia de tener un programa de asesoramiento genético para el diagnóstico de portadores asintomáticos de enfermedades neurogenéticas en regiones con bajos recursos. Se incluyen reflexiones y comentarios sobre aspectos positivos y retos presentados durante el proceso, las políticas de apoyo presente y futuro para el afronte de los complejos problemas planteados por éste y similares diagnósticos.

Published
2020

32. 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

Published
2020
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36. 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

Published
2018
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37. Generalizability of Tau and Amyloid Plasma Biomarkers in Alzheimer's Disease Cohorts of Diverse Genetic Ancestries.

Author

Griswold AJ, Rajabli F, Gu T, Arvizu J, Golightly CG, Whitehead PL, Hamilton-Nelson KL, Adams LD, Sanchez JJ, Mena PR, Starks TD, Illanes-Manrique M, Silva C, Bush WS, Cuccaro ML, Vance JM, Cornejo-Olivas MR, Feliciano-Astacio BE, Byrd GS, Beecham GW, Haines JL, and Pericak-Vance MA

Abstract

Introduction: Plasma phosphorylated threonine-181 of Tau and amyloid beta are biomarkers for differential diagnosis and preclinical detection of Alzheimer disease (AD). Given differences in AD risk across diverse populations, generalizability of existing biomarker data is not assured., Methods: In 2,086 individuals of diverse genetic ancestries (African American, Caribbean Hispanic, and Peruvians) we measured plasma pTau-181 and Aβ42/Aβ40. Differences in biomarkers between cohorts and clinical diagnosis groups and the potential discriminative performance of the two biomarkers were assessed., Results: pTau-181 and Aβ42/Aβ40 were consistent across cohorts. Higher levels of pTau181 were associated with AD while Aβ42/Aβ40 had minimal differences. Correspondingly, pTau-181 had greater predictive value than Aβ42/Aβ40, however, the area under the curve differed between cohorts., Discussion: pTau-181 as a plasma biomarker for clinical AD is generalizable across genetic ancestries, but predictive value may differ. Combining genomic and biomarker data from diverse individuals will increase understanding of genetic risk and refine clinical diagnoses., Competing Interests: Conflict of Interest The authors declare no conflicts of interest.

Published
2024
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