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Argyrophilic grain disease is associated with apolipoprotein E epsilon 2 allele
E Ghebremedhin1, C Schultz, G Botez
1Department of Anatomy, J.W. Goethe-University, Frankfurt/Main, Germany. Ghebremedhin@em.uni-frankfurt.de
Abstract:
Argyrophilic grain disease (AGD) is a distinct degenerative disorder of the human brain associated with the formation of abnormally phosphorylated tau protein. AGD-related cytoskeletal changes are known to affect specific subsets of nerve cells and oligodendrocytes. Here we demonstrate a remarkable association between the apolipoprotein E (ApoE) epsilon2 allele and AGD. Individuals afflicted with AGD (n = 48) reveal a significantly higher frequency of the epsilon2 allele compared with controls (n = 43) (22% versus 4%, P < 0.0002). The association between AGD and epsilon2 allele of ApoE suggests that AGD can be distinguished from other neurodegenerative disorders not only neuropathologically, but also genetically.