In current clinical practice, AD diagnosis in the general population is based on a multidisciplinary approach including medical history, mental status, and neuropsychological evaluation in combination with biomarker evidence for AD-typical pathology obtained via neuroimaging (e.g. MRI-based evidence of atrophy, PET measures indicative of neurodegeneration-related hypometabolism or Aβ deposition) or biofluid analysis (decreased CSF Aβ and increased T-tau or P-tau CSF levels) [13]. The gene discussed is MAPT; the disease is Alzheimer disease.