Complete analysis of the presenilin 1 gene in early onset Alzheimer’s disease
Hutton, M., Busfield, F., Wragg, M., Crook, R., Perez-Tur, J., Clark, R., ... Goate, A. (1996). Complete analysis of the presenilin 1 gene in early onset Alzheimer’s disease. NeuroReport, 7(3), 801-805.
The presenilin 1 gene has recently been identified as the locus on chromosome 14 which is responsible for a large proportion of early onset, autosomal dominantly inherited Alzheimer's disease (AD). We have elucidated the intron/exon structure of the gene and designed intronic primers to enable direct sequencing of the entire coding region (10 exons) of the presenilin gene in a large number of families. This strategy has enabled us to find a further two novel mutations in the gene. We discuss the distribution of mutations and the proportions of autosomal dominant AD with a mean age of onset below 60 years caused by mutations in this gene.