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Research ArticlePediatric Neuroimaging

Global and Widespread Local White Matter Abnormalities in Juvenile Neuronal Ceroid Lipofuscinosis

U. Roine, T.J. Roine, A. Hakkarainen, A. Tokola, M.H. Balk, M. Mannerkoski, L.E. Åberg, T. Lönnqvist and T. Autti
American Journal of Neuroradiology July 2018, 39 (7) 1349-1354; DOI: https://doi.org/10.3174/ajnr.A5687
U. Roine
aFrom the Department of Radiology (U.R., T.J.R., A.H., A.T., M.H.B., T.A.), HUS Medical Imaging Center
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T.J. Roine
aFrom the Department of Radiology (U.R., T.J.R., A.H., A.T., M.H.B., T.A.), HUS Medical Imaging Center
dimec-Vision Lab (T.J.R.), Department of Physics, University of Antwerp, Wilrijk (Antwerp), Belgium
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A. Hakkarainen
aFrom the Department of Radiology (U.R., T.J.R., A.H., A.T., M.H.B., T.A.), HUS Medical Imaging Center
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A. Tokola
aFrom the Department of Radiology (U.R., T.J.R., A.H., A.T., M.H.B., T.A.), HUS Medical Imaging Center
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M.H. Balk
aFrom the Department of Radiology (U.R., T.J.R., A.H., A.T., M.H.B., T.A.), HUS Medical Imaging Center
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M. Mannerkoski
bDepartments of Child Psychiatry (M.M.)
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L.E. Åberg
cPsychiatry (L.E.Å), University of Helsinki and Helsinki University Hospital, Helsinki, Finland
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T. Lönnqvist
eDepartment of Child Neurology (T.L.), Children's Hospital, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.
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T. Autti
aFrom the Department of Radiology (U.R., T.J.R., A.H., A.T., M.H.B., T.A.), HUS Medical Imaging Center
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    Fig 1.

    The relationship between disease severity measured by the Unified Parkinson's Disease Rating Scale (UPDRS), Part III, and fractional anisotropy (A) and mean diffusivity (B) calculated from the whole-brain white matter tract skeleton.

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    Fig 2.

    Tract-Based Spatial Statistics results for decreased fractional anisotropy in patients with juvenile neuronal ceroid lipofuscinosis visualized on axial (A), coronal (B), and sagittal (C) slices. The white matter tract skeleton is visualized in green, and the significant results are visualized from red (P = .05) to yellow (P < .001). Fractional anisotropy values are significantly (P < .001) decreased in many areas such as the corpus callosum, corticospinal tracts, corona radiata, and superior longitudinal fasciculi.

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    Fig 3.

    Decreased fractional anisotropy in patients with juvenile neuronal ceroid lipofuscinosis in, for example, the left posterior thalamic radiation (P < .001) and left posterior corona radiata (P < .001) on sagittal slices 58 (A) and 79 (B). The white matter tract skeleton is visualized in green, and significant results are visualized from red (P = .05) to yellow (P < .001).

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    Fig 4.

    Tract-Based Spatial Statistics results for increased mean diffusivity in patients with juvenile neuronal ceroid lipofuscinosis visualized on axial (A), coronal (B), and sagittal (C) slices. The white matter tract skeleton is visualized in green, and the significant results are visualized from red (P = .05) to yellow (P < .001). Multiple areas but not as many as for fractional anisotropy (Fig 2) have significantly (P < .001) increased mean diffusivity values.

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    Table 1:

    Global microstructural differences between children with CLN3 and age-matched control group with both skeleton and tractography approaches

    MeasureControlCLN3 1stCLN3 2ndP Valuea (CLN3 1st vs Control)P Valuea (CLN3 2nd vs Control)P Valuea (CLN3 1st vs CLN3 2nd)
    FA (skeleton).328 ± .026.297 ± .021.288 ± .029<.001b<.001b.95
    FA (tractogram).271 ± .019.233 ± .016.224 ± .021.000001b.000001b.82
    MD (skeleton).965 × 10−3 ± .0582 × 10−31.011 × 10−3 ± .0806 × 10−31.057 × 10−3 ± .119 × 10−3.01b.005b.89
    MD (tractogram).957 × 10−3 ± .0506 × 10−31.036 × 10−3 ± .0882 × 10−31.108 × 10−3 ± .131 × 10−3<.001b<.001b.43
    AD (skeleton)1.29 × 10−3 ± .0614 × 10−31.31 × 10−3 ± .0769 × 10−31.36 × 10−3 ± .112 × 10−3.12.04b.83
    AD (tractogram)1.22 × 10−3 ± .0506 × 10−31.28 × 10−3 ± .0803 × 10−31.34 × 10−3 ± .122 × 10−3.008b<.001b.39
    RD (skeleton).801 × 10−3 ± .0578 × 10−3.859 × 10−3 ± .0849 × 10−3.907 × 10−3 ± .126 × 10−3.003b.002b.93
    RD (tractogram).823 × 10−3 ± .0512 × 10−3.917 × 10−3 ± .0927 × 10−3.990 × 10−3 ± .136 × 10−3<.001b<.001b.45
    CP (skeleton).169 ± .0135.163 ± .0125.157 ± .0146.04b.03b.73
    CP (tractogram).141 ± .0113.129 ± .00633.126 ± .00866<.001b<.001b.93
    • ↵a Age and sex were used as covariates.

    • ↵b Significant.

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American Journal of Neuroradiology: 39 (7)
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Cite this article
U. Roine, T.J. Roine, A. Hakkarainen, A. Tokola, M.H. Balk, M. Mannerkoski, L.E. Åberg, T. Lönnqvist, T. Autti
Global and Widespread Local White Matter Abnormalities in Juvenile Neuronal Ceroid Lipofuscinosis
American Journal of Neuroradiology Jul 2018, 39 (7) 1349-1354; DOI: 10.3174/ajnr.A5687

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Global and Widespread Local White Matter Abnormalities in Juvenile Neuronal Ceroid Lipofuscinosis
U. Roine, T.J. Roine, A. Hakkarainen, A. Tokola, M.H. Balk, M. Mannerkoski, L.E. Åberg, T. Lönnqvist, T. Autti
American Journal of Neuroradiology Jul 2018, 39 (7) 1349-1354; DOI: 10.3174/ajnr.A5687
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  • Expanding the Neuroimaging Phenotype of Neuronal Ceroid Lipofuscinoses
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