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

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

Table 1 Levels of amyloid beta 40, amyloid beta 42, and p-Tau181 in cerebrospinal fluid

CSF levels of biomarkers	Patient’s result	Indication	Normal control
Aβ40	7434.98 pg/mL	-	-
Aβ42	291.64 pg/mL	↓	> 691 pg/mL
Aβ42/Aβ40	0.04	↓	> 0.06
p-Tau181	55.66 pg/mL	↑	< 51 pg/mL

Aβ: Amyloid beta; CSF: Cerebrospinal fluid.

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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 [DOI: 10.4329/wjr.116652]

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