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An under-recognised cause of spastic paraparesis in middle-aged women
  1. D Bargiela,
  2. G Eglon,
  3. R Horvath,
  4. P F Chinnery
  1. Institute of Genetic Medicine, Newcastle University, Central Parkway, Newcastle upon Tyne, UK
  1. Correspondence to Professor Patrick F Chinnery, Institute of Genetic Medicine, Newcastle University, Central Parkway, Newcastle upon Tyne NE1 3BZ, UK; patrick.chinnery{at}ncl.ac.uk, p.f.chinnery{at}ncl.ac.uk

Abstract

Having excluded common structural, inflammatory and vascular causes of a spastic paraparesis, the diagnostic yield of further clinical investigations is low. Here, we show that testing for rare metabolic and genetic causes can have important implications for both the patient and their family.

  • Metabolic Disease
  • Neurogenetics

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