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Arch Neurol. 2005 Sep;62(9):1444-50.

A new mutation of the tau gene, G303V, in early-onset familial progressive supranuclear palsy.

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  • 1Banco de Tejidos para Investigaciones Neurológicas, Universidad Autónoma de Madrid, Spain.

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.

PMID:
16157753
[PubMed - indexed for MEDLINE]
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