ObjectiveJuvenile myoclonic epilepsy (JME) is a subtype of genetically determined
generalized epilepsy that does not present abnormalities on conventional
magnetic resonance imaging. The aim of this study was to identify metabolic
alterations in the thalamus in a clinically homogeneous sample of patients
with easy-to-control JME, using short-echo time proton magnetic resonance
spectroscopy (MRS).Materials and MethodsWe performed single-voxel (2 cm × 2 cm × 2 cm), short-echo time
(TE = 35 ms) proton MRS of the thalamus in 21 patients with JME and in 14
healthy age-matched controls. We quantified N-acetylaspartate (NAA), total
NAA, creatine (Cr), choline, and myo-inositol (MI), as well as the sum of
glutamate and glutamine signals, all scaled to internal water content, and
we calculated metabolite ratios using Cr as a reference. Values of
p < 0.05 were considered significant.ResultsThe MI level and the MI/Cr ratio were significantly lower in the thalami of
patients diagnosed with JME than in those of the controls. Other metabolites
and their ratios did not differ significantly between the two groups.ConclusionIn our sample of 21 JME patients, we identified lower levels of MI in the
thalamus. No significant abnormalities were observed in the concentrations
or ratios of other metabolites.