New spastic paraplegia phenotype associated to mutation of NFU1

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• 作者：Davide Tonduti (1) (2)
  Imen Dorboz (1)
  Apolline Imbard (3)
  Abdelhamid Slama (4)
  Audrey Boutron (4)
  Samia Pichard (5)
  Monique Elmaleh (6)
  Louis Vall茅e (7)
  Jean Fran莽ois Benoist (3)
  Hel茅ne Ogier (5)
  Odile Boespflug-Tanguy (1) (5)
  
  1. Paris Diderot University 鈥?Sorbonne Paris Cit茅 ; Inserm U1141 ; DHU PROTECT ; Robert Debr茅 Hospital ; Paris ; France
  2. Department of Brain and Behavioral Sciences ; Unit of Child Neurology and Psychiatry ; University of Pavia ; Pavia ; Italy
  3. Hormonology and Biochemistry Departement ; Robert Debr茅 Hospital ; AP-HP ; Paris ; France
  4. Department of Biochemistry ; Bicetre Hospital ; AP-HP ; Le Kremlin Bicetre ; France
  5. Departement of Neuropediatrics and Metabolic Diseases ; Robert Debr茅 Hospital ; AP-HP ; 48 ; Boulevard S茅rurier ; 75019 ; Paris ; France
  6. Departement of Pediatric Radiology ; Robert Debr茅 Hospital ; AP-HP ; Paris ; France
  7. Department of Neuropediatrics ; CHRU ; University Lille North ; Lille ; France
  
• 关键词：Irons sulfur clusters ; Leukoencephalopathy ; Spastic paraplegia ; NFU1
• 刊名：Orphanet Journal of Rare Diseases
• 出版年：2015
• 出版时间：December 2015
• 年：2015
• 卷：10
• 期：1
• 全文大小：544 KB
• 参考文献：1. Cameron JM, Janer A, Levandovskiy V, Mackay N, Rouault TA, Tong WH, et al. Mutations in iron-sulfur cluster scaffold genes NFU1 and BOLA3 cause a fatal deficiency of multiple respiratory chain and 2-oxoacid dehydrogenase enzymes. Am J Hum Genet. 2011;89:486鈥?5. CrossRef
  2. Seyda A, Newbold RF, Hudson TJ, Verner A, MacKay N, Winter S, et al. A novel syndrome affecting multiple mitochondrial functions, located by microcell-mediated transfer to chromosome 2p14-2p13. Am J Hum Genet. 2001;68:386鈥?6. CrossRef
  3. Navarro-Sastre A, Tort F, Stehling O, Uzarska MA, Arranz JA, Del Toro M, et al. A fatal mitochondrial disease is associated with defective NFU1 function in the maturation of a subset of mitochondrial Fe-S proteins. Am J Hum Genet. 2011;89:656鈥?7. CrossRef
  4. Nizon M, Boutron A, Boddaert N, Slama A, Delpech H, Sardet C, et al. Leukoencephalopathy with cysts and hyperglycinemia may result from NFU1 deficiency. Mitochondrion. 2014;15:59鈥?4. CrossRef
  5. Lill R, M眉hlenhoff U. Maturation of iron-sulfur proteins in eukaryotes: mechanisms, connected processes, and diseases. Annu Rev Biochem. 2008;77:669鈥?00. CrossRef
  6. Bernier FP, Boneh A, Dennett X, Chow CW, Cleary MA, Thorburn DR. Diagnostic criteria for respiratory chain disorders in adults and children. Neurology. 2002;59:1406鈥?1. CrossRef
  7. Imbard A, Boutron A, Vequaud C, Zater M, de Lonlay P, de Baulny HO, et al. Molecular characterization of 82 patients with pyruvate dehydrogenase complex deficiency. Structural implications of novel amino acid substitutions in E1 protein. Mol Genet Metab. 2011;104:507鈥?6. CrossRef
  
• 刊物主题：Medicine/Public Health, general; Pharmacology/Toxicology; Medicinal Chemistry;
• 出版者：BioMed Central
• ISSN：1750-1172

文摘

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.