Altered intrinsic brain activity in patients with familial cortical myoclonic tremor and epilepsy: An amplitude of low-frequency fluctuation study

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

“… 70 In a resting state fMRI study, compared to ET and healthy controls, the right fusiform gyrus and the posterior cingulate cortex showed decreased amplitude of low-frequency fluctuation (ALFF), and the frontal lobe showed increased ALFF that correlated with disease duration. 55 In two FCMTE patients with gait difficulties but no benefit from L-dopa in one, MRI showed frontal atrophy and single positron emission computed tomography (SPECT) showed dopamine depletion. 61 In a FCMTE patient with a language disorder and short-term memory problems, MRI showed frontal atrophy and SPECT indicated loss of dopamine transporters in the left striatum.…”

“… 1 Since 2011, 70 additional pedigrees in 33 publications, including 48 from India, have been extensively described (providing clinical and electrophysiological data, Table 2 ). 16 – 18 , 21 , 27 , 40 , 41 , 43 , 46 – 48 , 55 – 59 Descriptions of the pedigrees comply with autosomal dominant inheritance. The reports used uniform criteria for diagnosing FCMTE, and one paper explicitly stated they used the diagnostic criteria from our last review.…”

“…The reports used uniform criteria for diagnosing FCMTE, and one paper explicitly stated they used the diagnostic criteria from our last review. 55 The reports vary in detail in their description of the neurological examination, the presence or absence of cerebellar signs, of cognitive assessment, comorbid psychiatric disorders, effect of anti-epileptic drugs on tremor/epileptic seizures, drug dosage, clinical anticipation, structural imaging, and electrophysiological investigation including jerk-locked back averaging (JLA). Owing to insufficient clinical/electrophysiological data, several new families were not included in Table 2 .…”

“… 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 Resonance Imaging; VBM, Voxel Based Morphometry; ⬆ Increase; ⬇ Decrease. …”

Altered spontaneous brain activity patterns in patients with neovascular glaucoma using amplitude of low‐frequency fluctuations: A functional magnetic resonance imaging study

“…It has been confirmed that ALFF performed moderately to well in test–retest reliability (Dai et al., 2015; Zuo et al., 2010). ALFF is a reliable biomarker for many nervous system diseases, including Parkinson's disease (Hu et al., 2015), epilepsy (Wang et al., 2015), and schizophrenia (Zhang et al., 2018). In addition, there are many fMRI studies that have used ALFF to analyze the changes in spontaneous brain activity patterns in some ophthalmic illnesses, such as strabismus, optic neuritis, monocular blindness, retinal detachment, and retinal vein occlusion (Huang, Cai, et al, 2015; Li et al., 2016; Min et al., 2018; Shi et al., 2019; Wu et al., 2019) (Table 1).…”