Table 1.
Studies investigating asymptomatic MAPT mutation vs. controls.
| No. | Author | Year | Study design | No. of subjects | Techniques | Findings |
|---|---|---|---|---|---|---|
| 1 | Miyoshi et al. (34) | 2010 | Cross-sectional | 3 aMAPT+ vs. 9 HC | [11C] DAA1106 PET | Glial activities were increased in the frontal cortex of 1 aMAPT+, the occipital cortex of 2 aMAPT+, and the posterior cingulate cortex of 1 aMAPT+ |
| [11C]dopa PET | Low dopamine synthesis in putamen | |||||
| [11C] MP4A PET | Reduced AChE activity in the temporal, parietal cortex | |||||
| 2 | Kantarci et al. (8) | 2010 | Cross-sectional | 14 aMAPT+ vs. 24 HC | 1H MRS | Elevated mI/Cr and decreased NAA/mI in PCC voxel |
| 3 | Whitwell et al. (33) | 2011 | Cross-sectional | 8 aMAPT+ vs. 8 NC | sMRI | No difference |
| rfMRI | Reduced connectivity in the DMN | |||||
| 4 | Dopper et al. (7) | 2014 | Cross-sectional | 11 aMAPT+ vs. 8 NC | sMRI | No difference |
| DTI | Decreased FA and increased RD in bilateral uncinate fasciculi; and reduced FA in the forceps minor | |||||
| rfMRI | No difference | |||||
| 5 | Rohrer et al. (19) | 2015 | Cross-sectional | 15 aMAPT+ vs. 8 NC | sMRI | Atrophy in the hippocampus, amygdala, temporal lobe, and insula |
| 6 | Dopper et al. (35) | 2016 | Longitudinal | 11 aMAPT+ vs. 31 NC | ASL | No difference |
| 7 | Fumagalli et al. (20) | 2018 | Cross-sectional | 24 aMAPT+ vs. 148 NC | sMRI | No difference |
| 8 | Cash et al. (6) | 2018 | Cross-sectional | 23 aMAPT+ vs. 144 NC | sMRI | No difference |
| 9 | Jiskoot et al. (36) | 2018 | Cross-sectional | 17 aMAPT+ vs. 115 NC | DTI | Reduced FA and increased diffusivity in the uncinate fasciculus and cingulum |
| 10 | Jones et al. (37) | 2018 | Cross-sectional | 3 aMAPT+ vs. 241 HC | 18F-AV-1451 tau PET | Low level of uptake in 1 asymptomatic N279K mutation carrier; little to no signal in 1 R406W mutation carrier, high uptake in 1 R406W mutation carrier |
| 11 | Panman et al. (22) | 2019 | Longitudinal | 14 aMAPT+ vs. 53 NC | sMRI | Baseline: No difference Follow-up: lower GM volume in the left temporal pole, a trend toward cortical thinning of the right inferior temporal lobe; Longitudinal: GM volume decline in the hippocampus |
| 14 aMAPT+ vs. 50 NC | DTI | No difference | ||||
| 12 | Chen et al. (38) | 2019 | Longitudinal | 12 aMAPT+ vs. 20 NC | DTI | Baseline: higher MD in entorhinal WM |
| 10 aMAPT+ vs. 10 NC | Longitudinal: accelerated annualized change of entorhinal MD | |||||
| 13 | Chen et al. (23) | 2019 | Longitudinal | 14 aMAPT+ (include 4 converters) vs. 23 NC | sMRI | Faster rates of atrophy in temporal lobe in aMAPT+Increased atrophy rates in the temporal, frontal and parietal lobes in MAPT+ converters |
| 14 | Chen et al. (39) | 2019 | Cross-sectional | 9 aMAPT+ vs. 25 NC | 1H MRS | Lower NAA/Cr and lower NAA/mI in the frontal lobe |
| 15 | Chen et al. (40) | 2019 | Longitudinal | 8 MAPT+ converters | 1H MRS | NAA/mI ratio decreasing and mI/Cr ratio increasing accelerated 2 years before symptom onset |