Thalamic dysfunction in juvenile myoclonic epilepsy: A proton MRS study

Purpose: To investigate neuronal dysfunction in the thalami of patients with juvenile myoclonic epilepsy (JME) by using proton magnetic resonance spectroscopy (MRS). Methods: We performed single-voxel proton MRS over the right and the left thalami of 10 consecutive patients (five women) with JME (mean age, 31.6 years) and 10 age-matched healthy volunteers (five men). All patients had seizure onset in late childhood-teenage, normal neurologic examination, typical EEG of JME, and normal high-resolution MR imaging (MRI). We determined ratios of N-acetylaspartate (NAA) over creatine-phosphocreatine (Cr). Values <2 standard deviations from controls were considered abnormal. We performed analysis of variance to evaluate group differences. Results: Group analysis showed that thalami NAA/Cr ratios were significantly decreased in JME patients (left side, 1.58 +/- 0.26; right side, 1.5 +/- 0.15) as compared with controls (left side, 1.98 +/- 0.18; right side, 1.88 +/- 0.15; p = 0.001 and p = 0.007, respectively). Individual analysis showed that nine of the 10 patients had abnormal NAA/Cr in at least one of the thalami. Conclusions: This study shows evidence of neuronal dysfunction in the thalami of patients with JME, which may have relevance for the mechanisms of seizure generation in this form of generalized epilepsy.