title: Early-onset Alzheimer disease: when is genetic testing appropriate?
abstract: Alzheimer disease (AD) is a neurodegenerative disease that is currently not preventable or curable. Early-onset AD can be due to mutations in several autosomal dominant genes. Clinical testing is available for presenilin 1 (PS1), which is the most common of these genes. However, many practical and ethical issues must be considered before ordering this test for patients with early-onset AD. In this paper, we present a case that demonstrates the complexities of genetic testing for early-onset AD.
authors.affiliation: University of California, San Francisco Memory and Aging Center, 94143-1207, USA. jgoldman@memory.ucsf.edu
authors.forename: Jill S
authors.initials: JS
authors.lastname: Goldman
authors.forename: Craig E
authors.initials: CE
authors.lastname: Hou
mesh_terms: D000544:Alzheimer Disease / Q000175:diagnosis / Q000235:genetics*; D053327:Apolipoprotein E4; D001057:Apolipoproteins E / Q000235:genetics; D001284:Atrophy; D002540:Cerebral Cortex / Q000473:pathology; D002869:Chromosome Aberrations; D004252:DNA Mutational Analysis; D004992:Ethics, Medical; D005260:Female; D005382:Financing, Personal / Q000191:economics / Q000941:ethics; D005799:Genes, Dominant; D020022:Genetic Predisposition to Disease / Q000235:genetics; D005820:Genetic Testing / Q000191:economics / Q000941:ethics; D006801:Humans; D008565:Membrane Proteins / Q000235:genetics; D008609:Mental Status Schedule / Q000706:statistics & numerical data; D008875:Middle Aged; D053764:Presenilin-1; D011594:Psychometrics
chemical_list: D053327:Apolipoprotein E4; D001057:Apolipoproteins E; D008565:Membrane Proteins; C508853:PSEN1 protein, human; D053764:Presenilin-1