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, Goate A
Department of Psychiatry, University of South Florida, Tampa 33613, USA.
Neuroreport. 1996 Feb 29;7(3):801-5. doi: 10.1097/00001756-199602290-00029.
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.
