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Psychiatry · Organic mental disorders: CADASIL
Sample itemA 45-year-old woman has migraine with aura, recurrent lacunar strokes, mood disturbance and progressive cognitive decline. Her mother had similar problems. MRI shows white matter hyperintensities in the anterior temporal poles and external capsules. Which gene is most likely mutated?
Original practice item, not a recalled exam question. Nothing here is recorded.
The answer and the reasoning
D. NOTCH3
CADASIL, cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy, is due to NOTCH3 mutations. It causes migraine with aura, recurrent subcortical strokes, mood disorder and a subcortical vascular dementia.
Option by option
A. APP
APP mutations cause early-onset familial Alzheimer disease.
B. MAPT
MAPT mutations cause familial frontotemporal dementia with tau pathology.
C. PRNP
PRNP mutations cause inherited prion disease.
D. NOTCH3 (correct)
Correct. NOTCH3 mutations cause hereditary small-vessel disease with these MRI findings.
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.
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