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.
ABBREVIATIONS:
- CLN3
- juvenile neuronal ceroid lipofuscinosis
- CSD
- constrained spherical deconvolution
- LSD
- lysosomal storage disease
- UPDRS
- Unified Parkinson's Disease Rating Scale
Footnotes
This study was supported by a grant from Noah's Hope/Hope 4 Bridget, Thisbe and Noah Scott Foundation, and the Batten Disease Support and Research Association, Finnish Medical Foundation, Pehr Oscar Klingendahl Fund, Arvo and Lea Ylppö Foundation, Finnish Cultural Foundation, and Emil Aaltonen Foundation.
Disclosures: T. Roine—RELATED: Grant: Noah's Hope/Hope 4 Bridget, Thisbe and Noah Scott Foundation, Batten Disease Support and Research Association,* Comments: Money was paid to University of Helsinki, of which salary for 3 months was paid to me; Other: Emil Aaltonen Foundation, Finnish Cultural Foundation, Comments: Personal research grants (a total of 24 months). U. Roine—RELATED: Grant: Noah's Hope/Hope 4 Bridget, Thisbe and Noah Scott Foundation, and the Batten Disease Support and Research Association,* Comments: Money paid to University of Helsinki, and of these funds, salary for 5 months was paid to me; Support for Travel to Meetings for the Study or Other Purposes: Arvo and Lea Ylppö Foundation, Comments: Travel grant to attend Annual Meeting of the Organization for Human Brain Mapping 2018 conference; Other: Finnish Medical Foundation, Pehr Oscar Klingendahl Fund, and Arvo and Lea Ylppö Foundation, Comments: Personal research grants partially granted for this research project. L. Åberg—UNRELATED: Employment: Normal clinical work at the clinic for the intellectually impaired, City of Helsinki. T. Autti—RELATED: Grant: Batten Disease Support and Research Association, Comments: Grant $60,000. *Money paid to the institution.
- © 2019 by American Journal of Neuroradiology
