Table 4.
Functional brain imaging in DM1.
| Study | Modality | Estimated parameters | Group size | Age (M ±SD) [years] | Disease duration (M ±SD) [years] | CTG repeat length (range or M ±SD) | Correlation parameters |
|---|---|---|---|---|---|---|---|
| Hashimoto et al. (79) | 1.5T 1H-MRS (STEAM) TE 270 ms | ROI: parietal (NAA/Cho, NAA/Cr, Cho/Cr) | 5 (congenital) | 7.3 ± 5.5 | congenital | - | Age (+) |
| Chang et al. (70) | 1.5T 1H-MRS (PRESS) TE 30 ms | ROI: midoccipital GM + temporo-parietal GM left NAA, Cr Cho, myoinositol | 14 | 37.8 ± 2.7 | 13.8 ± 3.5 | 173–1434 | CTG (+), NPT |
| Akiguchi et al. (71) | 1.5T 1H-MRS (STEAM) TE 19 ms | ROI: Insula (NAA/Cho, NAA/Cr, Cho/Cr) | 21 (no congenital) | 37.0 ± 13.6 | 11.2 ± 7.6 | (+) | Age |
| Vielhaber et al. (72) | 1.5T 1H-MRS (PRESS) TE 135 ms | ROI: frontal WM + midoccipital GM + temporo-parietal NAA, Cho, Cr | 14 (no congenital/juvenile onset) | 38.8 ± 9.1 | - | 250–750 | Age, age at onset, disease duration, NPT, CTG |
| Takado et al. (73) | 3T 1H-MRS 1H-MRSI (PRESS) TE 30 ms, 144 ms | ROI: ant. cingulate gyrus, frontal WM, Slices BG level, (tNAA, tCho, Cr, MI, Glu, Gln, Glx, NAA/Cho, NAA/Cr, Cho/Cr) | 13 | 43.6 ± 12.6 | 11.8 ± 9.0 | 685 ± 462 | NPT (+), CTG (+) |
| Caramia et al. (32) | 1.5T fMRI | self-paced sequential finger-to-thumb opposition task (right hand) | 15 | 36.3 ± 12.3 | 15.4 ± 12 | 96–1570 | Age (+), disease duration, MIRS score, WMHL-load |
| Toth et al. (74) | 3T fMRI | myotonia-inducing grip task prior and after warm-up procedure | 16 | 47.9 ± 8.0 | 18.3 ± 9.0 | + | - |
| Serra et al. (36) | 3T rsfMRI | DMN functional connectivity | 27 (no congenital) | 39 ± 11.8 | - | 54–2000 | Personality traits/disorders (+) |
| Serra et al. (80) | 3T rsfMRI | theory of mind-network functional connectivity/graph theory | 20 (no congenital) | 43.9 ± 10.7 | - | 150–1200 | - |
| Serra et al. (82) | 3T rsfMRI | functional connectivity/graph theory | 31 (no congenital) | 39.9 ± 11.4 | - | 54–2000 | MIRS (+), CTG, NPT (+) |
| Park et al. (75) | 3T rsfMRI | sensorimotor network functional connectivity/power spectral density | 18 (adult-onset) | 44.4 ± 10.7 | 13.4 ± 2.0 | 374 ± 66 | Motor performance (+), CTG (+), disease duration (+) |
| Krogias et al. (76) | ultrasound | echogenicity of basal ganglia/mesencephalic regions, ventricle diameters | 17 | 39 ± 15 | 17 ± 6 | 75–1000 | Age (+), CTG (+), daytime sleepiness (+), depression |
| Peric et al. (77) | ultrasound | echogenicity of basal ganglia/mesencephalic regions, ventricle diameters | 61 (no congenital) | 41.2 ± 10.3 | 18.9 ± 8.6 | 747 ± 280 | Sex (+), disease duration (+), CTG, MIRS, depression (+) fatigue (+), RLS |
All included studies investigated patients in comparison with controls. Cho, choline; Cr, creatine; CTG, CTG repeat length; DMN = default mode network; fMRI, functional MRI; Gln, Glutamin; Glu, Glutamate; Glx, Glu+Gln; GM, gray matter; MI, myo-inositol; MIRS, Muscular Impairment Rating Scale; MRS, magnetic resonance spectroscopy; NAA, N-acetyl aspartate; NPT, neuropsychological tests; PRESS, point resolved spectroscopy (MR pulse sequence); ROI, region of interest; rsfMRI, resting state functional MRI; SE, spin echo technique; STEAM, stimulated echo acquiring method (MR pulse sequence); tCho, glycerophosphcholine + phosphocholine; tNAA, NAA + N-Acetylaspartylglutamate; WMHL, white matter hyperintensive lesions; (+), positive or negative correlation was found.