Genetic Counseling in a Swedish Alzheimer Family With Amyloid Precursor Protein Mutation

A pathogenic double-mutation was detected in families with early-onset alzheimer disease. This article reports on APP 670/671 mutation analysis for presymptomatic testing of family at risk of inheriting the disease. Of 3 members tested for the mutation, the one shown to be a carrier reacted with depression & suicidal thoughts. It is considered essential that those being tested receive extensive information & consultation before & after. A case where genetic counselling led to suicide is noted.