Allogeneic stem cell transplantation corrects biochemical derangements in MNGIE

Neurology

Volumn 67, Issue 8, 2006, Pages 1458-1460

  Hirano, M ^a   Marti R ^b   Casali, C ^c   Tadesse, S ^a   Uldrick, T ^a   Fine, B ^d   Escolar, D M ^d   Valentino, M L ^a   Nishino, I ^e   Hesdorffer, C ^f   Schwartz, J ^a   Hawks, R G ^a   Martone, D L ^a   Cairo, M S ^a   DiMauro, S ^a   Stanzani, M ^g   Garvin, J H ^a   Savage, D G ^a  

^a New York Presbyterian Morgan Stanley Children's Hospital   (United States)

^b HOSPITAL UNIVERSITARI VALL D HEBRON   (Spain)

^c SAPIENZA UNIVERSITY OF ROME   (Italy)

^d CHILDREN'S NATIONAL MEDICAL CENTER   (United States)

^e NATIONAL INSTITUTE OF NEUROSCIENCE   (Japan)

^f HACKENSACK UNIVERSITY MEDICAL CENTER   (United States)

^g UNIVERSITY OF BOLOGNA   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

MYCOPHENOLIC ACID; NUCLEOTIDE; RAPAMYCIN; TACROLIMUS; THYMIDINE PHOSPHORYLASE;

ADULT; ALLOGENEIC STEM CELL TRANSPLANTATION; ANAMNESIS; ARTICLE; BRAIN RADIOGRAPHY; CASE REPORT; CHIMERA; CLINICAL EFFECTIVENESS; CLINICAL FEATURE; CONTROLLED STUDY; DONOR; ELECTROPHYSIOLOGY; ENZYME ACTIVITY; FEMALE; GENE MUTATION; GRAFT VERSUS HOST REACTION; HUMAN; IMMUNOSUPPRESSIVE TREATMENT; MALE; MNGIE SYNDROME; NUCLEAR MAGNETIC RESONANCE IMAGING; PRIORITY JOURNAL; PROTEIN BLOOD LEVEL; TREATMENT FAILURE; TREATMENT OUTCOME; TREATMENT WITHDRAWAL;

EID: 33750306390     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/01.wnl.0000240853.97716.24     Document Type: Article

References (10)

1. Hirano M, Silvestri G, Blake DM, et al. Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): clinical, biochemical, and genetic features of an autosomal recessive mitochondrial disorder. Neurology 1994;44:721-727.
2. Nishino I, Spinazzola A, Hirano M. Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder. Science 1999;283:689-692.
3. Nishino I, Spinazzola A, Papadimitriou A, et al. MNGIE: an autosomal recessive disorder due to thymidine phosphorylase mutations. Ann Neurol 2000;47:792-800.
4. Hirano M, Nishigaki Y, Martí R. MNGIE: a disease of two genomes. Neurologist 2004;10:8-17.
5. Martí R, Nishigaki Y, Hirano M. Elevated plasma deoxyuridine in patients with thymidine phosphorylase deficiency. Biochem Biophys Res Commun 2003;303:14-18.
6. Spinazzola A, Marti R, Nishino I, et al. Altered thymidine metabolism due to defects of thymidine phosphorylase. J Biol Chem 2002;277:4128-4133.
7. Pel Toro G, Satwani P, Harrison L, et al. A pilot study of reduced intensity conditioning and allogeneic stem cell transplantation from unrelated cord blood and matched family donors in children and adolescent recipients. Bone Marrow Transplant 2004;33:613-622.
8. Marti R, Verschuuren JJ, Buchman A, et al. Late-onset MNGIE due to partial loss of thymidine phosphorylase activity. Ann Neurol 2005;58:649-652.
9. Pontarin G, Gallinaro L, Ferraro P, Reichard P, Bianchi V. Origins of mitochondrial thymidine triphosphate: dynamic relations to cytosolic pools. Proc Natl Acad Sci USA 2003;100:12159-12164.
10. Lara MC, Weiss B, Illa I, et al. Infusion of platelets transiently reduces nucleoside overload in MNGIE. Neurology 2006;67:1461-1463.