A lack of the R406W tau mutation in progressive supranuclear palsy and corticobasal degeneration.

doi:10.1212/wnl.52.2.404

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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...

Topics

Aged
Aged, 80 and over
Basal Ganglia Diseases
Brain Diseases
Female
Genes, Recessive
Humans
Linkage Disequilibrium
Male
Middle Aged
Mutation
Nerve Degeneration
Phenotype
Polymorphism, Genetic
Supranuclear Palsy, Progressive
tau Proteins

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