Krabbe continuum or clinical conundrum?
Citation Manager Formats
Make Comment
See Comments
![Loading Loading](https://n.neurology.org/sites/all/modules/contrib/panels_ajax_tab/images/loading.gif)
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.
Molecular biology has had an extraordinary impact on our understanding of the genetic basis of human disease, fully one third of which affects neurologic function. The past decade has witnessed most of these advances. One of the principal products of this new information has been the demonstration that diseases with clearly different phenotypic expression may result from allelic mutations within the same gene. Neurologists and geneticists have long recognized that hexosaminidase A deficiency typically presents during infancy as Tay-Sachs disease but may also manifest in adolescence or adulthood with completely different pictures, including motor neuron disease, spinocerebellar degeneration, basal ganglia dysfunction, or, perhaps most disconcertingly, psychosis.1 These clinically disparate phenotypes are all explainable by different mutational events within the hexosaminidase genes, leading to variable functional abnormalities at the cellular level. Similar phenotypic heterogeneity exists among numerous other diseases that occur primarily within the pediatric age range, including X-linked spastic paraparesis, which is allelic with Pelizaeus-Merzbacher disease2,3; occipital horn syndrome, which is allelic with Menkes disease4; GM1 gangliosidosis5; and adult-onset metachromatic leukodystrophy.6
To aid the clinician in dealing with this varied disease spectrum, many inherited neurometabolic disorders, particularly …
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
Association of Neurofilament Light With the Development and Severity of Parkinson Disease
Dr. Rodolfo Savica and Dr. Parichita Choudhury
► Watch
Related Articles
- No related articles found.
Alert Me
Recommended articles
-
Articles
Adult-onset Krabbe disease with homozygous T1853C mutation in the galactocerebrosidase geneJ.-I. Satoh, H. Tokumoto, K. Kurohara et al.Neurology, November 01, 1997 -
Neurology Clinical Pathological Conference
A 23-year-old man with seizures and visual deficitRose-Mary Boustany, Jeffrey W. Britton, Joseph E. Parisi et al.Neurology, December 31, 2007 -
Articles
Peripheral neuropathy in Krabbe diseaseElectrodiagnostic findingsZaeem A. Siddiqi, Donald B. Sanders, Janice M. Massey et al.Neurology, July 24, 2006 -
Article
Biallelic variants in LARS2 and KARS cause deafness and (ovario)leukodystrophyMarjo S. van der Knaap, Marianna Bugiani, Marisa I. Mendes et al.Neurology, February 08, 2019