title: The solved and unsolved mysteries of the genetics of early-onset Alzheimer's disease.
abstract: Approximately half of the Alzheimer's disease (AD) cases that are associated with early onset appear to be transmitted as a pure genetic, autosomal dominant trait. Genetic analyses of these pedigrees have found three causal genes: betaAPP, presenilin 1 (PS1), and presenilin 2 (PS2). This review provides an update on the pathological consequences of mutations in early-onset AD genes, the phenotypic heterogeneity of those cases, and future directions for research and clinical practice.
authors.affiliation: ekaterina.rogaeva@utoronto.ca
authors.forename: Ekaterina
authors.initials: E
authors.lastname: Rogaeva
mesh_terms: D000328:Adult; D017668:Age of Onset; D000368:Aged; D000544:Alzheimer Disease / Q000453:epidemiology / Q000235:genetics*; D053829:Amyloid Precursor Protein Secretases; D016564:Amyloid beta-Protein Precursor / Q000235:genetics* / Q000378:metabolism; D053327:Apolipoprotein E4; D001057:Apolipoproteins E / Q000235:genetics; D016282:Aspartic Acid Endopeptidases; D002883:Chromosomes, Human, Pair 14 / Q000235:genetics; D002891:Chromosomes, Human, Pair 21 / Q000235:genetics; D010450:Endopeptidases / Q000378:metabolism; D004843:Epistasis, Genetic; D005544:Forecasting; D005799:Genes, Dominant; D018740:Genetic Heterogeneity; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing; D006801:Humans; D008565:Membrane Proteins / Q000235:genetics; D008875:Middle Aged; D009419:Nerve Tissue Proteins / Q000235:genetics / Q000378:metabolism; D020336:Paraparesis, Spastic / Q000235:genetics; D010375:Pedigree; D010641:Phenotype; D053764:Presenilin-1; D053766:Presenilin-2; D011499:Protein Processing, Post-Translational
chemical_list: D016564:Amyloid beta-Protein Precursor; D053327:Apolipoprotein E4; D001057:Apolipoproteins E; D008565:Membrane Proteins; D009419:Nerve Tissue Proteins; C508853:PSEN1 protein, human; C508861:PSEN2 protein, human; D053764:Presenilin-1; D053766:Presenilin-2; D053829:Amyloid Precursor Protein Secretases; D010450:Endopeptidases; D016282:Aspartic Acid Endopeptidases; C509280:BACE1 protein, human