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Updated: Jun 27, 2026
Diffusion Tensor Magnetic Resonance Imaging in the Analysis of Neurodegenerative Diseases
Published on: July 28, 2013
MR spectroscopy findings in Lafora disease
Ebru Altindag1, Batuhan Kara, Betul Baykan
1Department of Neurology, Istanbul Medical Faculty, Istanbul University, Istanbul, Turkey.
Purpose:
Our aim was to investigate the [(1)H] MR spectroscopy (MRS) findings of Lafora Disease (LD), which is a disabling form of progressive myoclonic epilepsy.
Methods:
Twelve patients diagnosed with LD and 12 control subjects underwent MRS studies with single-voxels of 8 cc obtained in the frontal lobe, pons, and cerebellum. The metabolites and NAA/Cr, NAA/Cho, Cho/Cr, mI/Cr ratios were calculated. Subgroup analysis was also done between 5 patients with EPM2B and 6 patients with EPM2A mutations. Two investigators scored neurological symptom severity.
Results:
We found a statistically significant difference of NAA/Cho ratio in LD patients compared with normal controls in cerebellum (P= 0.04). In addition, both myoclonus and ataxia scores showed significant correlation with NAA/Cho ratios in the pons (P= 0.03, P= 0.04) and in the cerebellum (P= 0.04, P= 0.01), respectively.
Conclusion:
We conclude that the cerebellum is the mostly affected structure in LD and there are significant correlations of MRS findings with some clinical parameters. The differences in the group may be related to different genetic mutations besides disease duration and other clinical variables. MRS studies could provide insights about the severity of the involvement of LD.
