Gray Matter Loss and Related Functional Connectivity Alterations in A Chinese Family With Benign Adult Familial Myoclonic Epilepsy

Abstract

Benign adult familial myoclonic epilepsy (BAFME) is a non-progressive monogenic epilepsy syndrome. So far, the structural and functional brain reorganizations in BAFME remain uncharacterized. This study aims to investigate gray matter atrophy and related functional connectivity alterations in patients with BAFME using magnetic resonance imaging (MRI).Eleven BAFME patients from a Chinese pedigree and 15 matched healthy controls were enrolled in the study. Optimized voxel-based morphometric and resting-state functional MRI approaches were performed to measure gray matter atrophy and related functional connectivity, respectively. The Trail-Making Test-part A and part B, Digit Symbol Test (DST), and Verbal Fluency Test (VFT) were carried out to evaluate attention and executive functions.The BAFME patients exhibited significant gray matter loss in the right hippocampus, right temporal pole, left orbitofrontal cortex, and left dorsolateral prefrontal cortex. With these regions selected as seeds, the voxel-wise functional connectivity analysis revealed that the right hippocampus showed significantly enhanced connectivity with the right inferior parietal lobule, bilateral middle cingulate cortex, left precuneus, and left precentral gyrus. Moreover, the BAFME patients showed significant lower scores in DST and VFT tests compared with the healthy controls. The gray matter densities of the right hippocampus, right temporal pole, and left orbitofrontal cortex were significantly positively correlated with the DST scores. In addition, the gray matter density of the right temporal pole was significantly positively correlated with the VFT scores, and the gray matter density of the right hippocampus was significantly negatively correlated with the duration of illness in the patients.The current study demonstrates gray matter loss and related functional connectivity alterations in the BAFME patients, perhaps underlying deficits in attention and executive functions in the BAFME.

Altered cerebellar‐cerebral functional connectivity in benign adult familial myoclonic epilepsy

“…No subjects were removed from the study because of excessive motion (>2 mm translation and >2° rotation). There were no significant differences between the two groups in the means of motion measures . All of the subjects were right‐handed native Chinese speakers.…”

“…The findings of those studies suggest that the relationship between cerebellar pathologic changes and brain hyperexcitability may play an important role in the pathogenesis of BAFME. In our previous study, we demonstrated gray matter loss and related functional connectivity (FC) changes in BAFME . Therefore, we hypothesized that brain network abnormalities may exist in patients with BAFME, especially abnormal FC between the cerebellum and cerebrum.…”

Inferring distinct mechanisms in the absence of subjective differences: Placebo and centrally acting analgesic underlie unique brain adaptations

“…Studies about brain plasticity often search for GMD or functional connectivity differences as a single outcome of pathology or due to a treatment (Draganski, Kherif, & Lutti, ; Johansen‐Berg, ). Different groups are now investigating one brain modality in regard to the other one, for example, after identifying a region of GMD differences between healthy controls and the studied population, this ROI is then used as a seed for a post‐hoc functional analysis (Ko et al, ; Kraus et al, ; Stoeckel, Chai, Zhang, Whitfield‐Gabrieli, & Evins, ; Zeng et al, ). This approach has the advantage of refining one of the analyses, but might neglect differences that could have been observed in the second modality.…”

Familial Cortical Myoclonic Tremor and Epilepsy, an Enigmatic Disorder: From Phenotypes to Pathophysiology and Genetics. A Systematic Review

“…- Other findings include migraine, 15 – 18 ophthalmic migraine, 37 headaches, 40 logopenic syndrome, 67 visual intolerance, 61 frontal dysfunction, 61 night blindness, 68 motionless state, 69 absence seizures, 18 parkinsonism, 48 reduced verbal fluency, 70 sensitivity to glucose deprivation or vibration as an aggravating factor, 37 , 38 and visuospatial impairment. 9 , 52 …”

“…2p, 8q 1 H-MRS 12 FCMTE, 12 HS, Neurochemical ratios NAA/Cho ratio ⬇ n.a. Zeng et al 70 Chinese, excl. 2p, 8q RS fMRI + VBM 11 FCMTE, 15 HS n.d. Gray matter: R hippocampus; R temporal ⬇ Gray matter; Functional connectivity L orbitofrontal; L prefrontal ⬇ FC: R hippocampus with R parietal ⬆ cingulate, L precuneus, L precentral gyrus ⬆ Wang et al 55 Chinese, n.d. RS fMRI 7 FCMTE, 7 ET, 10 HS n.d. R fusiform gyrus; cingulate ⬇ BOLD; ALFF Frontal lobe ⬆ Abbreviations: ALFF, Amplitude Of Low Frequency Fluctuation; AN, Attention Network; BOLD, Blood-Oxygen-Level Dependent; Cho, Choline; CN, Control Network; Cr, Creatinine; DAT, Dopamine Transporter; DAT-SPECT: Dopamine Transporter, Single Photon Emission Computed Tomography; DN, Default Network; DTI, Diffusion Tensor Imaging; ET, Essential Tremor; excl, Exclusion; FCMTE, Familial Cortical Myoclonus Tremor And Epilepsy; FC, Functional Connectivity; HS, Healthy Subjects; 1 H-MRS, Proton Magnetic Resonance Spectroscopy; L, Left; MDV, Mean Diffusivity Volume; MRI, Magnetic Resonance Imaging; n, Number; n.a., No Abnormalities; NAA, n-Acetylaspartate; n.d., Not Done; R, Right; RS fMRI, Resting State Functional Magnetic Resonan...…”