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- Title
New spastic paraplegia phenotype associated to mutation of NFU1.
- Authors
Tonduti, Davide; Dorboz, Imen; Imbard, Apolline; Slama, Abdelhamid; Boutron, Audrey; Pichard, Samia; Elmaleh, Monique; Vallée, Louis; Benoist, Jean François; Ogier, Heléne; Boespflug-Tanguy, Odile
- 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.
- Subjects
GENETIC mutation; ENCEPHALITIS; MUTANT proteins; PARAPARESIS; MOVEMENT disorders; PROGRESSIVE multifocal leukoencephalopathy; PHYSIOLOGY
- Publication
Orphanet Journal of Rare Diseases, 2015, Vol 10, Issue 1, p1
- ISSN
1750-1172
- Publication type
Article
- DOI
10.1186/s13023-015-0237-6