New spastic paraplegia phenotype associated to mutation of NFU1

Orphanet J Rare Dis. 2015 Feb 8:10:13. doi: 10.1186/s13023-015-0237-6.

Abstract

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.

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Adult
  • Carrier Proteins / genetics
  • Carrier Proteins / metabolism*
  • Humans
  • Male
  • Paraparesis, Spastic / genetics
  • Paraparesis, Spastic / metabolism*
  • Paraparesis, Spastic / pathology

Substances

  • Carrier Proteins
  • NFU1 protein, human