• Ebru Altindag, Batuhan Kara, Betul Baykan, Ege Terzibasioglu, Serra Sencer, Levent Onat, and Mustafa Sirvanci.
• Department of Neurology, Istanbul Medical Faculty, Istanbul University, Istanbul, Turkey.
• J Neuroimaging. 2009 Oct 1; 19 (4): 359-65.

PurposeOur aim was to investigate the [(1)H] MR spectroscopy (MRS) findings of Lafora Disease (LD), which is a disabling form of progressive myoclonic epilepsy.MethodsTwelve 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.ResultsWe 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.ConclusionWe 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.

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