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Hereditary spastic paraplegia — SCE Neurology MCQ

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HardNeurogenetics and NeuroimmunologyHereditary spastic paraplegiaSCE Neurology

A patient has slowly progressive pure spastic paraparesis, urinary urgency, preserved sensation and an affected parent. MRI excludes compression and testing finds a heterozygous SPAST variant. What is the diagnosis?

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Correct answer: B — SPAST-related autosomal-dominant hereditary spastic paraplegia (SPG4), given the imaging pattern

The best answer is “SPAST-related autosomal-dominant hereditary spastic paraplegia (SPG4), given the imaging pattern”. The pure familial phenotype and pathogenic SPAST variant establish SPG4, the commonest autosomal-dominant hereditary spastic paraplegia. “Primary lateral sclerosis without a hereditary cause” remains a plausible alternative in a different presentation, but it does not fit the decisive finding or management threshold here. “Adrenomyeloneuropathy caused by ABCD1 deficiency” remains a plausible alternative in a different presentation, but it does not fit the decisive finding or management threshold here. “HTLV-1-associated myelopathy” remains a plausible alternative in a different presentation, but it does not fit the decisive finding or management threshold here. “Multiple sclerosis with relapsing inflammatory lesions” remains a plausible alternative in a different presentation, but it does not fit the decisive finding or management threshold here.

Reference: GeneReviews: Spastic Paraplegia 4: https://www.ncbi.nlm.nih.gov/books/NBK1160/