T Roine1,2,3, U Roine4, A Tokola4, M H Balk4, M Mannerkoski4, L Åberg5, T Lönnqvist6, T Autti4. 1. Radiology, Child Psychiatry (M.M.) timo.roine@iki.fi. 2. Turku Brain and Mind Center (T.R.), University of Turku, Turku, Finland. 3. Department of Neuroscience and Biomedical Engineering (T.R.), Aalto University School of Science, Espoo, Finland. 4. Radiology, Child Psychiatry (M.M.). 5. Department of Psychiatry (L.Å.), University of Helsinki and Helsinki University Hospital, Helsinki, Finland. 6. Department of Child Neurology (T.L.), Children's Hospital, University of Helsinki and Helsinki University, Helsinki, Finland.
Abstract
BACKGROUND AND PURPOSE: We used diffusion MR imaging to investigate the structural brain connectivity networks in juvenile neuronal ceroid lipofuscinosis, a neurodegenerative lysosomal storage disease of childhood. Although changes in conventional MR imaging are typically not visually apparent in children aged <10 years, we previously found significant microstructural abnormalities by using diffusion MR imaging. Therefore, we hypothesized that the structural connectivity networks would also be affected in the disease. MATERIALS AND METHODS: We acquired diffusion MR imaging data from 14 children with juvenile neuronal ceroid lipofuscinosis (mean ± SD age, 9.6 ± 3.4 years; 10 boys) and 14 control subjects (mean ± SD age, 11.2 ± 2.3 years; 7 boys). A follow-up MR imaging was performed for 12 of the patients (mean ± SD age, 11.4 ± 3.2 years; 8 boys). We used graph theoretical analysis to investigate the global and local properties of the structural brain connectivity networks reconstructed with constrained spherical deconvolution-based whole-brain probabilistic tractography. RESULTS: We found significantly increased characteristic path length (P = .003) and decreased degree (P = .003), which indicated decreased network integration and centrality in children with juvenile neuronal ceroid lipofuscinosis. The findings were similar for the follow-up MR imaging, and there were no significant differences between the two acquisitions of the patients. In addition, we found that the disease severity correlated negatively (P < .007) with integration, segregation, centrality, and small-worldness of the networks. Moreover, we found significantly (P < .0003) decreased local efficiency in the left supramarginal gyrus and temporal plane, and decreased strength in the right lingual gyrus. CONCLUSIONS: We found significant global and local network alterations in juvenile neuronal ceroid lipofuscinosis that correlated with the disease severity and in areas related to the symptomatology.
BACKGROUND AND PURPOSE: We used diffusion MR imaging to investigate the structural brain connectivity networks in juvenile neuronal ceroid lipofuscinosis, a neurodegenerative lysosomal storage disease of childhood. Although changes in conventional MR imaging are typically not visually apparent in children aged <10 years, we previously found significant microstructural abnormalities by using diffusion MR imaging. Therefore, we hypothesized that the structural connectivity networks would also be affected in the disease. MATERIALS AND METHODS: We acquired diffusion MR imaging data from 14 children with juvenile neuronal ceroid lipofuscinosis (mean ± SD age, 9.6 ± 3.4 years; 10 boys) and 14 control subjects (mean ± SD age, 11.2 ± 2.3 years; 7 boys). A follow-up MR imaging was performed for 12 of the patients (mean ± SD age, 11.4 ± 3.2 years; 8 boys). We used graph theoretical analysis to investigate the global and local properties of the structural brain connectivity networks reconstructed with constrained spherical deconvolution-based whole-brain probabilistic tractography. RESULTS: We found significantly increased characteristic path length (P = .003) and decreased degree (P = .003), which indicated decreased network integration and centrality in children with juvenile neuronal ceroid lipofuscinosis. The findings were similar for the follow-up MR imaging, and there were no significant differences between the two acquisitions of the patients. In addition, we found that the disease severity correlated negatively (P < .007) with integration, segregation, centrality, and small-worldness of the networks. Moreover, we found significantly (P < .0003) decreased local efficiency in the left supramarginal gyrus and temporal plane, and decreased strength in the right lingual gyrus. CONCLUSIONS: We found significant global and local network alterations in juvenile neuronal ceroid lipofuscinosis that correlated with the disease severity and in areas related to the symptomatology.
Authors: N Isenberg; D Silbersweig; A Engelien; S Emmerich; K Malavade; B Beattie; A C Leon; E Stern Journal: Proc Natl Acad Sci U S A Date: 1999-08-31 Impact factor: 11.205
Authors: Shiree Heath; Katie L McMahon; Lyndsey Nickels; Anthony Angwin; Anna D Macdonald; Sophia van Hees; Kori Johnson; Eril McKinnon; David A Copland Journal: BMC Neurosci Date: 2012-08-10 Impact factor: 3.288
Authors: Ulrika Roine; Timo Roine; Juha Salmi; Taina Nieminen-von Wendt; Pekka Tani; Sami Leppämäki; Pertti Rintahaka; Karen Caeyenberghs; Alexander Leemans; Mikko Sams Journal: Mol Autism Date: 2015-12-15 Impact factor: 7.509