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. 2020 Jun 30;12(1):e12036. doi: 10.1002/dad2.12036

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© 2020 The Authors. Alzheimer's & Dementia: Diagnosis, Assessment & Disease Monitoring published by Wiley Periodicals, Inc. on behalf of Alzheimer's Association

This is an open access article under the terms of the http://creativecommons.org/licenses/by-nc-nd/4.0/ License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non‐commercial and no modifications or adaptations are made.

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The multiplex amyloid beta (Aβ) high performance liquid chromatography tandem mass spectrometry assay enabled identification of cases (A) homozygous for wild‐type amyloid‐precursor protein (wt‐APP) alleles and (B‐J) heterozygous for an Alzheimer's disease autosomal dominant APP variant, as demonstrated by the multiple reaction monitoring chromatograms. A, In the homozygous sample, a single wt‐Aβ40 peak (blue) is observed. B‐J, In the heterozygous samples, both the wt‐Aβ40 (blue) and var‐Aβ40 (magenta) peaks are observed, the latter corresponding to the following pathogenic variants: (B) Arctic (E22G), (C) Dutch (E22Q), (D) English (H6R), (E) Flemish (A21G), (F) Iowa (D23N), (G) Italian (E22K), (H) Osaka (E22∆), (I) Piedmont (L34V), and (J) Tottori (D7N)