Neurology: Alzheimer disease genetics: practice question

A General Medicine question in the style of the NEET PG paper. Answer it first, then read why the right option is right and why each of the others is wrong.

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General Medicine · Neurology: Alzheimer disease genetics

Sample item

Which genetic factor is the strongest risk factor for sporadic late-onset Alzheimer disease?

Original practice item, not a recalled exam question. Nothing here is recorded.

The answer and the reasoning

D. APOE epsilon 4 allele

The APOE epsilon 4 allele on chromosome 19 increases risk in a dose-dependent manner, while epsilon 2 is protective. Presenilin 1, presenilin 2 and APP mutations cause rare early-onset familial disease. Pathology shows extracellular amyloid plaques and intraneuronal tau tangles.

Option by option

  • A. Presenilin 1 mutation

    PSEN1 mutations cause early-onset familial Alzheimer disease.

  • B. APOE epsilon 2 allele

    APOE e2 is relatively protective.

  • C. Huntingtin CAG repeat expansion

    CAG repeat expansion causes Huntington disease.

  • D. APOE epsilon 4 allele (correct)

    Correct. APOE e4 is the major risk allele for late-onset disease.

Source note: Original NextPrep sample item — pending expert review. This item is original practice material awaiting independent expert review, so confirm important facts in a standard textbook.

More General Medicine questions

Questions about this General Medicine question

What is the answer to this General Medicine question?

The best answer is D, APOE epsilon 4 allele. The APOE epsilon 4 allele on chromosome 19 increases risk in a dose-dependent manner, while epsilon 2 is protective.

Why is "Presenilin 1 mutation" not the answer?

PSEN1 mutations cause early-onset familial Alzheimer disease.

Why is "APOE epsilon 2 allele" not the answer?

APOE e2 is relatively protective.

Why is "Huntingtin CAG repeat expansion" not the answer?

CAG repeat expansion causes Huntington disease.

What concept does this question test?

It tests Neurology: Alzheimer disease genetics in General Medicine. Presenilin 1, presenilin 2 and APP mutations cause rare early-onset familial disease. Pathology shows extracellular amyloid plaques and intraneuronal tau tangles.

How hard is this question?

We tag it as an application question: it asks you to use a fact on a patient or a finding. The tag is our own editorial judgement, not an official difficulty rating, so read the reason for every option, not only the answer.

How should I study Neurology: Alzheimer disease genetics?

For each disease know the classic presentation, the best test, and the first-line treatment. Then use the flashcards and the other General Medicine questions on this site to test what stuck.

Is this a real NEET PG question?

No. It is an original practice item (editorial status: sample, version 1). NextPrep does not publish recalled or leaked questions, and independent faculty review of this item has not been completed yet, so confirm important facts in a standard textbook.