title: Assessing disease severity in late infantile neuronal ceroid lipofuscinosis using quantitative MR diffusion-weighted imaging.
abstract: OBJECTIVE
  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.
  
  
  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.
  
  
  CONCLUSIONS
  This study indicates that brain ADC values acquired using DWI may be used as an independent measure of disease severity and duration in LINCL.
authors: Citigroup Biomedical Imaging Center, Department of Radiology, Weill Medical College of Cornell University, New York, NY 10021, USA. jpd2001@med.cornell.edu
authors: J P
authors: JP
authors: Dyke
authors: H U
authors: HU
authors: Voss
authors: D
authors: D
authors: Sondhi
authors: N R
authors: NR
authors: Hackett
authors: S
authors: S
authors: Worgall
authors: L A
authors: LA
authors: Heier
authors: B E
authors: BE
authors: Kosofsky
authors: A M
authors: AM
authors: Uluğ
authors: D C
authors: DC
authors: Shungu
authors: X
authors: X
authors: Mao
authors: R G
authors: RG
authors: Crystal
authors: D
authors: D
authors: Ballon
mesh_terms: D000293:Adolescent; D001921:Brain / Q000473:pathology*; D002648:Child; D002675:Child, Preschool; D038524:Diffusion Magnetic Resonance Imaging / Q000379:methods*; D005260:Female; D006801:Humans; D007090:Image Interpretation, Computer-Assisted / Q000379:methods*; D008297:Male; D009472:Neuronal Ceroid-Lipofuscinoses / Q000145:classification / Q000175:diagnosis*; D015203:Reproducibility of Results; D012680:Sensitivity and Specificity; D012720:Severity of Illness Index
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