Table 4. Imaging Findings across Pedigrees.
| Reference | Origin, Linkage | Imaging Modality | Design | Cerebellum | Other Findings in FCMTE |
|---|---|---|---|---|---|
| Buijink et al.53 | Dutch, 5p | MRI (VBM) | 8 FCMTE, 45 ET, 39 HS | Total volume; Crus I; lobules IX, X ⬇ | n.d. |
| Total/local cerebellar volume | |||||
| Buijink et al.51 | Dutch, 5p | MRI (DTI) | 7 FCMTE, 8 ET, 5 HS | Cerebellum ⬇ | n.d. |
| Fractional anisotropy; MDV | |||||
| Magnin et al.67 | French, 5p | DAT-SPECT, MRI | Case report (n:1) | Atrophy: cerebellum ⬇ | Atrophy: cortical structures ⬇ |
| Magnin et al.61 | Case report (n:2) | DAT: striatum; cortical perfusion ⬇ | |||
| Striano et al.79 | Italian, 2p | 1H-MRS | 11 FCMTE, 11 HS, Neurochemical ratios | Cho/Cr ratio ⬆ | n.a. |
| Long et al.52 | Chinese, excl. 2p, 8q | RS fMRI (BOLD) | 11 FCMTE, 15 HS | DN: R crus I with L frontal + R lobule IX ⬇ | n.d. |
| Functional connectivity | AN: L lobule VIII with temporal, | ||||
| R putamen and L crus I ⬆ | |||||
| CN: L lobule VIIb and R frontal ⬆ | |||||
| Long et al.65 | Chinese, excl. 2p, 8q | 1H-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; 1H-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.