A Presenilin-1 Truncating Mutation Is Present in Two Cases with Autopsy-Confirmed Early-Onset Alzheimer Disease
نویسندگان
چکیده
منابع مشابه
Autopsy-confirmed familial early-onset Alzheimer disease caused by the l153V presenilin 1 mutation.
BACKGROUND Three affected individuals are described from a small English kindred with early-onset autosomal dominant familial Alzheimer disease (FAD) caused by a leucine-to-valine change at codon 153 (L153V) of the presenilin 1 (PSEN1) gene. METHODS Clinical information on the pedigree was collected directly from family members and from hospital records. Samples of DNA were screened by means ...
متن کاملNovel presenilin 1 mutation associated with early-onset Alzheimer`s disease in a Saudi patient.
We report a 60-year-old Saudi patient with the clinical diagnosis of Alzheimer`s disease (AD) and a novel mutation in the presenilin gene. We investigated mutations in the presenilin-1 gene in Saudi patients with AD using polymerase chain reaction and direct DNA sequencing methods. We extracted genomic DNA from the whole blood of both patients and normal control individuals. We sequenced and co...
متن کاملA novel presenilin 1 mutation (Leu166Arg) associated with early-onset Alzheimer disease.
BACKGROUND Pathogenic mutations in the presenilin 1 (PS1) gene leading to early-onset Alzheimer disease have been described in various populations. The different mutations are not distributed randomly in the PS1 protein but are clustered in some PS1 exons. OBJECTIVE To screen the PS1 gene in search of a potential mutation in a Spanish family with early-onset Alzheimer disease. METHODS Singl...
متن کاملA founder mutation in presenilin 1 causing early-onset Alzheimer disease in unrelated Caribbean Hispanic families.
CONTEXT Genetic determinants of Alzheimer disease (AD) have not been comprehensively examined in Caribbean Hispanics, a population in the United States in whom the frequency of AD is higher compared with non-Hispanic whites. OBJECTIVE To identify variant alleles in genes related to familial early-onset AD among Caribbean Hispanics. DESIGN AND SETTING Family-based case series conducted in 19...
متن کاملClinical features of early-onset Alzheimer disease in a large kindred with an E280A presenilin-1 mutation.
OBJECTIVES To characterize clinical features of a very large pedigree with early-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 seri...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: The American Journal of Human Genetics
سال: 1998
ISSN: 0002-9297
DOI: 10.1086/301672