Familial Alzheimer Disease Genetics and Biomarkers
Reviews familial Alzheimer disease genetics and biomarkers, including APP, presenilin mutations, APOE risk, and CSF or plasma markers.
Duration
00:03:42
File size
1.92 MB
Practitioner-Guided Note
Use familial AD genetics, AD biomarkers, and episodic memory changes in Alzheimer disease to frame the working diagnosis and next step; use it to sharpen the differential and avoid a false label. Make AD biomarkers the checkpoint that determines whether you escalate testing, narrow the differential, or change treatment.
Key Takeaways
Inherited, familial cases are actually quite rare, accounting for fewer than 7% of all Alzheimer's diagnoses; Additionally, testing for phosphorylated tau in blood plasma, such as p-tau 181 or p-tau 217, correlates beautifully with true Alzheimer's pathology in the brain; Episodic memory is our ability to recall specific personal events or life episodes tied to a particular time and place; Clinicians can look at a few highly accurate biomarkers, including the amyloid beta 42-to-40 ratio, phosphorylated tau, and neurofilament light chain in the cerebrospinal fluid; When it is familial, the typical culprits are mutations in presenilin-one on chromosome 14, presenilin-two on chromosome 1, or the APP gene on chromosome 21