Abstract #3392

Robust global and widespread local white matter abnormalities in a longitudinal study of juvenile neuronal ceroid lipofuscinosis (CLN3)

Ulrika Roine¹, Timo Roine^2,3, Antti Hakkarainen³, Anna Tokola³, Marja H. Balk³, Minna Mannerkoski⁴, Tuula Lönnqvist⁵, and Taina Autti³

¹Department of Neuroscience and Biomedical Engineering, Aalto University, Espoo, Finland, ²iMinds-Vision Lab, Department of Physics, University of Antwerp, Wilrijk (Antwerp), Belgium, ³HUS Medical Imaging Center, Radiology, University of Helsinki and Helsinki University Hospital, Helsinki, Finland, ⁴Child Psychiatry, University of Helsinki and Helsinki University Hospital, Helsinki, Finland, ⁵Department of Child Neurology, Children's Hospital, University of Helsinki and Helsinki University Hospital, Helsinki, Finland

Juvenile neuronal ceroid lipofuscinosis (CLN3), is a progressive neurodegenerative lysosomal storage disease of the childhood, which manifests with loss of vision, seizures and loss of cognitive and motor functions, and leads to premature death. We investigated global and local white matter microstructure with diffusion MRI in 14 children with CLN3 imaged at two time points. Robust global analysis was performed using whole-brain tractography and white matter tract skeleton. Local microstructural abnormalities were investigated using tract-based spatial statistics. Significantly decreased fractional anisotropy and increased diffusivity values were found in subjects with CLN3 both at the global and local scale.

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