Chen-Jee Hong
Department of Psychiatry Taipei Veterans General Hospital
Alzheimer’s disease is a chronic, degenerative, dementing illness which involves a progressive, multifaceted loss of cognitive and intellectual abilities. Mutations in the amyloid precursor protein (APP) gene or the presenilin 1 and presenilin 2 (PS1 and PS2) genes can directly lead to the disease; ε4 allele of apolipoprotein (ApoE) increases the risk of the disease. The cognate proteins of these pathogenic loci have direct relations to the pathology of the relevant diseases, molecular testing has been able to make accurate diagnosis and to predict some of these diseases, while clonings of enzymes metabolizing APP has facilitated the possibility of treating or preventing Alzheimer’s disease.
In order to initiate a program of molecular diagnosis and genetic counseling for dementia, we have setup methods to genotype ApoE and screen mutations in APP, PS1 and PS2 genes in patients with family history of dementia. Although the rate of familial AD with identifiable mutations is still too low to obtain the physicians’ attention in Taiwan, the verdicts announcing physicians’ duty to warn third parties about genetically inherited diseases from the courts of the United States deserves our concern. We believe frequent open discussions may help preventing unnecessary conflicts and aggregating consensus on the practice of molecular testing and genetic counseling for AD and other late onset inherited diseases.
Keywords: Alzheimer’s disease, dementia, genetic counseling, molecular testing