Publication
Title
Systematic genetic study of Alzheimer disease in Latin America : mutation frequencies of the amyloid precursor protein and presenilin genes in Colombia
Author
Abstract
Nearly all mutations in the presenilin 1 (PSEN1), presenilin 2 (PSEN2), and amyloid beta precursor protein (APP) genes lead to early-onset Alzheimer disease (EOAD, onset age at or before 65 years). In order to assess the genetic contribution of these genes in a series of Colombian AD cases, we performed a systematic mutation analysis in 11 autosomal dominant, 23 familial, and 42 sporadic AD patients (34% with age of onset less than or equal to 65 years). No APP missense mutations were identified. In three autosomal dominant cases (27.2%), two different PSEN1 missense mutations were identified. Both PSEN1 mutations are missense mutations that occurred in early-onset autosomal AD cases: an I143T mutation in one case (onset age 30 years) and an E280A mutation in two other cases (onset ages 35 and 42 years). In addition, a novel PSEN1 V94M mutation was present in one early-onset AD case without known family history (onset age 53 years) and absent in 53 controls. The E318G polymorphism was present in five AD cases and absent in controls. In PSEN2, two different silent mutations were detected, including one not reported elsewhere (P129). The majority of the Colombian AD cases, predominantly late-onset, were negative for PSEN and APP mutations. (C) 2001 Wiley-Liss, Inc.
Language
English
Source (journal)
American journal of medical genetics. - New York, N.Y., 1977 - 2002
American journal of medical genetics: part B: neuropsychiatric genetics. - Bognor Regis
Publication
New York, N.Y. : 2001
ISSN
0148-7299
Volume/pages
103:2(2001), p. 138-143
ISI
000171045300007
Full text (Publishers DOI)
Full text (publishers version - intranet only)
UAntwerpen
Faculty/Department
Research group
Publication type
Subject
Affiliation
Publications with a UAntwerp address
External links
Web of Science
Record
Identification
Creation 03.01.2013
Last edited 25.05.2017
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