Positive amyloid and tau PET in an early-onset Alzheimer’s disease with a rare PSEN1 (Arg278Gly) mutation
Author:
Funder
1.3.5 Project for Disciplines of Excellence, West China Hospital, Sichuan University
Natural Science Foundation of Sichuan Province
Publisher
Springer Science and Business Media LLC
Link
https://link.springer.com/content/pdf/10.1007/s00259-024-06917-1.pdf
Reference6 articles.
1. López-García S, Jiménez-Bonilla J, López Delgado A, Orizaola Balaguer P, Infante Ceberio J, Banzo Marraco I, et al. A rare PSEN1 (Leu85Pro) mutation causing Alzheimer’s Disease in a 29-Year-old woman presenting as Corticobasal Syndrome. J Alzheimers Dis. 2019;70:655–8. https://doi.org/10.3233/jad-190107.
2. Liu J, Wang Q, Jing D, Gao R, Zhang J, Cui C, et al. Diagnostic Approach of early-onset dementia with negative family history: implications from two cases of early-onset Alzheimer’s Disease with De Novo PSEN1 Mutation. J Alzheimers Dis. 2019;68:551–8. https://doi.org/10.3233/jad-181108.
3. Cotta Ramusino M, Massa F, Festari C, Gandolfo F, Nicolosi V, Orini S, et al. Diagnostic performance of molecular imaging methods in predicting the progression from mild cognitive impairment to dementia: an updated systematic review. Eur J Nucl Med Mol Imaging. 2024. https://doi.org/10.1007/s00259-024-06631-y.
4. Cotta Ramusino M, Perini G, Altomare D, Barbarino P, Weidner W, Salvini Porro G, et al. Outcomes of clinical utility in amyloid-PET studies: state of art and future perspectives. Eur J Nucl Med Mol Imaging. 2021;48:2157–68. https://doi.org/10.1007/s00259-020-05187-x.
5. Pemberton HG, Collij LE, Heeman F, Bollack A, Shekari M, Salvadó G, et al. Quantification of amyloid PET for future clinical use: a state-of-the-art review. Eur J Nucl Med Mol Imaging. 2022;49:3508–28. https://doi.org/10.1007/s00259-022-05784-y.
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