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Visual cortex involvement in the familial cortical myoclonic tremor with epilepsy type 1: a resting state-fMRI with regional homogeneity analysis

B. Wang, H.T Wang, Z.D Chen, W. Luo (Hangzhou, China)

Meeting: MDS Virtual Congress 2020

Abstract Number: 291

Keywords: Functional magnetic resonance imaging(fMRI), Myoclonic epilepsy, Visuospatial deficits

Category: Neuroimaging (Non-PD)

Objective: The purpose of current study was to investigate regional synchronization of the whole brain in patients with familial cortical myoclonic tremor with epilepsy (FCMTE) type 1.

Background: As is known, cortical tremor and infrequent epilepsy are two major symptoms of FCMTE, and we also found some nonmotor symptoms e.g. photophobia, sleep disorders et.al. In our previous multi-model MR study, we found significant gray matter volume loss in cerebellum and altered cerebello-motor cortex network in patients with FCMTE 1, which were considered to be features of cortical tremor. In the current study, we used regional homogeneity (ReHo) of RS-fMRI to further explore the regional synchronization of the whole brain in patients with FCMTE 1.

Method: ReHo values of 31 patients carrying heterozygous pathogenic (TTTCA)n insertion in the SAMD12 gene and 52 age- and sex-matched healthy controls were acquired from RS-fMRI. Two-sample t-test was performed to detect the ReHo difference between two groups. Correlations between the ReHo values and clinical features including both seizure features and cortical tremor features were calculated.

Results: Compared with healthy controls, patients showed significantly increased ReHo in bilateral calcarina sulcus regions ( permutation test withTFCE correction, p< 0.05, 5000 permutations). There was no correlation between ReHo value and cortical tremor features. Among seizure features, Higher ReHo values were found in patients with more frequency of epileptic attacks (more than once per year) compared with patients with lower frequency (less than or equal to once per year).

Conclusion: It is the first RS-fMRI with ReHo analysis in patients with FCMTE1.  The increased synchronization in bilateral visual cortex probably due to the photosensitive characteristics in patients with FCMTE1. In addition to the aberrant cerebello-motor network found in our previous study, the involvement of visual cortex provided novel insights into understanding the pathophysiological mechanisms of FCMTE1.

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To cite this abstract in AMA style:

B. Wang, H.T Wang, Z.D Chen, W. Luo. Visual cortex involvement in the familial cortical myoclonic tremor with epilepsy type 1: a resting state-fMRI with regional homogeneity analysis [abstract]. Mov Disord. 2020; 35 (suppl 1). https://www.mdsabstracts.org/abstract/visual-cortex-involvement-in-the-familial-cortical-myoclonic-tremor-with-epilepsy-type-1-a-resting-state-fmri-with-regional-homogeneity-analysis/. Accessed June 15, 2025.
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