Genetics and genetic counseling: recommendations for Alzheimer's disease, frontotemporal dementia, and Creutzfeldt-Jakob disease.

摘要

In this paper we discuss the clinical genetics of three neurodegenerative diseases (Alzheimer's disease, frontotemporal dementia, and Creutzfeldt-Jakob disease), the current application of genetic testing for these diseases, and the role of genetic counseling in familial dementia. We review the literature addressing the clinical application of these genetic findings, including susceptibility testing and predictive testing. In addition, we share our own experience working with families with familial neurodegenerative disease, the genetic counseling process, and the major issues that need attention in the genetic counseling setting.