The first two authors contributed equally to this work.
Specific pattern of early white-matter changes in pure hereditary spastic paraplegia†
Article first published online: 28 JUL 2010
Published 2010 Wiley-Liss, Inc.
Volume 25, Issue 12, pages 1986–1992, 15 September 2010
How to Cite
Duning, T., Warnecke, T., Schirmacher, A., Schiffbauer, H., Lohmann, H., Mohammadi, S., Young, P. and Deppe, M. (2010), Specific pattern of early white-matter changes in pure hereditary spastic paraplegia. Mov. Disord., 25: 1986–1992. doi: 10.1002/mds.23211
Potential conflict of interest: Nothing to report.
- Issue published online: 8 SEP 2010
- Article first published online: 28 JUL 2010
- Manuscript Accepted: 31 MAR 2010
- Manuscript Revised: 11 MAR 2010
- Manuscript Received: 21 DEC 2009
- hereditary spastic paraplegia;
- diffusion tensor imaging;
- white-matter changes;
Hereditary spastic paraplegias (HSP) are genetically and clinically heterogeneous neurodegenerative disorders. Most MR studies on HSP include very heterogeneous samples of patients, and findings were inconsistent. Here, we examined six patients with pure HSP and SPG4 mutations by clinical evaluation, detailed neuropsychological testing, and neuroimaging analyses, including conventional MRI, diffusion tensor imaging (DTI), and brain volumetry. Differences of voxel-wise statistics and ROI-based analysis of DTI data between patients and 32 healthy volunteers were evaluated. Although conventional MRI and brain volumetry were normal, DTI revealed widespread disturbance of white matter (WM) integrity (P < 0.001), mainly affecting the corticospinal tract. With longer disease duration, frontal regions were also involved. The WM changes were also present in subclinical subjects harbouring the pathogenic mutation. These subtle WM abnormalities have functional relevance because they correlated with clinical symptoms. Thus, early alterations of nerve fibres, which can be detected by DTI, might serve as a biological marker in HSP, in particular with respect to future longitudinal studies. © 2010 Movement Disorder Society