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Spastic paraplegia as the only symptom in two adult-onset patients carrying a novel pathogenic variant in PYCR2.

J-J XieW NiQ WeiZhi-Ying Wu
Published in: European journal of neurology (2020)
A novel pathogenic PYCR2 variant and corresponding brain images in two patients characterized by spastic paraplegia.
Keyphrases
  • end stage renal disease
  • ejection fraction
  • newly diagnosed
  • chronic kidney disease
  • prognostic factors
  • patient reported outcomes
  • multiple sclerosis
  • subarachnoid hemorrhage
  • brain injury