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Palliative care in MND — SCE Neurology MCQ

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HardSpecial GroupsPalliative care in MNDSCE Neurology

A 36-year-old with treatment-resistant psychosis develops gait ataxia, dysarthria, gelastic cataplexy and a vertical supranuclear gaze palsy that first affects downward saccades. Childhood splenomegaly is documented. Which molecular test is most appropriate?

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Correct answer: C — NPC1 and NPC2 molecular analysis

C is correct: the combination of psychiatric disease, ataxia, gelastic cataplexy, visceral history and downward-first vertical supranuclear gaze palsy is highly characteristic of Niemann-Pick type C. Contemporary diagnosis uses molecular analysis of NPC1 and NPC2, with biochemical biomarkers used as appropriate. Common SCAs do not explain splenomegaly and cataplexy. RFC1 disease lacks the visceral and gaze-palsy pattern. MELAS does not characteristically produce this syndrome.

Reference: Niemann-Pick type C: contemporary diagnosis and treatment of a classical disorder: https://pn.bmj.com/content/19/5/420