AANS Neurosurgeon | Volume 26, Number 3, 2017


Newly Identified Rare Alzheimer's Disease Gene Mutation More Common in Icelandic People

A rare variant in the TM2D3 gene linked to increased risk and earlier onset of Alzheimer’s disease

People with Icelandic heritage are more likely to carry a novel rare mutation in the TM2D3, which leads to greater risk for Alzheimer’s disease, based on a new study by Johanna Jakobsdottir of the Icelandic Heart Association, Sven van der Lee of Erasmus University in Rotterdam, and colleagues. Alzheimer’s disease is the most common form of dementia, affecting about 30 percent of adults above the age of 85. While scientists have already identified many common genetic variants that contribute to the disease, rare mutations with significant effects in the population have been more difficult to discover, except in rather isolated families. To find such rare variations, a collaboration of Alzheimer’s researchers throughout the U.S. and Europe performed an analysis covering more than 11,000 genes in 1,393 late-onset Alzheimer’s disease patients. They identified a variant in the TM2D3 gene that is associated with both a higher risk and earlier age of onset of Alzheimer’s disease. Click here to read more.


15th Annual WCIRDC California
Nov. 30-Dec. 2, 2017; Universal City, Calif.

Miami Brain Symposium
Dec. 1, 2017; Coral Gables, FL

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