A new mutation of the tau gene, G303V, in early-onset familial progressive supranuclear palsy.
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Ros R, Thobois S, Streichenberger N, Kopp N, Sanchez MP, Perez M, Hoenicka J, Avila J, Honnorat J, de Yebenes JG
A new mutation of the tau gene, G303V, in early-onset familial progressive supranuclear palsy.
Arch Neurol. 2005 Sep;62(9):1444-50.
- PubMed ID
- 16157753 [ View in PubMed]
- Abstract
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 neurological tests, positron emission tomographic scans with fluorodopa F 18 and raclopride C 11, analysis of tau mutations, 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 tau, G303V, was found in the proband and other family members. tau Isoforms with 4 microtubule-binding repeats were overexpressed in the proband brain. CONCLUSIONS: The G303V mutation of tau is associated with autosomal dominant PSP. Expression of 4 microtubule-binding repeat tau isoforms is increased in the proband.