Disclosure: The authors have reported no conflicts of interest.
Axonal Dysfunction in the Deep White Matter in Machado-Joseph Disease
Article first published online: 8 MAY 2008
© 2008 by the American Society of Neuroimaging
Journal of Neuroimaging
Volume 19, Issue 1, pages 9–12, January 2009
How to Cite
D'Abreu, A., França Jr, M., Appenzeller, S., Lopes-Cendes, I. and Cendes, F. (2009), Axonal Dysfunction in the Deep White Matter in Machado-Joseph Disease. Journal of Neuroimaging, 19: 9–12. doi: 10.1111/j.1552-6569.2008.00260.x
- Issue published online: 6 JAN 2009
- Article first published online: 8 MAY 2008
- Acceptance: Received February 14, 2008, and in revised form February 14, 2008. Accepted for publication February 29, 2008.
- Machado-Joseph Disease;
We evaluated spectroscopy findings at the deep white matter in Machado-Joseph disease (MJD). We obtained brain MRI and single-voxel proton MR spectroscopy (MRS) over the superior-posterior region of the left hemisphere at the level of the corpus callosum in 40 patients (44.6 ± 2.3 years-old) and 27 controls (31.4 ± 3.6 years). Four patients were excluded due to poor quality spectra. We observed a decrease in signal intensity of N-acetylaspartate relative to creatine-phosphocreatine signal (NAA/Cr) in MJD compared to control [1.63 ± 0.41 (1.15-2.76) versus 1.97 ± .51 (1.50-2.92); U test = 219.0; P < .001]. No statistical difference was observed in choline-containing compounds relative to creatine (Cho/Cr). There was no significant correlation between NAA/Cr and clinical and genetic variables. Due to the younger age of the control group, we performed a secondary analysis in a subgroup of 15 MJD patients matched by age to 15 controls. Matching was performed blindly to MRS results and subject identification, except for age and sex. A statistically significant difference was observed in NAA/Cr ratios (U test = 44.0; P= .004), as well as Cho/Cr levels (U test = 53.0; P= .014). We conclude that the metabolic abnormalities observed in the deep white matter in MJD suggest extensive neuronal and axonal dysfunction in these patients.