Abstract

Background and Objectives. Juvenile myoclonic epilepsy (JME) is an idiopathic generalized epileptic syndrome, with a genetic basis clinically identified by myoclonic jerks of the upper limbs upon awaking, generalized tonic-clonic seizures and less frequent absences. Although the brain magnetic resonance imaging (MRI) is by definition normal, computer-based Voxel-Based morphometry studies have shown a number of volumetric changes in patients with juvenile myoclonic epilepsy. Thus, the aim of the present Voxel-Wise Meta-Analysis was to determine the most consistent regional differences of gray matter volume between JME patients and healthy controls. Materials and Methods. The initial search returned 31 studies. After excluding reviews and studies without control groups or without detailed peak coordinates, 12 studies were finally included in the present meta-analysis. The total number of JME patients was 325, and that of healthy controls was 357. Results. Our study showed a statistically significant increase of the gray matter in the left median cingulate/paracingulate gyri, the right superior frontal gyrus, the left precentral gyrus, the right supplementary motor area and left supplementary motor area. It also showed a decrease in the gray matter volume in the left thalamus, and in the left insula. Conclusions. Our findings could be related to the functional deficits and changes described by previous studies in juvenile myoclonic epilepsy. In this way, the volumetric changes found in the present study could be related to the impaired frontal lobe functions, the emotional dysfunction and impaired pain empathy, and to the disrupted functional connectivity of supplementary motor areas described in JME. It additionally shows changes in the volume of the left thalamus, supporting the theory of thalamocortical pathways being involved in the pathogenesis of juvenile myoclonic epilepsy.

Highlights

  • Juvenile myoclonic epilepsy (JME) is a common syndrome of idiopathic generalized epilepsy, with a prevalence of 4–10% among all epileptic syndromes [1]

  • For the purpose of the present study, we conducted a search in the online databases of PubMed, Cochrane library, Web of Science and BrainMap using the keywords [“juvenile myoclonic epilepsy” OR “JME”] AND [“voxel-based”, OR “morphometry” OR “voxel-based morphometry (VBM)”]

  • Our meta-analysis showed increased gray matter in JME patients compared to controls in the left median cingulate/paracingulate gyri (Brodmann area 23, SMD-Z: 1.404, p = 0.0002, Voxels: 820, Montreal Neurological Institute (MNI) Coordinates: −4, −6, 42), the right superior frontal gyrus (Brodmann area 10, SMD-Z: 1.446, p = 0.0002, Voxels: 530, MNI coordinates: 20, 60, 18), the left precentral gyrus (Brodmann area 6, SMD-Z: 1.093, p = 0.0017, Voxels: 186, MNI coordinates: −20, −20, 66), the right supplementary motor area (Brodmann area 6, Seed-based d Mapping (SDM)-Z: 1.135, p = 0.0013, Voxels: 152, MNI Coordinates: 8, 10, 60) and left supplementary motor area (Brodmann a5reoaf 69, SDM-Z: 1.139, p = 0.0013, Voxels: 72, MNI Coordinates: −8, 12, 68) (Figure 2A,B)

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Summary

Introduction

Juvenile myoclonic epilepsy (JME) is a common syndrome of idiopathic generalized epilepsy, with a prevalence of 4–10% among all epileptic syndromes [1]. Our findings could be related to the functional deficits and changes described by previous studies in juvenile myoclonic epilepsy In this way, the volumetric changes found in the present study could be related to the impaired frontal lobe functions, the emotional dysfunction and impaired pain empathy, and to the disrupted functional connectivity of supplementary motor areas described in JME. The volumetric changes found in the present study could be related to the impaired frontal lobe functions, the emotional dysfunction and impaired pain empathy, and to the disrupted functional connectivity of supplementary motor areas described in JME It shows changes in the volume of the left thalamus, supporting the theory of thalamocortical pathways being involved in the pathogenesis of juvenile myoclonic epilepsy

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