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]

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

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 >

Language :

Anglais

Audience :

Internationale

Popular science :

Non

Administrative institution(s) :

CHU Lille
CNRS
Inserm
Université de Lille

Collections :

• Lille Neurosciences & Cognition (LilNCog) - U 1172

Research team(s) :

Troubles cognitifs dégénératifs et vasculaires

Submission date :

2019-11-27T13:36:22Z