Abstracts

Rationale: Our aim was to investigate the proton MR spectroscopy (MRS) findings of Lafora Disease (LD), which is a disabling form of progressive myoclonic epilepsy. Methods: Twelve patients diagnosed with LD having EPM2B or EPM2A mutations and 12 control subjects were underwent MRS studies with single-voxels of 8 cc obtained in the frontal lobe, pons and cerebellum. The NAA/Cr, NAA/Cho, Cho/Cr ve mI/Cr ratios were calculated. The severity of the neurological symptoms was scored by 2 investigators. Results: We found a statistically significant reduction of the NAA/Cho ratio in LD patients more pronounced in the group with EPM2B mutation with respect to normal controls in cerebellum (p: 0.039). In addition, both myoclonus and ataxia scores showed significant correlation with NAA/Cho ratios in the pons (p: 0.028, p: 0.04) and in the cerebellum (p: 0.036, p: 0.01) respectively. Conclusions: 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.