A dinucleotide repeat polymorphism in a τ intron was identified and used in a case-control study to analyze, the genetic association of τ with several neurodegenerative diseases with τ pathology. Subjects with the homozygous τ A0 alleles were excessively represented in the progressive supranuclear palsy (PSP) group, compared with the age-matched healthy control group. Consequently, this allele is more frequently found in PSP than in a group of healthy subjects. This trend was not found in Alzheimer's disease or parkinsonism-dementia complex of Guam, both of which are accompanied by major τ pathology. The result suggests a possible involvement of τ in the patbogenesis of PSP.
ASJC Scopus subject areas
- Clinical Neurology