PEN–2 gene mutation in a familial Alzheimer’s disease case
✍ Scribed by C. Sala Frigerio*; P. Piscopo*; E. Calabrese; A. Crestini; L. Malvezzi Campeggi; R. Civita di Fava; S. Fogliarino; D. Albani; G. Marcon; R. Cherchi; R. Piras; G. Forloni; A. Confaloni
- Publisher
- Springer
- Year
- 2005
- Tongue
- English
- Weight
- 250 KB
- Volume
- 252
- Category
- Article
- ISSN
- 0340-5354
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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
## 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