title: New spastic paraplegia phenotype associated to mutation of NFU1.
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.
authors.affiliation: Paris Diderot University - Sorbonne Paris Cité; Inserm U1141, DHU PROTECT, Robert Debré Hospital, Paris, France. davidetondu@hotmail.com.|Department of Brain and Behavioral Sciences, Unit of Child Neurology and Psychiatry, University of Pavia, Pavia, Italy. davidetondu@hotmail.com.
authors.forename: Davide
authors.initials: D
authors.lastname: Tonduti
authors.affiliation: Paris Diderot University - Sorbonne Paris Cité; Inserm U1141, DHU PROTECT, Robert Debré Hospital, Paris, France. imen.dorboz@inserm.fr.
authors.forename: Imen
authors.initials: I
authors.lastname: Dorboz
authors.affiliation: Hormonology and Biochemistry Departement, Robert Debré Hospital, AP-HP, Paris, France. apolline.imbard@rdb.aphp.fr.
authors.forename: Apolline
authors.initials: A
authors.lastname: Imbard
authors.affiliation: Department of Biochemistry, Bicetre Hospital, AP-HP, Le Kremlin Bicetre, France. abdel.slama@bct.aphp.fr.
authors.forename: Abdelhamid
authors.initials: A
authors.lastname: Slama
authors.affiliation: Department of Biochemistry, Bicetre Hospital, AP-HP, Le Kremlin Bicetre, France. audrey.boutron@bct.aphp.fr.
authors.forename: Audrey
authors.initials: A
authors.lastname: Boutron
authors.affiliation: Departement of Neuropediatrics and Metabolic Diseases, Robert Debré Hospital, AP-HP, 48, Boulevard Sérurier, 75019, Paris, France. samia.pichard@rdb.aphp.fr.
authors.forename: Samia
authors.initials: S
authors.lastname: Pichard
authors.affiliation: Departement of Pediatric Radiology, Robert Debré Hospital, AP-HP, Paris, France. monique.elmaleh@rdb.aphp.fr.
authors.forename: Monique
authors.initials: M
authors.lastname: Elmaleh
authors.affiliation: Department of Neuropediatrics, CHRU, University Lille North, Lille, France. louis.vallee@chru-lille.fr.
authors.forename: Louis
authors.initials: L
authors.lastname: Vallée
authors.affiliation: Hormonology and Biochemistry Departement, Robert Debré Hospital, AP-HP, Paris, France. jean-francois.benoist@rdb.aphp.fr.
authors.forename: Jean François
authors.initials: JF
authors.lastname: Benoist
authors.affiliation: Departement of Neuropediatrics and Metabolic Diseases, Robert Debré Hospital, AP-HP, 48, Boulevard Sérurier, 75019, Paris, France. helene.ogier@rdb.aphp.fr.
authors.forename: Heléne
authors.initials: H
authors.lastname: Ogier
authors.affiliation: Paris Diderot University - Sorbonne Paris Cité; Inserm U1141, DHU PROTECT, Robert Debré Hospital, Paris, France. odile.boespflug-tanguy@rdb.aphp.fr.|Departement of Neuropediatrics and Metabolic Diseases, Robert Debré Hospital, AP-HP, 48, Boulevard Sérurier, 75019, Paris, France. odile.boespflug-tanguy@rdb.aphp.fr.
authors.forename: Odile
authors.initials: O
authors.lastname: Boespflug-Tanguy
mesh_terms: D000328:Adult; D002352:Carrier Proteins / Q000235:genetics / Q000378:metabolism*; D006801:Humans; D008297:Male; D020336:Paraparesis, Spastic / Q000235:genetics / Q000378:metabolism* / Q000473:pathology
chemical_list: D002352:Carrier Proteins; C426067:NFU1 protein, human