Missense and splice site mutations in tau associated with FTDP-17: Multiple pathogenic mechanisms
Citation Manager Formats
Make Comment
See Comments

This article requires a subscription to view the full text. If you have a subscription you may use the login form below to view the article. Access to this article can also be purchased.
Abstract
Recent identification of mutations in the gene encoding the microtubule-associated protein tau in the inherited frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17) has demonstrated that tau dysfunction can lead to neurodegeneration. At least nine missense mutations and one deletion mutation (ΔK280) have been identified in exons 9 through 13 that encode the microtubule-binding domains of tau. In addition, five mutations have been found close to the 5′ splice site of exon 10. The FTDP-17 missense and splice site mutations have multiple effects on the biology and function of tau. It is likely that these varied pathogenic mechanisms explain the wide range of clinical and neuropathologic features observed in the FTDP-17 tauopathies.
AAN Members
We have changed the login procedure to improve access between AAN.com and the Neurology journals. If you are experiencing issues, please log out of AAN.com and clear history and cookies. (For instructions by browser, please click the instruction pages below). After clearing, choose preferred Journal and select login for AAN Members. You will be redirected to a login page where you can log in with your AAN ID number and password. When you are returned to the Journal, your name should appear at the top right of the page.
AAN Non-Member Subscribers
Purchase access
For assistance, please contact:
AAN Members (800) 879-1960 or (612) 928-6000 (International)
Non-AAN Member subscribers (800) 638-3030 or (301) 223-2300 option 3, select 1 (international)
Sign Up
Information on how to subscribe to Neurology and Neurology: Clinical Practice can be found here
Purchase
Individual access to articles is available through the Add to Cart option on the article page. Access for 1 day (from the computer you are currently using) is US$ 39.00. Pay-per-view content is for the use of the payee only, and content may not be further distributed by print or electronic means. The payee may view, download, and/or print the article for his/her personal, scholarly, research, and educational use. Distributing copies (electronic or otherwise) of the article is not allowed.
Letters: Rapid online correspondence
REQUIREMENTS
You must ensure that your Disclosures have been updated within the previous six months. Please go to our Submission Site to add or update your Disclosure information.
Your co-authors must send a completed Publishing Agreement Form to Neurology Staff (not necessary for the lead/corresponding author as the form below will suffice) before you upload your comment.
If you are responding to a comment that was written about an article you originally authored:
You (and co-authors) do not need to fill out forms or check disclosures as author forms are still valid
and apply to letter.
Submission specifications:
- Submissions must be < 200 words with < 5 references. Reference 1 must be the article on which you are commenting.
- Submissions should not have more than 5 authors. (Exception: original author replies can include all original authors of the article)
- Submit only on articles published within 6 months of issue date.
- Do not be redundant. Read any comments already posted on the article prior to submission.
- Submitted comments are subject to editing and editor review prior to posting.
You May Also be Interested in
- Article
- Abstract
- Identification of tau mutations in FTDP-17.
- Potential pathogenic mechanisms of tau mutations in FTDP-17.
- Missense mutations alter tau self-interaction and polymerization into tau filaments.
- Mutations that alter alternative splicing of tau exon 10 (missense and 5′ splice site).
- Summary and conclusions.
- References
- Figures & Data
- Info & Disclosures
Dr. Nicole Sur and Dr. Mausaminben Hathidara
► Watch
Related Articles
- No related articles found.
Alert Me
Recommended articles
-
Clinical Implications of Neuroscience Research
Dynamics of microtubules and their associated proteinsRecent insights and clinical implicationsEduardo E. Benarroch et al.Neurology, April 20, 2016 -
Article
In vivo 18F-AV-1451 tau PET signal in MAPT mutation carriers varies by expected tau isoformsDavid T. Jones, David S. Knopman, Jonathan Graff-Radford et al.Neurology, February 09, 2018 -
Brief Communications
A lack of the R406W tau mutation in progressive supranuclear palsy and corticobasal degenerationJoseph J. Higgins, Irene Litvan, Linda E. Nee et al.Neurology, January 01, 1999 -
Articles
Atrophy patterns in IVS10+16, IVS10+3, N279K, S305N, P301L, and V337M MAPT mutationsJ. L. Whitwell, C. R. Jack, Jr, B. F. Boeve et al.Neurology, September 28, 2009