Neurology
HOME HELP FEEDBACK SUBSCRIPTIONS ARCHIVE SEARCH TABLE OF CONTENTS
QUICK SEARCH:   [advanced]


     

This Article
Right arrow Figures Only
Right arrow Full Text
Right arrow Full Text (PDF)
Right arrow Data Supplement
Right arrow Correspondence:
Submit a response
Right arrow Alert me when this article is cited
Right arrow Alert me when Correspondence are posted
Right arrow Alert me if a correction is posted
Services
Right arrow Email this article to a friend
Right arrow Similar articles in this journal
Right arrow Similar articles in PubMed
Right arrow Alert me to new issues of the journal
Right arrow Download to citation manager
Right arrow reprints & permissions
Citing Articles
Right arrow Citing Articles via Google Scholar
Google Scholar
Right arrow Articles by Worgall, S.
Right arrow Articles by Crystal, R. G.
Right arrow Search for Related Content
PubMed
Right arrow PubMed Citation
Right arrow Articles by Worgall, S.
Right arrow Articles by Crystal, R. G.
Related Collections
Right arrow MRI
Right arrow MRS
Right arrow DWI
Right arrow Lipidoses
Right arrow Clinical trials Observational study (Cohort, Case control)
Right arrowRelated Article
NEUROLOGY 2007;69:521-535
© 2007 American Academy of Neurology

Neurological deterioration in late infantile neuronal ceroid lipofuscinosis

S. Worgall, MD, PhD, M. V. Kekatpure, MD, L. Heier, MD, D. Ballon, PhD, J. P. Dyke, PhD, D. Shungu, PhD, X. Mao, PhD, B. Kosofsky, MD, M. G. Kaplitt, MD, PhD, M. M. Souweidane, MD, D. Sondhi, PhD, N. R. Hackett, PhD, C. Hollmann, PhD and R. G. Crystal, MD

From the Departments of Genetic Medicine (S.W., D. Sondhi, N.R.H., C.H., R.G.C.), Pediatrics (S.W., M.V.K., B.K.), Radiology (L.H., D.B., J.P.D., D. Shungu, X.M.), and Neurological Surgery (M.G.K., M.M.S.), Weill Medical College of Cornell University, New York, NY.

Address correspondence and reprint requests to the Department of Genetic Medicine, Weill Medical College of Cornell University, 1300 York Avenue, Box 96, New York, NY 10021 geneticmedicine{at}med.cornell.edu

Background: Late infantile neuronal ceroid lipofuscinosis (LINCL) is associated with progressive degeneration of the brain and retina starting in early childhood.

Methods: Thirty-two individual neurologic, ophthalmologic, and CNS imaging (MRI and MRS) assessments of 18 children with LINCL were analyzed. Disease severity was followed by two rating scales, one previously established but modified to solely assess the brain and exclude the retinal disease (modified Hamburg LINCL scale), and a newly developed scale, with expanded evaluation of the CNS impairment (Weill Cornell LINCL scale).

Results: For the 18 children, the Weill Cornell scale yielded a closer correlation with both age and time since initial clinical manifestation of the disease than did the modified Hamburg scale. There were no significant differences as a function of age or time since initial manifestation of the disease in the rating scales among the most frequent CLN2 mutations (G3556C, 56% of all alleles or C3670T, 22% of all alleles). Measurements of cortical MRS N-acetyl-aspartate content, MRI ventricular, gray matter and white matter volume, and cortical apparent diffusion coefficient correlated to a variable degree with the age of the children and the time since initial clinical manifestation of the disease. All imaging measurements correlated better with the Weill Cornell CNS scale compared to the modified Hamburg LINCL scale.

Conclusion: The data suggest that the Weill Cornell late infantile neuronal ceroid lipofuscinosis (LINCL) scale, together with several of the MRI measurements, may be useful in the assessment of severity and progression of LINCL and for the evaluation of novel therapeutic strategies.

Editorial, see page 503

Supported by NIH U01 NS047458 and NIH GCRC M01 RR00047; Will Rogers Memorial Fund, Los Angeles, CA; and the Nathan’s Battle Foundation, Greenwood, IN. Protocol registration number: NCT00151268 www.clinicaltrials.gov.

Disclosure: The authors report no conflicts of interest.

Received December 27, 2006. Accepted in final form April 2, 2007.


Related Article

Imaging of late infantile neuronal ceroid lipofuscinosis: A clinical rating scale
Denia Ramirez-Montealegre and David A. Pearce
Neurology 2007 69: 503-504. [Full Text] [PDF]





HOME HELP FEEDBACK SUBSCRIPTIONS ARCHIVE SEARCH TABLE OF CONTENTS
Copyright © 2007 by AAN Enterprises, Inc.