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Friedreich ataxia — SCE Neurology MCQ

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HardNeurogenetics and NeuroimmunologyFriedreich ataxiaSCE Neurology

A 31-year-old woman presented with adolescent progressive ataxia with scoliosis and cardiomyopathy. On examination, there was areflexia, extensor plantars and impaired vibration sense. Initial investigations showed: genetic testing showed FXN GAA expansion. What is the most likely underlying mechanism?

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Correct answer: D — frataxin deficiency causing mitochondrial dysfunction

The best answer is “frataxin deficiency causing mitochondrial dysfunction”. UK stroke guidance supports urgent vascular imaging and reperfusion selection, short-course dual antiplatelet therapy for eligible minor stroke or high-risk TIA, decompression for life-threatening swelling, and secondary prevention matched to mechanism. The alternatives “Post-infectious immune polyradiculoneuropathy”, “Large-vessel thromboembolism, after specialist assessment”, “Dopamine receptor blockade”, “Granulomatous vessel wall inflammation” are clinically adjacent possibilities, but they do not match the defining chronology, localisation, physiology, investigation result or UK management sequence in this stem.

Reference: National Clinical Guideline for Stroke: acute care: https://www.strokeguideline.org/chapter/acute-care/