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AJNR Awards, New Junior Editors, and more. Read the latest AJNR updates

Research ArticlePediatrics
Open Access

Topological Alterations of the Structural Brain Connectivity Network in Children with Juvenile Neuronal Ceroid Lipofuscinosis

T. Roine, U. Roine, A. Tokola, M.H. Balk, M. Mannerkoski, L. Åberg, T. Lönnqvist and T. Autti
American Journal of Neuroradiology December 2019, 40 (12) 2146-2153; DOI: https://doi.org/10.3174/ajnr.A6306
T. Roine
bRadiology, Child Psychiatry (M.M.)
dTurku Brain and Mind Center (T.R.), University of Turku, Turku, Finland
eDepartment of Neuroscience and Biomedical Engineering (T.R.), Aalto University School of Science, Espoo, Finland
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U. Roine
bRadiology, Child Psychiatry (M.M.)
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A. Tokola
bRadiology, Child Psychiatry (M.M.)
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M.H. Balk
bRadiology, Child Psychiatry (M.M.)
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M. Mannerkoski
bRadiology, Child Psychiatry (M.M.)
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L. Åberg
cDepartment of Psychiatry (L.Å.), University of Helsinki and Helsinki University Hospital, Helsinki, Finland
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T. Lönnqvist
fDepartment of Child Neurology (T.L.), Children's Hospital, University of Helsinki and Helsinki University, Helsinki, Finland.
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T. Autti
bRadiology, Child Psychiatry (M.M.)
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    Fig 1.

    Reconstruction of the structural brain connectivity networks. A, Cortical and subcortical parcellation of the T1WI results in 164 gray matter regions. B, Whole-brain probabilistic streamlines tractography based on the corrected DWI can be used to reconstruct structural connectivity pathways of the brain. C, The structural brain connectivity network, in which the nodes represent the gray matter areas and the edges are weighted by the number of streamlines that connect the nodes. The size of the nodes corresponds to the volume of the gray matter area. The width of the edges corresponds to the number of streamlines, and the color of the edges corresponds to the direction of the connection (red: left-right, green: anterior-posterior, blue: superior-inferior).

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    Fig 2.

    Scatterplots and the fitted lines, describing the correlation between the global network properties and UPDRS Part III: motor examination scores. Statistically significant (Bonferroni corrected) correlation coefficients (c) are marked with an asterisk.

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    Fig 3.

    Local differences in betweenness centrality, local efficiency, and strength between the second acquisition of the patients with CLN3 and the control subjects. The size of the nodes illustrates the volume of the gray matter region, and the color indicates the statistical significance of the differences (P values). Significant differences (P < .0003) after a Bonferroni correction for multiple comparisons are highlighted with red circles. Local efficiency was decreased in the left supramarginal gyrus and the left temporal plane, and strength was decreased in the right lingual gyrus.

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    Table 1:

    Description of the symptoms of the patients with CLN3 during the first acquisition

    SymptomsNone, n (%)Mild, n (%)Severe, n (%)
    Visual impairment1 (7)9 (64)4 (29)
    Psychiatric symptoms9 (64)4 (29)1 (7)
    Epilepsy9 (64)3 (21)2 (14)
    Intellectual disability9 (64)4 (29)1 (7)
    Motor impairment9 (64)5 (36)0 (0)
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    Table 2:

    Global differences in the network properties between the patients with CLN3 and the control subjects, with age and sex used as covariates

    Network PropertyCLN3aControl SubjectsaP
    First AcquisitionSecond AcquisitionCLN3 First Acquisition vs. Control SubjectsCLN3 Second Acquisition vs. Control Subjects
    Betweenness centrality288 ± 22294 ± 17278 ± 11.084.008
    Characteristic path length0.118 ± 0.0620.130 ± 0.0730.074 ± 0.014.003b.003b
    Clustering coefficient5.27 ± 1.575.32 ± 2.126.45 ± 0.77.011.017
    Degree25.9 ± 4.625.3 ± 5.029.5 ± 1.79.003b.002b
    Global efficiency22.6 ± 8.622.8 ± 11.628.5 ± 4.5.014.030
    Small-worldness5.03 ± 0.855.24 ± 1.195.78 ± 0.80.009.126
    Strength511 ± 191506 ± 255645 ± 105.012.020
    • a Data are mean± standard deviation.

    • ↵b Indicates significant differences after the Bonferroni correction for multiple comparisons.

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American Journal of Neuroradiology: 40 (12)
American Journal of Neuroradiology
Vol. 40, Issue 12
1 Dec 2019
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T. Roine, U. Roine, A. Tokola, M.H. Balk, M. Mannerkoski, L. Åberg, T. Lönnqvist, T. Autti
Topological Alterations of the Structural Brain Connectivity Network in Children with Juvenile Neuronal Ceroid Lipofuscinosis
American Journal of Neuroradiology Dec 2019, 40 (12) 2146-2153; DOI: 10.3174/ajnr.A6306

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Topological Alterations of the Structural Brain Connectivity Network in Children with Juvenile Neuronal Ceroid Lipofuscinosis
T. Roine, U. Roine, A. Tokola, M.H. Balk, M. Mannerkoski, L. Åberg, T. Lönnqvist, T. Autti
American Journal of Neuroradiology Dec 2019, 40 (12) 2146-2153; DOI: 10.3174/ajnr.A6306
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  • Top-down and bottom-up propagation of disease in the neuronal ceroid lipofuscinoses
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  • Topological Structural Brain Connectivity Alterations in Aspartylglucosaminuria: A Case-Control Study
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