A novel missense mutation in the presenilin-1 gene in a familial Alzheimer's disease pedigree with abundant amyloid angiopathy
β Scribed by Minoru Yasuda; Kiyoshi Maeda; Yoshitaka Ikejiri; Toshio Kawamata; Shigetoshi Kuroda; Chikako Tanaka
- Book ID
- 117475661
- Publisher
- Elsevier Science
- Year
- 1997
- Tongue
- English
- Weight
- 517 KB
- Volume
- 232
- Category
- Article
- ISSN
- 0304-3940
No coin nor oath required. For personal study only.
π SIMILAR VOLUMES
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
Over fifty missense mutations in the presenilin-1 (PSEN1) gene have been reported in families with presenile familial Alzheimer's disease (FAD). We describe a novel missense mutation (G209R) within the predicted fourth transmembrane domain of the PSEN1 in a Japanese family with presenile FAD. The af