New spastic paraplegia phenotype associated ...
Document type :
Article dans une revue scientifique: Article original
PMID :
Permalink :
Title :
New spastic paraplegia phenotype associated to mutation of nfu1
Author(s) :
Tonduti, Davide [Auteur]
Dorboz, Imen [Auteur]
Imbard, Apolline [Auteur]
Slama, Abdelhamid [Auteur]
Boutron, Audrey [Auteur]
Pichard, Samia [Auteur]
Elmaleh, Monique [Auteur]
Vallee, Louis [Auteur]
Benoist, Jean François [Auteur]
Ogier, Helene [Auteur]
Boespflug-Tanguy, Odile [Auteur]
Dorboz, Imen [Auteur]
Imbard, Apolline [Auteur]
Slama, Abdelhamid [Auteur]
Boutron, Audrey [Auteur]
Pichard, Samia [Auteur]
Elmaleh, Monique [Auteur]
Vallee, Louis [Auteur]
Benoist, Jean François [Auteur]
Ogier, Helene [Auteur]
Boespflug-Tanguy, Odile [Auteur]
Journal title :
Orphanet journal of rare diseases
Abbreviated title :
Orphanet J. Rare Dis.
Volume number :
10
Publication date :
2015-02-08
ISSN :
1750-1172
English keyword(s) :
Leukoencephalopathy
NFU1
Spastic paraplegia
Irons sulfur clusters
NFU1
Spastic paraplegia
Irons sulfur clusters
HAL domain(s) :
Sciences du Vivant [q-bio]
English abstract : [en]
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 ...
Show more >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.Show less >
Show more >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.Show less >
Language :
Anglais
Audience :
Internationale
Popular science :
Non
Administrative institution(s) :
CHU Lille
CNRS
Inserm
Université de Lille
CNRS
Inserm
Université de Lille
Collections :
Research team(s) :
Troubles cognitifs dégénératifs et vasculaires
Submission date :
2019-11-27T13:36:22Z