A dinucleotide repeat polymorphism in a tau intron was identified and
used in a case-control study to analyze the genetic association of tau
with several neurodegenerative diseases with tau pathology. Subjects
with the homozygous tau A0 alleles were excessively represented in the
progressive supranuclear palsy (PSP) group, compared with the age-mat
ched healthy control group. Consequently, this allele is more frequent
ly found in PSP than in a group of healthy subjects. This trend was no
t found in Alzheimer's disease or parkinsonism-dementia complex of Gua
m, both of which are accompanied by major tau pathology. The result su
ggests a possible involvement of tau in the pathogenesis of PSP.