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American Journal of Alzheimer's Disease and Other Dementias logoLink to American Journal of Alzheimer's Disease and Other Dementias
. 2003 May-Jun;18(3):137–146. doi: 10.1177/153331750301800306

Neuropsychological stydy of familial Alzheimer's disease caused by mutation E280A in the presenilin 1 gene

Juan Carlos Arango Lasprilla 1, Jaime Iglesias 2, Francisco Lopera 3
PMCID: PMC10833779  PMID: 12811988

Abstract

In Antioquia, Colombia, investigators have recently discovered the largest family with the E280A mutation in the presenilin 1 gene that causes one type of familial Alzheimer's disease (FAD). The current study compares two groups within this family: those diagnosed with Alzheimer's disease (AD) in its early stage (nine subjects) and relatives (carriers) who did not show any signs of dementia (nine subjects). A battery of the following neuropsychological tests was administered to subjects in both groups: the Consortium to Establish a Registry for Alzheimer's Disease (CERAD), a Phonological Verbal Fluency test, the Visual “A” Cancellation Test, memory of three phrases, the Rey-Osterrieth Complex Figure, and the Trail Making Test Part A. Statistical analyses of the average test scores of each group showed that the AD group scored significantly (p < 0.01 or p < 0.05) lower on 29 of the 43 neuropsychological variables measured (67 percent). Therefore, this specific battery was useful in discriminating subjects with AD from their healthy relatives who are carriers of the disease. The AD group as a whole presented slight dementia with predominant deficits in memory, language, praxis, and attention. This profile is similar to those reported in subjects with sporadic AD in its early stage and confirms the findings found in other neuropsychological studies of subjects with FAD linked to mutations in chromosome 14.

Keywords: familial Alzheimer's disease, presenilin 1 gene, mutation E280A, chromosome 14

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Contributor Information

Juan Carlos Arango Lasprilla, Neurosciences Group, University of Antioquia (Medellín-Colombia), Rochester Hills, Michigan..

Jaime Iglesias, Biological and Health Psychology Department, Autonomous University of Madrid, Campus de Cantoblanco, Madrid..

Francisco Lopera, Neurosciences Group, University of Antioquia, Medellín, Colombia..

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