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

doi:10.4329/wjr.116652

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World Journal of Radiology

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1949-8470

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Case Report

Copyright: ©Author(s) 2026. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution-NonCommercial (CC BY-NC 4.0) license. No commercial re-use. See permissions. Published by Baishideng Publishing Group Inc.

World J Radiol. Jun 28, 2026; 18(6): 116652
Published online Jun 28, 2026. doi: 10.4329/wjr.116652

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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).

Citation: Li J, Zhou FL, Chen JJ, Lin ZJ, Shi X, Zhang GG, Yang HJ, Dong MJ, Yi L, Hu J, Chen XH. Novel PSEN1 (Q223 L) mutation causes early-onset Alzheimer’s disease: A case report. World J Radiol 2026; 18(6): 116652
URL: https://www.wjgnet.com/1949-8470/full/v18/i6/116652.htm
DOI: https://dx.doi.org/10.4329/wjr.116652

Li J, Zhou FL, Chen JJ, Lin ZJ, Shi X, Zhang GG, Yang HJ, Dong MJ, Yi L, Hu J, Chen XH. Novel PSEN1 (Q223 L) mutation causes early-onset Alzheimer’s disease: A case report. World J Radiol 2026; 18(6): 116652 [PMID: 42395104 DOI: 10.4329/wjr.116652]

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