A new mutation of the τ gene, G303V, in early-onset familial progressive supranuclear palsy
R Ros, S Thobois, N Streichenberger… - Archives of …, 2005 - jamanetwork.com
Background Progressive supranuclear palsy (PSP) is a clinicopathological syndrome
related to τ deposits and in linkage disequilibrium with τ polymorphisms. Some rare familial
PSP cases have been related to τ gene mutations. Objective To present the clinical,
pathological, and molecular data of one family with early-onset autosomal dominant PSP.
Design We performed clinical examinations, quantitative neurological tests, positron
emission tomographic scans with fluorodopa F 18 and raclopride C 11, analysis of τ …
related to τ deposits and in linkage disequilibrium with τ polymorphisms. Some rare familial
PSP cases have been related to τ gene mutations. Objective To present the clinical,
pathological, and molecular data of one family with early-onset autosomal dominant PSP.
Design We performed clinical examinations, quantitative neurological tests, positron
emission tomographic scans with fluorodopa F 18 and raclopride C 11, analysis of τ …