Reader response: Clinical manifestations of homozygote allele carriers in Huntington disease
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.
We read with interest the article by Cubo et al.1 Patients with homozygous Huntington disease (HD) are rare—considering a patient as homozygous when presenting with repetitions greater than 36 in both alleles. Differences in age at onset, clinical characteristics, and evolution have been hypothesized because the gain function of the mutation is due to both alleles. Nevertheless, it has been shown that these patients have a similar clinical evolution. However, a very early study conducted by Squitieri et al.2 reported a more severe and rapid progression in homozygotes.
Footnotes
Author disclosures are available upon request (journal{at}neurology.org).
- © 2020 American Academy of Neurology
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
Dr. Dennis Bourdette and Dr. Lindsey Wooliscroft
► Watch
Related Articles
Alert Me
Recommended articles
-
Articles
DNA analysis in hereditary dentatorubral-pallidoluysian atrophyCorrelation between CAG repeat length and phenotypic variation and the molecular basis of anticipationO. Komure, A. Sano, N. Nishino et al.Neurology, January 01, 1995 -
Article
Huntington disease reduced penetrance alleles occur at high frequency in the general populationChris Kay, Jennifer A. Collins, Zosia Miedzybrodzka et al.Neurology, June 22, 2016 -
Articles
CAG repeat expansion in Huntington disease determines age at onset in a fully dominant fashionJ.-M. Lee, E.M. Ramos, J.-H. Lee et al.Neurology, February 08, 2012 -
Articles
Genetic testing of children at risk for Huntington's diseaseMartha A. Nance, US Huntington Disease Genetic Testing Group et al.Neurology, October 01, 1997