[1] The mutation was found in 1992 in Florida by Dr. Michael Mullan and Dr. Fiona Crawford working on DNA samples supplied by a group of Swedish researchers led by Dr Lars Lannfelt.
The genetic error causes Alzheimer's disease to develop in the early 50s for the family members who inherit it.
The other main effect the discovery of the Swedish mutation had was to provide one transgenic mouse model of Alzheimer's disease.
[3] It is thought that the Swedish mutation causes early-onset Alzheimer's disease by beta-secretase cleavage within the secretory pathway.
[4] The Swedish mutation mice are used to study the effects of amyloid plaques and to develop potential treatments for Alzheimer's disease.