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Monogenic determinants of familial Alzheimer's disease: presenilin-2 mutations

✍ Scribed by P. Renbaum; E. Levy-Lahad


Publisher
Springer
Year
1998
Tongue
English
Weight
178 KB
Volume
54
Category
Article
ISSN
1420-682X

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Mutations in the presenilin genes (PS-1 and PS-2) cause early onset autosomal dominant Alzheimer's disease (AD). Eight early-onset, autopsy-documented familial AD kindreds were screened for mutations in PS-1, and seven different mutations were identified. Three of these were new mutations (G209V, A4

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## Background: Early-onset familial alzheimer's disease (eofad) is linked to mutations in three autosomal dominant genes: ps1, ps2 and app. the clinical presentation and age of onset of mutations is variable. ## Objectives: The aim of this report is to describe a novel ps1 mutation believed to be