Early diagnosis and the clinical genetics of Alzheimer's disease.
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
Lovestone
S
S
Institute of Psychiatry, London, UK. s.lovestone@iop.bpmf.ac.uk
D000328:Adult; D017668:Age of Onset; D000368:Aged; D000544:Alzheimer Disease / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics* / Q000517:prevention & control; D016564:Amyloid beta-Protein Precursor / Q000235:genetics*; D001057:Apolipoproteins E / Q000235:genetics*; D002878:Chromosomes, Human, Pair 1 / Q000235:genetics; D002883:Chromosomes, Human, Pair 14 / Q000235:genetics; D002891:Chromosomes, Human, Pair 21 / Q000235:genetics; D004252:DNA Mutational Analysis; D004843:Epistasis, Genetic; D005799:Genes, Dominant; D005817:Genetic Counseling; D005820:Genetic Testing; D005838:Genotype; D006801:Humans; D008565:Membrane Proteins / Q000235:genetics*; D008875:Middle Aged; D010641:Phenotype; D053764:Presenilin-1; D020033:Protein Isoforms / Q000235:genetics*; D018570:Risk Assessment
D016564:Amyloid beta-Protein Precursor; D001057:Apolipoproteins E; D008565:Membrane Proteins; C508853:PSEN1 protein, human; D053764:Presenilin-1; D020033:Protein Isoforms