Article
A lack of the R406W tau mutation in progressive supranuclear palsy and corticobasal degeneration.
Neurology - 15 Jan 1999
Higgins J J, Litvan I, Nee L E, Loveless J M
Abstract excerpt
Linkage disequilibrium studies suggest that progressive supranuclear palsy (PSP) is an autosomal recessive condition that maps to a polymorphism in the tau gene. These results provide evidence that homozygous mutations in the tau gene may cause PSP. Recently, a missense mutation in exon 13 of one tau allele (R406W) was found in a single family with an atypical clinicopathologic form of dominantly inherited PSP....
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