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
Missense mutations of the PS-1/S182 gene in german early-onset Alzheimer's disease patients
✍ Scribed by Rupert Sandbrink; Dai Zhang; Konrad Beyreuther; Sibylle Schaeffer; Joachim Bauer; Colin L. Masters; Hans Förstl
- Publisher
- John Wiley and Sons
- Year
- 1996
- Tongue
- English
- Weight
- 231 KB
- Volume
- 40
- Category
- Article
- ISSN
- 0364-5134
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Familial Alzheimer's disease (AD) is an autosomal dominant disorder characterized by memory impairment and multiple cognitive deficits which occurs in mid to late life. Early onset AD has been associated with mutations in three genes, of which presenilin 1 (PS1) mutations are the most frequent. We s
Mutations in the presenilin-1 (PS1) gene account for the majority of familial early-onset Alzheimer's disease (EOAD) cases. We screened the coding part of the PS1 gene for the presence of mutations in a French family with EOAD, using single strand conformation polymorphism (SSCP) analysis. Patients
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
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