Pick bodies in a family with presenilin-1 Alzheimer's disease
β Scribed by Glenda M. Halliday; Yun Ju C. Song; Gila Lepar; William S. Brooks; John B. Kwok; Cindy Kersaitis; Gillian Gregory; Claire E. Shepherd; Farid Rahimi; Peter R. Schofield; Jillian J. Kril
- Publisher
- John Wiley and Sons
- Year
- 2004
- Tongue
- English
- Weight
- 619 KB
- Volume
- 57
- Category
- Article
- ISSN
- 0364-5134
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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
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