This study suggests that functional connectivity changes in certain nodes of brain networks might contribute to depression in patients with PD.

We provided the clinical and neurophysiological features of familial cortical myoclonic tremor with epilepsy patients. This study is reported for the presentation of this rare disease in a Chinese population with the largest single report on familial cortical myoclonic tremor with epilepsy worldwide. Age-at-onset anticipation of cortical tremor with paternal transmission was statistically significant, which further confirmed a possibility of unstable expanding repeat in the genetic mechanism of familial cortical myoclonic tremor with epilepsy. © 2016 International Parkinson and Movement Disorder Society.

BackgroundIntronic pentanucleotide insertion in the sterile alpha motif domain‐containing 12 gene was recently identified as the genetic cause of familial cortical myoclonic tremor with epilepsy type 1.ObjectivesWe thereafter conducted a multimodal MRI research to further understand familial cortical myoclonic tremor with epilepsy type 1.MethodsWe enrolled 31 patients carrying heterozygous pathogenic intronic pentanucleotide insertion in the sterile alpha motif domain‐containing 12 gene and 31 age‐ and sex‐matched healthy controls. We compared multimodal MRI metrics, including voxel‐based morphometry, fractional anisotropy of diffuse tensor imaging, frequency‐dependent percent amplitude fluctuation, and seed‐based functional connectivity of resting‐state functional MRI.ResultsSignificant decreased gray matter volume was found in the cerebellum. Percent amplitude fluctuation analysis showed significant interaction effect of “Frequency by Group” in three regions, including the vermis VIII, left cerebellar lobule VIII, and left precentral gyrus. Specifically, the lowest‐frequency band exhibited significant increased percent amplitude fluctuation in patients in the two cerebellar subregions, whereas the highest‐frequency band exhibited decreased percent amplitude fluctuation in the precentral gyrus in patients. Discriminative analysis by support vector machine showed a mean accuracy of 82% (P = 1.0–5). An increased functional connectivity between vermis VIII and the left precentral gyrus was found in patients with familial cortical myoclonic tremor with epilepsy type 1. A positive correlation between the percent amplitude fluctuation in the left cerebellar lobule VIII and duration of cortical tremor was also found.ConclusionThe cerebellum showed both structural and functional damages. The distinct change of spontaneous brain activity, that is, increased ultra‐low‐frequency amplitude in the cerebellum and the decreased higher‐frequency amplitude in the motor cortex, might be a pathophysiological feature of familial cortical myoclonic tremor with epilepsy type 1. © 2020 International Parkinson and Movement Disorder Society

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3 Technical Efficacy: Stage 3 J. MAGN. RESON. IMAGING 2017;46:697-703.