Assessing disease severity in late infantile neuronal ceroid lipofuscinosis using quantitative MR diffusion-weighted imaging.

TitleAssessing disease severity in late infantile neuronal ceroid lipofuscinosis using quantitative MR diffusion-weighted imaging.
Publication TypeJournal Article
Year of Publication2007
AuthorsDyke JP, Voss HU, Sondhi D, Hackett NR, Worgall S, Heier LA, Kosofsky BE, Uluğ AM, Shungu DC, Mao X, Crystal RG, Ballon D
JournalAJNR Am J Neuroradiol
Volume28
Issue7
Pagination1232-6
Date Published2007 Aug
ISSN0195-6108
KeywordsAdolescent, Brain, Child, Child, Preschool, Diffusion Magnetic Resonance Imaging, Female, Humans, Image Interpretation, Computer-Assisted, Male, Neuronal Ceroid-Lipofuscinoses, Reproducibility of Results, Sensitivity and Specificity, Severity of Illness Index
Abstract

BACKGROUND AND PURPOSE: Late infantile neuronal ceroid lipofuscinosis (LINCL), a form of Batten disease, is a fatal neurodegenerative genetic disorder, diagnosed via DNA testing, that affects approximately 200 children in the United States at any one time. This study was conducted to evaluate whether quantitative data derived by diffusion-weighted MR imaging (DWI) techniques can supplement clinical disability scale information to provide a quantitative estimate of neurodegeneration, as well as disease progression and severity.

MATERIALS AND METHODS: This study prospectively analyzed 32 DWI examinations from 18 patients having confirmed LINCL at various stages of disease. A whole-brain apparent diffusion coefficient (ADC) histogram was fitted with a dual Gaussian function combined with a function designed to model voxels containing a partial volume fraction of brain parenchyma versus CSF. Previously published whole-brain ADC values of age-matched control subjects were compared with those of the LINCL patients. Correlations were tested between the peak ADC of the fitted histogram and patient age, disease severity, and a CNS disability scale adapted for LINCL.

RESULTS: ADC values assigned to brain parenchyma were higher than published ADC values for age-matched control subjects. ADC values between patients and control subjects began to differ at 5 years of age based on 95% confidence intervals. ADC values had a nearly equal correlation with patient age (R2=0.71) and disease duration (R2=0.68), whereas the correlation with the central nervous system disability scale (R2=0.27) was much weaker.

CONCLUSION: This study indicates that brain ADC values acquired using DWI may be used as an independent measure of disease severity and duration in LINCL.

DOI10.3174/ajnr.A0551
Alternate JournalAJNR Am J Neuroradiol
PubMed ID17698521
PubMed Central IDPMC7977649
Grant ListR01 EB002070 / EB / NIBIB NIH HHS / United States
U01 NS047458 / NS / NINDS NIH HHS / United States
8R01EB002070-09 / EB / NIBIB NIH HHS / United States
5U01NS047458-02 / NS / NINDS NIH HHS / United States
Related Institute: 
MRI Research Institute (MRIRI)

Weill Cornell Medicine
Department of Radiology
525 East 68th Street New York, NY 10065