New spastic paraplegia phenotype associated to mutation of NFU1

@inproceedings{Tonduti2015NewSP,
  title={New spastic paraplegia phenotype associated to mutation of NFU1},
  author={Davide Tonduti and I Dorboz and Apolline Imbard and Abdelhamid Slama and Audrey Boutron and Samia Pichard and Monique Elmaleh and Louis Vall{\'e}e and Jean François Benoist and H. A. M. Ogier and Odile Boespflug-Tanguy},
  booktitle={Orphanet journal of rare diseases},
  year={2015}
}
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… CONTINUE READING
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