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.

New spastic paraplegia phenotype associated to mutation of NFU1 / D. Tonduti, I. Dorboz, A. Imbard, A. Slama, A. Boutron, S. Pichard, M. Elmaleh, L. Vallee, J. Benoist, H. Ogier, O. Boespflug-Tanguy. - In: ORPHANET JOURNAL OF RARE DISEASES. - ISSN 1750-1172. - 10:(2015 Feb 08), pp. 13.1-13.3. [10.1186/s13023-015-0237-6]

New spastic paraplegia phenotype associated to mutation of NFU1

D. Tonduti
Primo
;
2015

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.
irons sulfur clusters; leukoencephalopathy; spastic paraplegia; NFU1
Settore MED/39 - Neuropsichiatria Infantile
8-feb-2015
Article (author)
File in questo prodotto:
File Dimensione Formato  
nfu1.pdf

accesso aperto

Tipologia: Publisher's version/PDF
Dimensione 544.61 kB
Formato Adobe PDF
544.61 kB Adobe PDF Visualizza/Apri
Pubblicazioni consigliate

I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.

Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/2434/938708
Citazioni
  • ???jsp.display-item.citation.pmc??? ND
  • Scopus 27
  • ???jsp.display-item.citation.isi??? 25
social impact