Stroke Rehabilitation – Therapy Intensity — SCE Neurology MCQ

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HardNeurorehabilitationStroke Rehabilitation – Therapy IntensitySCE Neurology

A 51-year-old has slowly progressive spastic ataxia, optic atrophy and external ophthalmoplegia. Nerve conduction is normal, lactate is mildly raised and mitochondrial DNA sequencing is negative. Which genotype best integrates the phenotype?

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Correct answer: A — Biallelic pathogenic variants in SPG7

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

A may cause dominant optic atrophy-plus with external ophthalmoplegia but does not typically produce this spastic-ataxia pattern. B causes ARSACS, usually with earlier onset, neuropathy and retinal fibre changes. C is correct: SPG7 disease spans pure spastic paraplegia to spastic ataxia with optic atrophy and progressive external ophthalmoplegia. D usually causes a purer dominant spastic paraplegia. E causes SPG5, often with a relatively pure spastic phenotype and characteristic oxysterol elevation.

Reference: SPG7-related neurologic disorder: https://www.ncbi.nlm.nih.gov/books/NBK1107/