The New England Journal of Medicine
e-mail icon  FREE NEJM E-TOC    HOME   |   SUBSCRIBE   |   CURRENT ISSUE   |   PAST ISSUES   |   COLLECTIONS   |    Advanced Search
Sign in | Get NEJM's E-Mail Table of Contents — Free | Subscribe
 
Correspondence
PreviousPrevious
Volume 361:1997-1998 November 12, 2009 Number 20
NextNext

AGC1 Deficiency and Cerebral Hypomyelination

Since this article has no abstract, we have provided an extract of the first 100 words of the full text and any section headings.

 Sign up for free e-toc
 

This Article
-Full Text
- PDF
-PDA Full Text
-Purchase this article

Tools and Services
-Add to Personal Archive
-Add to Citation Manager
-Notify a Friend
-E-mail When Cited
-E-mail When Letters Appear

More Information
-Related Article
by Wibom, R.
-PubMed Citation
To the Editor: Wibom et al. (July 30 issue)1 suggest that impaired function of mitochondrial aspartate–glutamate carrier isoform 1 (AGC1) leads to hypomyelination. However, the results of magnetic resonance imaging (MRI) suggest differently. In true hypomyelination, the supratentorial white matter is hyperintense on T2-weighted MRI, and in young children cerebral atrophy is mild or absent (Figure 1).2 Early-onset, severe atrophy points to primary cortical degeneration.1 The clinical features of the patient, including epilepsy and severe retardation, also suggest a cortical disease rather than a leukoencephalopathy. The reduced peak of N-acetyl aspartate found on spectroscopy indicates neuronal . . . [Full Text of this Article]



HOME  |  SUBSCRIBE  |  SEARCH  |  CURRENT ISSUE  |  PAST ISSUES  |  COLLECTIONS  |  PRIVACY  |  TERMS OF USE  |  HELP  |  beta.nejm.org

Comments and questions? Please contact us.

The New England Journal of Medicine is owned, published, and copyrighted © 2010 Massachusetts Medical Society. All rights reserved.