Prominent behavioural and psychiatric symptoms in early-onset Alzheimer’s disease in a sib pair with the presenilin-1 gene R269G mutation
✍ Scribed by M. Doran; A. J. Larner
- Publisher
- Springer-Verlag
- Year
- 2004
- Tongue
- English
- Weight
- 164 KB
- Volume
- 254
- Category
- Article
- ISSN
- 1433-8491
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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
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