Article
A new mutation of the tau gene, G303V, in early-onset familial progressive supranuclear palsy.
Archives of neurology - 1 Sept 2005
Ros Raquel, Thobois Stéphane, Streichenberger Nathalie, Kopp Nicolas, Sánchez Marina P, Pérez Mar, Hoenicka Janet, Avila Jesús, Honnorat Jerome, de Yébenes Justo G
Abstract excerpt
BACKGROUND: Progressive supranuclear palsy (PSP) is a clinicopathological syndrome related to tau deposits and in linkage disequilibrium with tau polymorphisms. Some rare familial PSP cases have been related to tau 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...
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