Argyrophilic grain disease is associated with apolipoprotein E epsilon 2 allele.
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.
Ghebremedhin
E
E
Department of Anatomy, J.W. Goethe-University, Frankfurt/Main, Germany. Ghebremedhin@em.uni-frankfurt.de
Schultz
C
C
Botez
G
G
Rüb
U
U
Sassin
I
I
Braak
E
E
Braak
H
H
D000368:Aged; D000369:Aged, 80 and over; D000483:Alleles; D000544:Alzheimer Disease; D053329:Apolipoprotein E2; D001057:Apolipoproteins E / Q000235:genetics*; D001921:Brain / Q000473:pathology; D001923:Brain Chemistry; D004247:DNA / Q000032:analysis; D003704:Dementia / Q000209:etiology / Q000235:genetics; D003937:Diagnosis, Differential; D005260:Female; D005787:Gene Frequency; D005838:Genotype; D006801:Humans; D008099:Liver / Q000737:chemistry; D008297:Male; D008875:Middle Aged; D019636:Neurodegenerative Diseases / Q000235:genetics*; D010766:Phosphorylation; D012307:Risk Factors; D013154:Spleen / Q000737:chemistry; D016875:tau Proteins / Q000378:metabolism
D053329:Apolipoprotein E2; D001057:Apolipoproteins E; D016875:tau Proteins; D004247:DNA