Mutations in presenilin 2 are rare causes of early onset familial Alzheimer's disease. Eighteen presenilin 2 mutations have been reported, although not all have been confirmed pathogenic. Much remains READ MORE http://brain.oxfordjournals.org/content/133/4/1143.long
Autosomal-dominant Alzheimer's disease has provided significant understanding of the pathophysiology of Alzheimer's disease. The present review summarizes clinical, pathological, imaging, biochemical, READ MORE http://alzres.com/content/pdf/alzrt59.pdf
BACKGROUND: Mutations in the presenilin (PSEN) genes are associated with early-onset familial Alzheimer's disease (FAD). Biochemical characterizations and comparisons have revealed that many PSEN muta READ MORE http://www.molecularneurodegeneration.com/content/3/1/20
OBJECTIVES: To characterize clinical features of a very large pedigree with early-onset Alzheimer disease (AD) in which all affected individuals carry the identical glutamic acid-to-alanine mutation a READ MORE http://jama.ama-assn.org/cgi/reprint/277/10/793.pdf
