Study: Genetic Mutations Linked to Familial Alzheimer Disease

Genetic mutations of the protein presenilin have been found to be associated with early-onset familial Alzheimer disease, according to a study reported in the November issue of the Archives of Neurology.

Alzheimer disease is often accompanied by a buildup of certain proteins or plaques in the brain. Since 1991, the results of genetic studies have led to the identification of gene mutations and variations that can either cause Alzheimer's disease or increase the risk for developing the disease.

Familial Alzheimer disease accounts for approximately 5 percent to 10 percent of all cases of Alzheimer's disease.

Dr. Sandro Sorbi, of the University of Florence in Italy, and his colleagues obtained DNA samples from 45 individuals with familial Alzheimer's disease. The researchers then screened certain genes for mutations associated with familial Alzheimer's disease and identified several families carrying presenilin mutations.

The researchers said their findings confirm and extend the theory that presenilin gene mutations may be typical for Alzheimer's disease. They added that the identification of new mutations is important for developing diagnostic testing programs.

Other sources: Archives of Neurology 2003;60:1518-1519