Neuromuscular Disorders
Volume 19, Issue 12 , Pages 837-840 , December 2009

Late-onset MNGIE without peripheral neuropathy due to incomplete loss of thymidine phosphorylase activity

  • Roberto Massa

      Affiliations

    • Department of Neurosciences, University of Rome-Tor Vergata and IRCCS-Fondazione S. Lucia, Via Montpellier 1, I-00135 Rome, Italy
    • Corresponding Author InformationCorresponding author. Tel.: +39 06 72596004; fax: +39 06 72596022.
    • ,
  • Alessandra Tessa

      Affiliations

    • Molecular Medicine & Neurosciences, IRCCS-Bambino Gesù Hospital, Rome, Italy
    • ,
  • Maria Margollicci

      Affiliations

    • Laboratory of Metabolic Genetics, Department of Pediatrics, University of Siena, Siena, Italy
    • ,
  • Vanna Micheli

      Affiliations

    • Section of Biochemistry, University of Siena, Siena, Italy
    • ,
  • Andrea Romigi

      Affiliations

    • Department of Neurosciences, University of Rome-Tor Vergata and IRCCS-Fondazione S. Lucia, Via Montpellier 1, I-00135 Rome, Italy
    • ,
  • Giulia Tozzi

      Affiliations

    • Molecular Medicine & Neurosciences, IRCCS-Bambino Gesù Hospital, Rome, Italy
    • ,
  • Chiara Terracciano

      Affiliations

    • Department of Neurosciences, University of Rome-Tor Vergata and IRCCS-Fondazione S. Lucia, Via Montpellier 1, I-00135 Rome, Italy
    • ,
  • Fiorella Piemonte

      Affiliations

    • Molecular Medicine & Neurosciences, IRCCS-Bambino Gesù Hospital, Rome, Italy
    • ,
  • Giorgio Bernardi

      Affiliations

    • Department of Neurosciences, University of Rome-Tor Vergata and IRCCS-Fondazione S. Lucia, Via Montpellier 1, I-00135 Rome, Italy
    • ,
  • Filippo M. Santorelli

      Affiliations

    • Molecular Medicine & Neurosciences, IRCCS-Bambino Gesù Hospital, Rome, Italy

Received 3 July 2009 ,Revised 10 August 2009 ,Accepted 27 August 2009.

References 

  1. Nishino I, Spinazzola A, Hirano M. Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder. Science. 1999;283:689–692
  2. Lara MC, Valentino ML, Torres-Torronteras J, Hirano M, Martí R. Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): biochemical features and therapeutic approaches. Biosci Rep. 2007;27:151–163
  3. 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
  4. Martí R, Spinazzola A, Tadesse S, Nishino I, Nishigaki Y, Hirano M. Definitive diagnosis of mitochondrial neurogastrointestinal encephalomyopathy by biochemical assays. Clin Chem. 2004;50:120–124
  5. Martí R, Verschuuren JJ, Buchman A, et al. Late-onset MNGIE due to partial loss of thymidine phosphorylase activity. Ann Neurol. 2005;58:649–652
  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. Smith PK, Krohn RI, Hermanson GT, et al. Measurement of protein using bicinchoninic acid. Anal Biochem. 1985;150:76–85
  8. Santorelli FM, Sciacco M, Tanji K, et al. Multiple mitochondrial DNA deletions in sporadic inclusion body myositis: a study of 56 patients. Ann Neurol. 1996;39:789–795
  9. Giordano C, Sebastiani M, De Giorgio R, et al. Gastrointestinal dysmotility in mitochondrial neurogastrointestinal encephalomyopathy is caused by mitochondrial DNA depletion. Am J Pathol. 2008;173:1120–1128
  10. Nishino I, Spinazzola A, Papadimitriou A, et al. Mitochondrial neurogastrointestinal encephalomyopathy: an autosomal recessive disorder due to thymidine phosphorylase mutations. Ann Neurol. 2000;47:792–800
  11. Bedlack RS, Vu T, Hammans S, et al. MNGIE neuropathy: five cases mimicking chronic inflammatory demyelinating polyneuropathy. Muscle Nerve. 2004;29:364–368
  12. Said G, Lacroix C, Planté-Bordeneuve V, et al. Clinicopathological aspects of the neuropathy of neurogastrointestinal encephalomyopathy (MNGIE) in four patients including two with a Charcot–Marie–Tooth presentation. J Neurol. 2005;252:655–662
  13. Martín MA, Blázquez A, Martí R, et al. Lack of gastrointestinal symptoms in a 60-year-old patient with MNGIE. Neurology. 2004;63:1536–1537

PII: S0960-8966(09)00594-X

doi: 10.1016/j.nmd.2009.08.013

Neuromuscular Disorders
Volume 19, Issue 12 , Pages 837-840 , December 2009

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