CACNA1A mutations
Hemiplegic migraine, episodic ataxia type 2, and the others
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.
In 1996, Ophoff et al.1 showed that familial hemiplegic migraine (FHM) and episodic ataxia type 2 (EA2) are both caused by mutations within CACNA1A, a gene encoding for the α1A subunit of a neuronal P/Q type calcium channel. Molecular analysis of five unrelated FHM and two EA2 families as well as one EA2 sporadic case suggested that these two clinically distinct conditions may be due to distinct types of mutations within CACNA1A: missense mutations in FHM and truncating mutations in EA2.1,2 More recently, a recurrent missense mutation, T666M, was identified in most families affected by FHM with progressive cerebellar ataxia.3 In this issue, Battistini et al.4 and Carrera et al.5 identified in two additional FHM families missense mutations located within important functional regions of CACNA1A. Also in this issue, Jen et al.6 identify a truncating mutation within an EA2 family. Interestingly, two members of the pedigree experienced hemiparesis during some of their ataxic spells. Altogether these data confirmed the distinct nature of the mutations causing these two conditions. However, the detailed clinical analyses of the families reported in this issue of Neurology bring additional clinically important information.
FHM and EA2: Two clinically distinct conditions.
FHM is an autosomal dominant form of migraine with aura in which the aura is characterized by motor weakness of variable intensity.7 Symptoms include both typical migraine and severe episodes with prolonged aura (up to several days or weeks), impaired consciousness ranging from confusion to profound coma, …
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
Variable clinical expression of mutations in the P/Q-type calcium channel gene in familial hemiplegic migraineG. M. Terwindt, R. A. Ophoff, J. Haan et al.Neurology, April 01, 1998 -
Articles
A new CACNA1A gene mutation in acetazolamide-responsive familial hemiplegic migraine and ataxiaS. Battistini, S. Stenirri, M. Piatti et al.Neurology, July 01, 1999 -
Articles
High prevalence of CACNA1A truncations and broader clinical spectrum in episodic ataxia type 2C. Denier, A. Ducros, K. Vahedi et al.Neurology, June 01, 1999 -
Views & Reviews
Clinical spectrum of episodic ataxia type 2J. Jen, G. W. Kim, R. W. Baloh et al.Neurology, January 12, 2004