Hutton, M., Busfield, F., Wragg, M., Crook, R., Perez-Tur, J., Clark, R. F., Prihar, G., Talbot, C., Phillips, H., Wright, K., Baker, M., Lendon, C., Duff, K., Martinez, A., Houlden, H., Nichols, A., Karran, E., Roberts, G., Roques, P., Rossor, M., Venter, J. C., Adams, M. D., Cline, R. T., Phillips, C. A., Fuldner, R. A., Hardy, J., Goate, A.
Complete Analysis of the Presenilin 1 Gene In Early Onset Alzheimer's Disease
Neuroreport. 1996 Feb 29; 7(3): 801-5.
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.