Postmortem examination of the case with RELN-COLBOS indicated neuropathological evidence of severe AD (brain weight = 745.4 g, classified as CERAD C, Braak VI stage and Thal phase 5) with extensive amyloid and Tau pathology, while showing some hippocampal formation-specific findings (Fig. 5, Extended Data Figs. 6 and 7, Supplementary Figs. 14–16 and extended description in the supplementary results). The gene discussed is MAPT; the disease is Alzheimer disease.