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Background: Progressive supranuclear palsy (PSP) is a clinicopathological syndrome related to τdeposits and in linkage disequilibrium with τpolymorphisms. Some rare familial PSP cases have been related to τgene 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 τmutations, neuropathological examinations, and protein analyses on brain specimens. Results: Three family members had PSP confirmed by pathological features in the proband. A novel mutation of τ, G303V, was found in the proband and other family members. τIsoforms with 4 microtubule-binding repeats were overexpressed in the proband brain. Conclusions: The G303V mutation of τis associated with autosomal dominant PSP. Expression of 4 microtubule-binding repeat τisoforms is increased in the proband.
Background: Progressive supranuclear palsy (PSP) is a clinicopathological syndrome related to τdeposits and in linkage disequilibrium with τpolymorphisms. Some rare familial PSP cases have been related to τgene 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 τmutations, neuropathological examinations, and protein analyzes on brain specimens. Results: Three family members had PSP confirmed by pathological features in the proband. A novel mutation of τ, G303V, was found in the proband and other family members. τIsoforms with 4 microtubule-binding repeats were overexpressed in the proband brain. Conclusions: The G303V mutation of τis associated with autosomal dominant PSP. Expression of 4 microtubule-binding repeat τisoforms is inc reased in the proband.