Format

Send to:

Choose Destination
See comment in PubMed Commons below
Trends Mol Med. 2002 Dec;8(12):555-62.

Tau gene mutations: dissecting the pathogenesis of FTDP-17.

Author information

  • 1Dept of Neurology and Cambridge Centre for Brain Repair, University of Cambridge, UK.

Abstract

Tau is a microtubule-associated protein involved in microtubule assembly and stabilization. Abnormal filamentous tau deposits constitute a major defining characteristic of several neurodegenerative diseases, including Alzheimer's disease. Although the presence of tau pathology correlates with the symptoms of Alzheimer's disease, there was no genetic evidence linking tau to neurodegeneration until recently. However, since 1998, the identification of more than 25 mutations in the tau gene, associated with frontotemporal dementia and parkinsonism linked to chromosome 17, has demonstrated that tau dysfunction can lead to neurodegeneration and the development of clinical symptoms.

PMID:
12470988
[PubMed - indexed for MEDLINE]
PubMed Commons home

PubMed Commons

0 comments
How to join PubMed Commons

    Supplemental Content

    Full text links

    Icon for Elsevier Science
    Loading ...
    Write to the Help Desk