Article
Novel genetic variant in hereditary spastic paraparesis.
BMJ case reports - 17 Apr 2024
Knight Kathryn A W, Barbour-Hastie Catriona, Gane Angus, O'Riordan Jonathan
Abstract excerpt
A man in his 30s was referred to neurology with right-sided paraesthesia, tremors, chest pain and lower urinary tract and erectile dysfunction. He had a medical history of left acetabular dysplasia, and subjective memory impairment, the latter being in the context of depression and chronic pain with opioid use. There was no notable family history. On examination, he had a spastic paraparesis. Imaging revealed...
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