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Genetic evidence for the involvement of τ in progressive supranuclear palsy
Author(s) -
Conrad Chris,
Andreadis Athena,
Trojanowski John Q.,
Dickson Dennis W.,
Kang David,
Chen Xiaohua,
Wiederholt Wigbert,
Hansen Larry,
Masliah Eliezer,
Thal Leon J.,
Katzman Robert,
Xia Yu,
Saitoh Tsunao
Publication year - 1997
Publication title -
annals of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 4.764
H-Index - 296
eISSN - 1531-8249
pISSN - 0364-5134
DOI - 10.1002/ana.410410222
Subject(s) - progressive supranuclear palsy , parkinsonism , pathogenesis , allele , tau pathology , dementia , degenerative disease , corticobasal degeneration , tau protein , pathology , medicine , disease , alzheimer's disease , genetics , biology , gene
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 disease with τ pathology. Subjects with the homozygous τ AO 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 τ possible involvement of τ in the pathogenesis of PSP.