Send to:

Choose Destination
See comment in PubMed Commons below
Arch Neurol. 2005 Sep;62(9):1444-50.

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

Author information

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



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.


To present the clinical, pathological, and molecular data of one family with early-onset autosomal dominant PSP.


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.


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.


The G303V mutation of tau is associated with autosomal dominant PSP. Expression of 4 microtubule-binding repeat tau isoforms is increased in the proband.

[PubMed - indexed for MEDLINE]
PubMed Commons home

PubMed Commons

How to join PubMed Commons

    Supplemental Content

    Full text links

    Icon for Silverchair Information Systems
    Loading ...
    Write to the Help Desk