Category: Neuroimaging (Non-PD)
Objective: To explore the mechanism of prominent visual-related symptoms and photosensitivity, and to investigate alterations of local brain activity and visual-related networks using resting-state functional magnetic resonance imaging (RS-fMRI) in patients with genetically confirmed FCMTE1.
Background: In familial cortical myoclonic tremor with epilepsy (FCMTE), photic stimulation can trigger visual-related symptoms and induce a photoparoxysmal response (PPR) on electroencephalography (EEG). This is known as photosensitivity.
Method: RS-fMRI data and EEG data were collected from 31 patients carrying the heterozygous pathogenic intronic pentanucleotide (TTTCA)n insertion in the sterile alpha motif domain-containing 12 gene and from 52 age- and sex-matched healthy controls. Regional homogeneity (ReHo) and degree centrality (DC) methods were used to analyze the spontaneous neural activities. Seed-based functional connectivity (FC) was applied to assess distant brain networks. Independent component analysis (ICA) further evaluated the intrinsic connectivity in visual networks. Correlations between magnetic resonance indices and clinical parameters and PPR grades were also studied.
Results: Both ReHo and DC values in the bilateral calcarine sulcus were significantly increased in FCMTE1 patients compared with HCs. When the calcarine sulcus area with increased ReHo was taken as a seed, increased FC values were observed in the right precentral gyrus, while decreased FC values were observed in the right superior frontal gyrus and right inferior parietal lobule. ICA analysis showed increased connectivity in the left calcarine sulcus inside the medial visual network. In addition, a high prevalence (87.5%) of photosensitivity was found in patients. Correlation analysis revealed significant positive correlation between ReHo values and frequency of seizure, and PPR grades were positively correlated with the severity of cortical tremor and duration of epilepsy.
Conclusion: The findings of aberrant brain activity in the primary visual cortex, the altered primary visual network, and abnormal distant visual-related networks, including the visual-motor network and the dorsal visual pathway, provide strong evidence for the interpretation of visual-related symptoms and photosensitivity in FCMTE.
To cite this abstract in AMA style:
H. Wang, B. Wang, Z. Cen, J. Wang, Y. Zang, D. Yang, Y. Ding, S. Wang, S. Wu, W. Luo. Aberrant visual-related networks in familial cortical myoclonic tremor with epilepsy [abstract]. Mov Disord. 2022; 37 (suppl 2). https://www.mdsabstracts.org/abstract/aberrant-visual-related-networks-in-familial-cortical-myoclonic-tremor-with-epilepsy/. Accessed May 13, 2025.« Back to 2022 International Congress
MDS Abstracts - https://www.mdsabstracts.org/abstract/aberrant-visual-related-networks-in-familial-cortical-myoclonic-tremor-with-epilepsy/