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White matter microstructure pathology in classic galactosemia revealed by neurite orientation dispersion and density imaging

Timmers, Inge; Zhang, Hui; Bastiani, Matteo; Jansma, Bernadette M.; Roebroeck, Alard; Rubio-Gozalbo, M. Estela


Inge Timmers

Hui Zhang

Matteo Bastiani

Bernadette M. Jansma

Alard Roebroeck

M. Estela Rubio-Gozalbo


White matter abnormalities have been observed in patients with classic galactosemia, an inborn error of galactose metabolism. However, magnetic resonance imaging (MRI) data collected in the past were generally qualitative in nature. Our objective was to investigate white matter microstructure pathology and examine correlations with outcome and behaviour in this disease, by using multi-shell diffusion weighted imaging. In addition to standard diffusion tensor imaging (DTI), neurite orientation dispersion and density imaging (NODDI) was used to estimate density and orientation dispersion of neurites in a group of eight patients (aged 16–21 years) and eight healthy controls (aged 15–20 years). Extensive white matter abnormalities were found: neurite density index (NDI) was lower in the patient group in bilateral anterior areas, and orientation dispersion index (ODI) was increased mainly in the left hemisphere. These specific regional profiles are in agreement with the cognitive profile observed in galactosemia, showing higher order cognitive impairments, and language and motor impairments, respectively. Less favourable white matter properties correlated positively with age and age at onset of diet, and negatively with behavioural outcome (e.g. visual working memory). To conclude, this study provides evidence of white matter pathology regarding density and dispersion of neurites in these patients. The results are discussed in light of suggested pathophysiological mechanisms.


Timmers, I., Zhang, H., Bastiani, M., Jansma, B. M., Roebroeck, A., & Rubio-Gozalbo, M. E. (2015). White matter microstructure pathology in classic galactosemia revealed by neurite orientation dispersion and density imaging. Journal of Inherited Metabolic Disease, 38(2), 295-304.

Journal Article Type Article
Acceptance Date Oct 6, 2014
Online Publication Date Oct 25, 2014
Publication Date 2015-03
Deposit Date Oct 15, 2018
Publicly Available Date Oct 15, 2018
Journal Journal of Inherited Metabolic Disease
Print ISSN 0141-8955
Electronic ISSN 1573-2665
Publisher Springer Verlag
Peer Reviewed Peer Reviewed
Volume 38
Issue 2
Pages 295-304
Keywords White Matter; Fractional Anisotropy; Diffusion Tensor Imaging; Visual Working Memory; Galactosemia
Public URL
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