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Nerve fiber impairment of anterior thalamocortical circuitry in juvenile myoclonic epilepsy

From the Departments of Neurology (M.D., C.K., T.D., G.M., S.M., E.B.R., S.K.) and Clinical Radiology (H.S., H.K.), University of Münster; Department of Neurology (C.K.), Klinikum Osnabrück; Department of Neurology (K.D.), Franzhospital Dülmen, Germany; and The Magnetic Resonance and Image Analysis Research Centre (MARIARC) (S.S.K.), University of Liverpool, UK.

Address correspondence and reprint requests to Priv.-Doz. Dr. rer. medic. Michael Deppe, Department of Neurology, University of Muenster, Albert-Schweitzer-Str. 33, 48129 Muenster, Germany mail{at}Michael-Deppe.de

Background: Juvenile myoclonic epilepsy (JME) is a syndrome of idiopathic generalized epilepsy (IGE) without structural brain abnormalities detectable by MRI or CT.

Objective: In the present study, we addressed the question of whether diffusion tensor MRI (DTI) can detect disease-specific white matter (WM) abnormalities in patients with JME.

Methods: We performed whole head DTI at 3 T in 10 patients with JME, 8 age-matched patients with cryptogenic partial epilepsy (CPE), and 67 age-matched healthy volunteers. Nerve fiber integrity was compared between the groups on the basis of optimized voxel-by-voxel statistics of fractional anisotropy (FA) maps obtained by DTI (analysis of covariance, categorical factor "group," covariate "age").

Results: FA was reduced in a WM region associated with the anterior thalamus and prefrontal cortex in patients with JME compared to both control subjects and patients with CPE (p < 0.001). The patients with CPE showed normal values in this particular WM region. The FA reductions in the patients with JME correlated with the frequency of generalized tonic-clonic seizures (Spearman R = 0.54, p = 0.05). No significant correlations were found in the JME sample between FA reduction and the duration of antiepileptic medication.

Conclusions: The results support the hypothesis that juvenile myoclonic epilepsy is associated with abnormalities of the thalamocortical network that can be detected by diffusion tensor MRI.

CPE = cryptogenic partial epilepsy; DTI = diffusion tensor imaging; EPI = echoplanar imaging; FA = fractional anisotropy; GMC = gray matter concentration; GTCS = generalized tonic-clonic seizures; IGE = idiopathic generalized epilepsy; JME = juvenile myoclonic epilepsy; MNI = Montreal Neurological Institute; ROI = region of interest; VBM = voxel based morphometry; WM = white matter.

Supplemental data at www.neurology.org

*These authors contributed equally.

Supported by the transregional Collaborative Research Centre SFB/TR 3 (Project A8) of the Deutsche Forschungsgemeinschaft (DFG), by grants of the Stiftung Neuromedizin-Medical Foundation, Germany, and by the Bundesministerium für Forschung und Bildung (BMBF 016W0520).

Disclosure: The authors report no disclosures.

Received July 20, 2007. Accepted in final form September 15, 2008.