MRS shows syndrome differentiated metabolite changes in human-generalized epilepsies

While it is generally accepted that the thalamo-cortical loop is abnormal in idiopathic generalized epilepsy (IGE), it is uncertain whether this loop is similarly affected among different IGE syndromes. We recently demonstrated reduced frontal lobe levels of N-acetyl aspartate (NAA) in patients with juvenile myoclonic epilepsy (JME). The present follow-up study investigates if similar or other types of changes exist in subjects with pure primarily generalized tonic clonic epilepsy (GTCS).

Twenty patients with GTCS, 26 patients with JME, and 10 matched healthy controls were investigated with quantitative single voxel MR spectroscopy (MRS) measurements of NAA, choline (Cho), creatine (Cr), and myo-inositol (mI) at 1.5 T scanner. The voxels were placed over the right cerebellum, right thalamus, prefrontal, occipital cortex, and over a spherical phantom above the subject's head.

Patients with JME had reduced frontal lobe NAA (mmol/l) in relation to controls (9.8 +/- 1.1 vs. 10.8 +/- 0.7, P = 0.01), as well as GTCS patients (9.8 +/- 1.1 vs. 10.6 +/- 0.7, P = 0.007), whose values were normal. Patients with GTCS, on the other hand, showed significantly lower thalamic NAA than controls (9.7 +/- 1.0 vs. 10.8 +/- 0.9, P = 0.002), and both groups of patients had reduced thalamic Cho, and mI; [CHO: 2.0 +/- 0.4 (control) vs. 1.61 +/- 0.3 (JME) P = 0.001, and vs. 1.57 +/- 0.3 (GTCS) P = 0.0005; MI: 4.8 +/- 1.5 (control) vs. 3.3 +/- 1.4 (JME) P = 0.003, and vs. 3.2 +/- 1.5 (GTCS), P = 0.002]. No other regional changes were observed.

The present MRS data emphasize the involvement of thalamus in IGE. They also show partly differentiated alterations within the thalamo-cortical loop in JME vs. GTCS. The various clinical expressions of IGE may, thus, be associated with more localized neuroanatomical substrates than generally believed.