Article
Two novel presenilin-1 mutations (Ser169Leu and Pro436Gln) associated with very early onset Alzheimer's disease.
Neuroreport - 5 Oct 1998
Taddei K, Kwok J B, Kril J J, Halliday G M, Creasey H, Hallupp M, Fisher C, Brooks W S, Chung C, Andrews C, Masters C L, Schofield P R, Martins R N
Abstract excerpt
Mutations in the presenilin-1 (PS-1) gene account for the majority of early onset autosomal-dominant familial Alzheimer's disease (FAD) cases. We identified three missense mutations in the coding sequence of the PS-1 gene in three early onset (EO), FAD pedigrees. Alzheimer's disease was confirmed...
Topics
- Adult
- Age of Onset
- Alleles
- Alzheimer Disease
- DNA Mutational Analysis
- Family Health
- Fatal Outcome
- Female
- Genotype
- Humans
- Male
- Membrane Proteins
- Middle Aged
- Pedigree
- Point Mutation