In the clinical setting, the diagnosis of (probable) AD is made based on clinical symptoms (e.g., self-reported memory loss, partner reports, difficulties in daily functioning), combined with neuropsychological testing, and confirmed by evidence of amyloid pathology in CSF (abnormal Aβ and/or Tau levels) or on amyloid PET scans, when available. The gene discussed is MAPT; the disease is Alzheimer disease.