Novel PSEN1 (Q223 L) mutation causes early-onset Alzheimer’s disease: A case report

Figure 1  Sequencing chromatograms showing the presence of the Q223 L mutation in the proband (II-2) and his non-demented 28-year-old son (III-1).

Figure 2 Family pedigree of the patient with the Q223 L mutation. The arrow (p) indicates the proband. Black filled symbols denote affected patients, and white filled symbols denote unaffected family members. M: Q223 L mutation; N: Wild type.

Figure 3 Cranial magnetic resonance imaging scans of the proband. A: Cranial magnetic resonance imaging (MRI) showed diffuse cerebral cortical atrophy, most prominently in the bilateral medial temporal lobes; B: Cranial MRI showed hyperintense lesion in the bilateral white matter in T2 weighted imaging; C: Cranial MRI showed hyperintense lesion in the bilateral white matter in fluid-attenuated inversion recovery images; D: Susceptibility-weighted imaging revealed several cortical microbleeds.

Figure 4 Positron emission topography scans of the proband. A: ¹⁸F-florbetapir (AV-45) positron emission topography imaging showed extensive cerebral cortex and cerebellar amyloid beta deposition; B: ¹⁸F-flortaucipir (AV-1451) PET showed abnormal diffuse tau deposition throughout the bilateral frontal, temporal, parietal, and occipital lobes, and the cingulate gyrus; C: Fluorodeoxyglucose positron emission tomography-positron emission topography revealed diffuse hypometabolism in the right lateral temporal lobe, bilateral posterior cingulate gyri, bilateral precunei, right superior parietal lobule, and bilateral inferior parietal lobules (right lobes/Lobules more affected).