PMC7078674_01
Brain imaging and gene detection of the patient. (A) The patient's MRI from the first year revealed a mild atrophy of the whole cerebral cortex and bilateral hippocampus dominated in the bilateral frontal lobes, basal ganglia and brainstem (time of repeatation(TR): 9.8, time of echo(TE): 5.8, at age 50). (B) The patient's MRI from the second year revealed more atrophy of the whole cerebral cortex and bilateral hippocampus than the first MRI (TR: 9.8, TE: 4.6, at age 51). (C) The patient's MRI from the third year revealed moderate atrophy of the whole cerebral cortex with frontal lobes more affected and bilateral hippocampus (TR: 9.8, TE: 4.6, at age 52). (D) 11C-PIB PET revealed increased PIB uptake in diffuse cortical areas (at age 52). (E) The ReHo analysis of BOLD functional imaging data showed decreased ReHo (blue) in the frontal lobes. (F) DNA sequence at the locus of rs429358 and rs7412 of APOE gene from the patient. The red arrow indicates T/C heterozygote and C/C homozygote of two single nucleotide polymorphisms (SNPs), respectively (rs429358 and rs7412). APOE, apolipoprotein E; BOLD, blood oxygen level-dependent; PIB, Pittsburgh compound B; ReHo, regional homogeneity.
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F1
She went to a local hospital for testing, and her first MRI scan in February of 2012 revealed mild global atrophy of the cerebral cortex and bilateral hippocampi, with frontal lobe predominance (figure 1A at age 50). Her second MRI, performed in May of 2013, revealed increased global atrophy of the cerebral cortex and bilateral hippocampi when compared with the first MRI (figure 1B at age 51). This was reflected on the third MRI which revealed moderate global atrophy of the cerebral cortex with frontal lobe predominance and bilateral hippocampi shrinkage, leading to suspicion of FTD in March of 2014(figure 1C at age 52). The direct sequencing showed T/C heterozygous form at the locus of rs429358 and C/C homozygous form at rs7412, which identified APOE e3/ e4 genotype (figure 1F). The regional homogeneity (ReHo) analysis of blood oxygen level-dependent (BOLD) functional imaging data showed decreased ReHo (blue) in frontal lobes (figure 1E). This revealed elevated PIB binding in diffuse cortical areas, particularly in the bilateral frontal, parietal, occipital, temporal cortices and posterior cingulated gyrus (figure 1D).