Two phosphorylated tau isoforms, pT181 and pT217 used as biomarkers for Alzheimer’s disease in CSF [41, 42], also were significantly associated with effect size (pT181: Spearman r = 0.418, p = 0.03; pT217: Spearman r = − 0.389, p = 0.045) (Fig. 5N-P). Here, MAPT is linked to early-onset autosomal dominant Alzheimer disease.