Familial Alzheimer Disease – PSEN1 — SCE Neurology MCQ

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ModerateNeurogeneticsFamilial Alzheimer Disease – PSEN1SCE Neurology

A 30-year-old man with a family history of early-onset dementia presents with progressive memory loss. Genetic testing reveals a presenilin-1 (PSEN1) mutation. At what age does familial Alzheimer disease due to PSEN1 typically present?

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Correct answer: D — Age 30–60 (earlier than sporadic AD)

Explanation lettering: D = shown as B · E = shown as C · B = shown as D · C = shown as E

PSEN1 mutations are the most common cause of autosomal dominant early-onset familial Alzheimer disease, typically presenting between ages 30 and 60 (often in the 40s). PSEN1 encodes presenilin-1, a component of the gamma-secretase complex involved in amyloid precursor protein processing. Other genetic causes include PSEN2 mutations and APP mutations. APOE ε4 is a risk factor for sporadic AD but does not cause autosomal dominant disease. A/D/E: PSEN1 AD presents earlier than sporadic AD. C: Childhood onset is rare even for PSEN1.

Reference: NICE NG97 Dementia; NIA-AA Genetic AD Framework