PMC9671219_01
Cranial magnetic resonance imaging in patients with Alzheimer's disease: (A) sagittal image of T2 fluid attenuated inversion recovery (T2 FLAIR); (B) coronal image of T1-weighted image (T1WI); (C) cross-sectional sequences of T2-weighted image (T2WI); imaging results showed atrophy of bilateral temporal parietal lobe and posterior cingulate gyrus, and dilatation of ventricle, cistern, fissure, and sulci.
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F1
Brain magnetic resonance imaging (MRI) (November 23, 2020) showed atrophy of the bilateral temporoparietal and posterior cingulate gyrus, and widening of the ventricles, cisterna, brain fissures, and brain sulci (Figure 1).
Multimode molecular imaging of 18-fluoro-2-deoxy-D-glucose positron emission tomography (18F-FDG PET-CT) showed reduced multiple hypometabolism in the bilateral parietal and temporoparietal junction, bilateral temporal lobes (left), and posterior cingulate gyrus (AA': cross-sectional sequence; BB': coronal image; CC': sagittal image).
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F2
Multimodal molecular imaging of 18-fluoro-2-deoxy-D-glucose positron emission tomography (18F-FDG PET-CT) results suggested the multiple hypometabolism in the bilateral parietal and combined temporoparietal areas, bilateral temporal lobes, and posterior cingulate gyrus (Figure 2).
Whole-genome sequencing (WGS) and repeated primer PCR detection results of the patient (A), his mother (B), and daughter (C) the patient carried heterozygous missense mutation of TBK1 c. 704A>T (p. Tyr235phe); however, his daughter and mother were wild type.
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F3
Molecular genetic screening was performed by whole-genome sequencing and repeat primer PCR: the patient carried a TBK1 c.704 A>T (p.Tyr235Phe) heterozygous mutation (Figure 3) with an APOE genotype of epsilon2/epsilon4.