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. 2017 Jun 9;5:43. doi: 10.1186/s40478-017-0441-9

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© The Author(s). 2017

Open AccessThis article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.

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Fig. 1 — Pedigree of family PED.25. The family segregates the SORL1 variant c.3907C > T (p.Arg1303Cys) in two generations. Individuals included in the whole-exome sequencing (WES) are marked with an *. The genetic status for variant c.3907C > T is indicated “carrier” for heterozygotes, “wildtype” when absent, and “unknown” if DNA was unavailable. Diagnosis refers to the clinical diagnosis. Onset refers to first observation of dementia symptoms, and APOE indicates the ε-alleles. Neuropath indicates the post mortem neuropathological diagnosis. The age at last known affection status of individuals still alive is indicated in parenthesis