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2. APOE3 Christchurch heterozygosity delays clinical onset in autosomal dominant Alzheimer’s disease

Author

Quiroz, Yakeel T., primary, Aguillon, David, additional, Zuluaga‐Castaño, Yesica, additional, Baena, Ana Y., additional, Vasquez, Daniel, additional, Garcia, Gloria, additional, Madrigal, Lucia, additional, Hincapie, Liliana, additional, Sanchez, Justin S, additional, Sepulveda‐Falla, Diego, additional, Vila‐Castelar, Clara, additional, Gomez, Liliana Ramirez, additional, Aduen, Paula, additional, Acosta‐Uribe, Juliana, additional, Kosik, Kenneth S., additional, Johnson, Keith A., additional, Sperling, Reisa A., additional, Reiman, Eric M., additional, Lopera, Francisco, additional, and Arboleda‐Velasquez, Joseph F, additional

Published
2023
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3. APOE3 Christchurch mutation carriers from the Colombian kindred with autosomal dominant Alzheimer’s disease due to PSEN1 E280A

Author

Aguillon, David, primary, Lopera, Francisco, additional, Vasquez, Daniel, additional, Baena, Ana Y., additional, Hincapie, Liliana, additional, Zuluaga‐Castaño, Yesica, additional, Vila‐Castelar, Clara, additional, Ramirez‐Gomez, Liliana A., additional, Aduen, Paula, additional, Acosta‐Uribe, Juliana, additional, Kosik, Kenneth S., additional, Reiman, Eric M., additional, Arboleda‐Velasquez, Joseph F, additional, and Quiroz, Yakeel T., additional

Published
2022
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5. Clinical features of early-onset Alzheimer disease in a large kindred with an E280A presenilin-1 mutation

Author

Lopera, Francisco, Ardilla, Alfredo, Martinez, Alonso, Madrigal, Lucia, Arango-Viana, Juan Carlos, Lemere, Cynthia A., Arango-Lasprilla, Juan Carlos, Hincapie, Liliana, Arcos-Burgos, Mauricio, Ossa, Jorge E., Behrens, Isabella M., Norton, Joanne, Lendon, Corrine, Goate, Alison M., Ruiz-Linares, Andres, Rosselli, Monica, and Kosik, Kenneth S.

Subjects
Alzheimer's disease -- Physiological aspects, Familial diseases -- Analysis, Colombians -- Health aspects
Abstract

A study of 5 large Colombian families reveals that early-onset Alzheimer's disease has many of the same clinical features as late-onset disease. Among 3,000 people in the families, 6 had Alzheimer's disease at autopsy, 93 had probable early-onset disease and 29 had possible early-onset disease. These families are characterized by a mutation in the presenilin-1 gene, which has been linked to Alzheimer's disease. The average age of onset was 47 years but some began having symptoms in their 30s. Symptoms included headache, memory loss, personality change and gait disorders., Objectives.--To characterize clinical features of a very large pedigree with eady-onset Alzheimer disease (AD) in which all affected individuals carry the identical glutamic acid-to-alanine mutation at codon 280 in the presenilin-1 gene. Design.--Clinical histories were obtained by patient and family interviews and through medical or civil records. Using standard diagnostic criteria, a case series of 128 individuals was identified, of which 6 have definitive (autopsy-proven) early-onset AD, 93 have probable early-onset AD, and 29 have possible eady-onset AD. Setting.--Community based in Antioquia, Colombia. Patients.--A population-based sample in which all members of 5 extended families (nearly 3000 individuals) were surveyed. Criteria for inclusion required obtaining sufficient information to categorize the individual as affected. Main Outcome Measures.--Age at onset, neuropsychological profile, neurologic history, and examination. Results.--The patients had a mean age at onset of 46.8 years (range, 34-62 years). The average interval until death was 8 years. Headache was noted in affected individuals significantly more frequently than in those not affected. The most frequent presentation was memory loss followed by behavior and personality changes and progressive loss of language ability. In the final stages, gait disturbances, seizures, and myoclonus were frequent. Conclusions.--Other than the early onset, this clinical phenotype is indistinguishable from sporadic AD except that affected individuals frequently complained of headache preceding and during the disease. Despite the uniform genetic basis for the disease, there was significant variability in the age at onset, suggesting an important role for environmental factors or genetic modifiers in determining the age at onset. JAMA. 1997;277:793-799

Published
1997

6. The Colombian Alzheimer's Prevention Initiative (API) Registry

Author

Rios‐Romenets, Silvia, primary, Lopez, Hugo, additional, Lopez, Liliana, additional, Hincapie, Liliana, additional, Saldarriaga, Amanda, additional, Madrigal, Lucia, additional, Piedrahita, Francisco, additional, Navarro, Alex, additional, Acosta‐Uribe, Juliana, additional, Ramirez, Laura, additional, Giraldo, Margarita, additional, Acosta‐Baena, Natalia, additional, Sánchez, Sebastián, additional, Ramos, Claudia, additional, Muñoz, Claudia, additional, Baena, Ana, additional, Alzate, Diana, additional, Ospina, Paula, additional, Langbaum, Jessica B., additional, Cho, William, additional, Tariot, Pierre N., additional, Paul, Robert, additional, Reiman, Eric M., additional, and Lopera, Francisco, additional

Published
2016
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7. P2-411: The Colombian Alzheimer's Prevention Initiative (API) Registry

Author

Romenets, Silvia Rios, primary, Lopez, Hugo, additional, Lopez, Liliana, additional, Hincapie, Liliana, additional, Saldarriaga, Amanda, additional, Madrigal, Lucia, additional, Piedrahita, Francisco, additional, Acosta-Uribe, Juliana, additional, Giraldo, Margarita, additional, Acosta-Baena, Natalia, additional, Sanchez, Sebastian, additional, Munoz, Claudia, additional, Baena, Ana, additional, Alzate, Diana, additional, Ospina, Paula, additional, Langbaum, Jessica B., additional, Cho, William, additional, Tariot, Pierre N., additional, Paul, Robert, additional, Reiman, Eric M., additional, and Lopera, Francisco, additional

Published
2016
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8. The Colombian Alzheimer's Prevention Initiative (API) Registry

Author

Rios-Romenets, Silvia, Lopez, Hugo, Lopez, Liliana, Hincapie, Liliana, Saldarriaga, Amanda, Madrigal, Lucia, Piedrahita, Francisco, Navarro, Alex, Acosta-Uribe, Juliana, Ramirez, Laura, Giraldo, Margarita, Acosta-Baena, Natalia, Sánchez, Sebastián, Ramos, Claudia, Muñoz, Claudia, Baena, Ana, Alzate, Diana, Ospina, Paula, Langbaum, Jessica B., Cho, William, Tariot, Pierre N., Paul, Robert, Reiman, Eric M., and Lopera, Francisco

Published
2017
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9. THE COLOMBIAN ALZHEIMER’S PREVENTION INITIATIVE (API) REGISTRY

Author

Romenets, Silvia Rios, Lopez, Hugo, Lopez, Liliana, Hincapie, Liliana, Saldarriaga, Amanda, Madrigal, Lucia, Piedrahita, Francisco, Acosta-Uribe, Juliana, Giraldo, Margarita, Acosta-Baena, Natalia, Sanchez, Sebastian, Munoz, Claudia, Baena, Ana, Alzate, Diana, Ospina, Paula, Langbaum, Jessica B., Cho, William, Tariot, Pierre N., Paul, Robert, Reiman, Eric M., and Lopera, Francisco

Published
2016
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10. The E280A presenilin 1 Alzheimer mutation produces increased Aβ42 deposition and severe cerebellar pathology

Author

Lemere, Cynthia A., primary, Lopera, Francisco, additional, Kosik, Kenneth S., additional, Lendon, Corrine L., additional, Ossa, Jorge, additional, Saido, Takaomi C., additional, Yamaguchi, Haruyasu, additional, Ruiz, Andres, additional, Martinez, Alonso, additional, Madrigal, Lucia, additional, Hincapie, Liliana, additional, Arango L., Juan Carlos, additional, Anthony, Douglas C., additional, Koo, Edward H., additional, Goate, Alison M., additional, Selkoe, Dennis J., additional, and Arango V., Juan Carlos, additional

Published
1996
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