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.
The neuronal ceroid lipofuscinoses (NCLs) are a heterogeneous group of neurodegenerative disorders with the most common phenotype consisting of early-onset progressive motor deterioration, cognitive decline, visual failure, epilepsy, cerebellar ataxia, and premature death.1
Acknowledgments
Acknowledgment: The authors thank the patients and families for help and support.
Footnotes
Supplemental data at Neurology.org
Author contributions: Joshua Hersheson: study design, clinical assessment, sample collection, acquisition and interpretation of data, manuscript drafting. Derek Burke: acquisition and interpretation of data. Robert Clayton: data acquisition. Glenn Anderson: electron microscopy. Thomas S. Jacques: pathologic examination and interpretation. Philippa Mills: study design, interpretation of data, manuscript revision. Nicholas Wood: manuscript revision. Paul Gissen: clinical assessment, manuscript revision. Peter Clayton: study design, manuscript revision. Julian Fearnley: clinical assessment. Sara E. Mole: manuscript revision. Henry Houlden: study design, manuscript revision.
Study funding: Supported by the Medical Research Council (J.H. and H.H.).
Disclosure: J. Hersheson, D. Burke, R. Clayton, G. Anderson, T. Jacques, P. Mills, N. Wood, and P. Gissen report no disclosures relevant to the manuscript. P. Clayton has the following relevant financial activities outside the submitted work: salary from Great Ormond Street Hospital Children's Charity; grant from Actelion for investigator-led project on diagnosis and monitoring of Niemann-Pick C; fees for teaching courses from Orphan Europe/Recordati Foundation for Rare Diseases; fees for lectures/consultancy from Merck Corp USA, Actelion Shares in Waters, Abbott, and Abbvie. J. Fearnley reports no disclosures relevant to the manuscript. S. Mole receives royalties from publication of The Neuronal Ceroid Lipofuscinoses (Batten Disease), 2nd ed (Oxford University Press, 2011). H. Houlden reports no disclosures relevant to the manuscript. Go to Neurology.org for full disclosures.
- Received February 18, 2014.
- Accepted in final form July 15, 2014.
- © 2014 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
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
Costs and Utilization of New-to-Market Neurologic Medications
Dr. Robert J. Fox and Dr. Mandy Leonard
► Watch
Topics Discussed
Alert Me
Recommended articles
Pearls & Oy-sters: Levodopa-Responsive Adult NCL (Type B Kufs Disease) Due to CLN6 Mutation
A 23-year-old man with seizures and visual deficit
A novel cathepsin D mutation in 2 siblings with late infantile neuronal ceroid lipofuscinosis
Novel dominant MPAN family with a complex genetic architecture as a basis for phenotypic variability