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

Jonathan P. Dyke, H. U. Voss, D. Sondhi, N. R. Hackett, S. Worgall, L. A. Heier, B. E. Kosofsky, A. M. Uluǧ, D. C. Shungu, X. Mao, Ronald Crystal, D. Ballon

Research output: Contribution to journalArticle

25 Citations (Scopus)

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 (R 2 = 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.

Original languageEnglish
Pages (from-to)1232-1236
Number of pages5
JournalAmerican Journal of Neuroradiology
Volume28
Issue number7
DOIs
Publication statusPublished - 1 Aug 2007
Externally publishedYes

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Neuronal Ceroid-Lipofuscinoses
Brain
Inborn Genetic Diseases
Neurodegenerative Diseases
Disease Progression
Central Nervous System

ASJC Scopus subject areas

  • Radiology Nuclear Medicine and imaging
  • Clinical Neurology

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Assessing disease severity in late infantile neuronal ceroid lipofuscinosis using quantitative MR diffusion-weighted imaging. / Dyke, Jonathan P.; Voss, H. U.; Sondhi, D.; Hackett, N. R.; Worgall, S.; Heier, L. A.; Kosofsky, B. E.; Uluǧ, A. M.; Shungu, D. C.; Mao, X.; Crystal, Ronald; Ballon, D.

In: American Journal of Neuroradiology, Vol. 28, No. 7, 01.08.2007, p. 1232-1236.

Research output: Contribution to journalArticle

Dyke, JP, Voss, HU, Sondhi, D, Hackett, NR, Worgall, S, Heier, LA, Kosofsky, BE, Uluǧ, AM, Shungu, DC, Mao, X, Crystal, R & Ballon, D 2007, 'Assessing disease severity in late infantile neuronal ceroid lipofuscinosis using quantitative MR diffusion-weighted imaging', American Journal of Neuroradiology, vol. 28, no. 7, pp. 1232-1236. https://doi.org/10.3174/ajnr.A0551
Dyke, Jonathan P. ; Voss, H. U. ; Sondhi, D. ; Hackett, N. R. ; Worgall, S. ; Heier, L. A. ; Kosofsky, B. E. ; Uluǧ, A. M. ; Shungu, D. C. ; Mao, X. ; Crystal, Ronald ; Ballon, D. / Assessing disease severity in late infantile neuronal ceroid lipofuscinosis using quantitative MR diffusion-weighted imaging. In: American Journal of Neuroradiology. 2007 ; Vol. 28, No. 7. pp. 1232-1236.
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AU - Voss, H. U.

AU - Sondhi, D.

AU - Hackett, N. R.

AU - Worgall, S.

AU - Heier, L. A.

AU - Kosofsky, B. E.

AU - Uluǧ, A. M.

AU - Shungu, D. C.

AU - Mao, X.

AU - Crystal, Ronald

AU - Ballon, D.

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N2 - 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 (R 2 = 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.

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