Michelle Wragg

TL;DR: This work has localized the PS-1 gene to a 75 kb region and present the structure of this gene, evidence for alternative splicing and describe six novel mutations in early onset FAD pedigrees all of which alter residues conserved in the STM26 (Presenilin 2: PS-2) gene.

TL;DR: The intron/exon structure of the PS-1 gene has been determined and this information has been used to identify a mutation in the splice acceptor site for exon 9 in a family with early onset Alzheimer's disease.

TL;DR: In the white series of cases, PS-1 accounted for about half as much of the risk for late-onset Alzheimer's disease as did ApoE4, and the smaller African-American series showed similar distribution of PS- 1 genotype between cases and controls.

TL;DR: A Midwestern American pedigree spanning four generations in which 15 individuals were affected by early‐onset dementia with long disease duration, with an autosomal dominant inheritance pattern, and with α‐rich neurofibrillary pathology found in the brain post mortem is presented.

TL;DR: The intron/exon structure of the gene is elucidated and intronic primers are designed to enable direct sequencing of the entire coding region (10 exons) of the presenilin gene in a large number of families.