Lafora bodies in skeletal muscle are fiber type specific
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.
Glycogen is the largest soluble cytosolic macromolecule, containing up to 55,000 glucoses per molecule. It is formed by glycogen synthase (GS) and branching enzyme (BE), which acting coordinately lead to branching after every sixth glucose and ultimately to a spherical shape that allows solubility. Polyglucosans are malformed glycogen molecules containing much less branching. They precipitate and accumulate into polyglucosan bodies (PB). PB characterize adult polyglucosan body disease (APBD) and Lafora disease (LD). In APBD, PB form in and often obstruct axons. APBD is an axonopathy with upper and lower motor neuron signs and no epilepsy. In LD, PB, called Lafora bodies (LB), occupy neuronal perikarya and dendrites. LD is a progressive myoclonus epilepsy, with no long tract or peripheral nerve deficits. APBD is caused by BE deficiency. LD is caused by mutations in the EPM2A and EPM2B genes encoding respectively the laforin phosphatase and the malin ubiquitin E3 ligase, which regulates laforin. In LD, glycogen becomes progressively phosphorylated, a pathologic process normally prevented by laforin. The charged phosphates unfold glycogen, expose its hydrophobic regions, and lead it to precipitate. GS precipitates with glycogen, but BE does not. Subsequent extension by GS unchecked by branching would convert the glycogen to polyglucosan.1,2
The next step in LD research is to understand the basis of the progressive phosphorylation. What is known is …
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. Ann Yeh and Dr. Daniela Castillo Villagrán
► Watch
Topics Discussed
Alert Me
Recommended articles
-
Clinical Implications of Neuroscience Research
Glycogen metabolismMetabolic coupling between astrocytes and neuronsEduardo E. Benarroch et al.Neurology, March 15, 2010 -
Editorials
Lafora progressive myoclonus epilepsyGlycogen storage disease vs neurodegenerative diseaseAntonio V. Delgado-Escueta et al.Neurology, May 23, 2012 -
Clinical/Scientific Notes
Phosphorylation prevents polyglucosan transport in Lafora diseaseJean-Marie Girard, Scellig S.D. Stone, Hannes Lohi et al.Neurology, May 23, 2012 -
Articles
Hepatic disease as the first manifestation of progressive myoclonus epilepsy of LaforaP. Gómez-Garre, E. Gutiérrez-Delicado, C. Gómez-Abad et al.Neurology, April 23, 2007