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Alzheimer's disease (AD) has a significant genetic background manifested as autosomal dominant inheritance in some early-onset families and as familial risk in late-onset cases. Three genes responsible for early-onset autosomal dominant AD have been identified, and one gene, apolipoprotein E, has been confirmed as a susceptibility gene for late-onset forms of the disorder. These findings raise the possibility of genetic testing, either for early diagnosis or prediction. For early-onset autosomal dominant AD genetic testing will have a limited but useful role in confirming diagnosis in established cases and in predictive counselling for relatives; a situation analogous to that for Huntington's disease. For late-onset AD significant problems remain to be overcome before the advances in molecular genetics have a direct clinical application


Journal article


J Neurol

Publication Date





69 - 72


Adult, Age of Onset, Aged, Alzheimer Disease, Amyloid beta-Protein Precursor, Apolipoproteins E, Chromosomes, Human, Pair 1, Chromosomes, Human, Pair 14, Chromosomes, Human, Pair 21, DNA Mutational Analysis, Epistasis, Genetic, Genes, Dominant, Genetic Counseling, Genetic Testing, Genotype, Humans, Membrane Proteins, Middle Aged, Phenotype, Presenilin-1, Protein Isoforms, Risk Assessment