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Your search keyword '"Ciappa, Alejandra"' showing total 6 results
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6 results on '"Ciappa, Alejandra"'

1. A founder mutation in presenilin 1 causing early-onset Alzheimer disease in unrelated Caribbean Hispanic families

Author

Athan, Eleni S., Williamson, Jennifer, Ciappa, Alejandra, Santana, Vincent, Romas, Stavra N., Lee, Joseph H., Rondon, Haydee, Lantigua, Rafael A., Medrano, Martin, Torres, Mayobanex, Arawaka, Shigeki, Rogaeva, Ekaterina, Song, You-Qiang, Sato, Christine, Kawarai, Toshitaka, Fafel, Kimberley C., Boss, Michael A., Seltzer, William K., Stern, Yaakov, Ceorge-Hyslop, Peter St, Tycko, Benjamin, and Mayeux, Richard

Subjects
Alzheimer's disease -- Genetic aspects, Hispanic Americans -- Diseases, Caribbean Americans -- Diseases
Abstract

A mutation in the presenilin 1 gene was found in eight out of 19 Caribbean Hispanic families with a family history of Alzheimer's disease that occurred before the age of 55. The families were not related to each other, indicating that they all had a common ancestor. The rate of Alzheimer's disease is higher in Caribbean Hispanics than in non-Hispanic whites.

Published
2001

6. Altered PET functional brain responses in cognitively intact elderly persons at risk for Alzheimer disease (carriers of the epsilon4 allele).

Author

Scarmeas N, Habeck C, Anderson KE, Hilton J, Devanand DP, Pelton GH, Tabert MH, Flynn J, Park A, Ciappa A, Tycko B, and Stern Y

Subjects
Aged, Alzheimer Disease diagnostic imaging, Alzheimer Disease physiopathology, Apolipoprotein E4, Cerebral Cortex physiopathology, Female, Genetic Predisposition to Disease genetics, Genotype, Humans, Male, Middle Aged, Neuropsychological Tests, Reference Values, Risk Factors, Serial Learning physiology, Alleles, Alzheimer Disease genetics, Apolipoproteins E genetics, Cerebral Cortex diagnostic imaging, Genetic Carrier Screening, Pattern Recognition, Visual physiology, Positron-Emission Tomography, Verbal Learning physiology
Abstract

Objective: Few previous studies have investigated the association between APOE genotype and brain activation during performance of cognitive tasks in healthy middle-aged and elderly subjects, and the results have been mixed. The authors investigated APOE-mediated differential brain activation in a group of healthy elderly subjects., Methods: Using H215O positron emission tomography (PET), they imaged 32 healthy subjects (26 non-epsilon4 carriers and 6 epsilon4 carriers) performing a serial shape-recognition memory task under two conditions: Simple Demand (SD), in which one shape was presented in each study trial, and Titrated Demand (TD), in which study list length was adjusted so that each subject recognized words at approximately 75% accuracy. Multiple-regression analyses were performed, with the "activation" difference (TD-SD PET counts) as the dependent variable and the APOE genotype (presence versus absence of the epsilon4 allele) as the independent variable., Results: Compared with non-carriers, epsilon4 carriers exhibited significantly decreased TD-SD activation differences in the left superior temporal, right superior frontal, left postcental, left precuneus, and posterior cingulate gyrus because epsilon4 carriers (versus non-carriers) showed increased activation during the SD and decreased activation during the TD condition., Conclusion: Patterns of brain activation during a nonverbal memory task differed as a function of APOE genotype and, therefore, of genetic risk for Alzheimer disease (AD). Differences in activation were not a reflection of task difficulty, but indicate memory-related altered cognitive processing. Brain regions with decreased activation in the epsilon4 subjects may result from subclinical incipient AD pathology and/or APOE-related neurophysiologic heterogeneity.

Published
2004
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