New spastic paraplegia phenotype associated to mutation of NFU1

Davide Tonduti, Imen Dorboz, Apolline Imbard, Abdelhamid Slama, Audrey Boutron, Samia Pichard, Monique Elmaleh, Louis Vallée, Jean François Benoist, Heléne Ogier, Odile Boespflug-Tanguy

Research output: Contribution to journalArticlepeer-review


Recently an early onset lethal encephalopathy has been described in relation to mutations of NFU1, one of the genes involved in iron-sulfur cluster metabolism. We report a new NFU1 mutated patient presenting with a milder phenotype characterized by a later onset, a slowly progressive spastic paraparesis with relapsing-remitting episodes, mild cognitive impairment and a long survival. The early white matter abnormalities observed on MRI was combined with a mixed sensory-motor neuropathy in the third decade. Our case clearly suggests the importance of considering NFU1 mutation in slowly evolving leukoencephalopathy with high glycine concentration.

Original languageEnglish
Article number13
JournalOrphanet Journal of Rare Diseases
Issue number1
Publication statusPublished - 2015


  • Irons sulfur clusters
  • Leukoencephalopathy
  • NFU1
  • Spastic paraplegia

ASJC Scopus subject areas

  • Medicine(all)
  • Genetics(clinical)
  • Pharmacology (medical)


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