Top

Published in:

01-01-2012 | Letter to the Editors

A new thymidine phosphorylase mutation causing elongation of the protein underlies mitochondrial neurogastrointestinal encephalomyopathy

Authors: Elena Cardaioli, Francesco Sicurelli, Maria Alessandra Carluccio, Gian Nicola Gallus, Paola Da Pozzo, Mauro Mondelli, Maria Antonietta Margollicci, Vanna Micheli, Antonio Federico, Maria Teresa Dotti

Published in: Journal of Neurology | Issue 1/2012

Excerpt

Dear Sirs, …

Nishino I, Spinazzola A, Hirano M (1999) Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder. Science 283:689–692PubMedCrossRef

Nishino I, Spinazzola A, Papadimitriou A et al (2000) Mitochondrial neurogastrointestinal encephalomyopathy: an autosomal recessive disorder due to thymidine phosphorylase mutations. Ann Neurol 47:792–800PubMedCrossRef

Valentino ML, Martí R, Tadesse S et al (2007) Thymidine and deoxyuridine accumulate in tissues of patients with mitochondrial neurogastrointestinal encephalomyopathy (MNGIE). FEBS Lett 581:3410–3414PubMedCrossRef

Cartegni L, Chew SL, Krainer AR (2002) Listening to silence and understanding nonsense: exonic mutations that affect splicing. Nat Rev Genet 3:285–298PubMedCrossRef

Martín MA, Blázquez A, Martí R et al (2004) Lack of gastrointestinal symptoms in a 60-year-old patient with MNGIE. Neurology 63:1536–1537PubMed

Szigeti K, Wong LJ, Perng CL et al (2004) MNGIE with lack of skeletal muscle involvement and a novel TP splice site mutation. J Med Genet 41:125–129PubMedCrossRef

Cardaioli E, Da Pozzo P, Malfatti E et al (2010) A second MNGIE patient without typical mitochondrial skeletal muscle involvement. Neurol Sci 31:491–494PubMedCrossRef

Carod-Artal FJ, Herrero MD, Lara MC et al (2007) Cognitive dysfunction and hypogonadotrophic hypogonadism in a Brazilian patient with mitochondrial neurogastrointestinal encephalomyopathy and a novel ECGF1 mutation. Eur J Neurol 14:581–585PubMedCrossRef

Martí R, Verschuuren JJ, Buchman A et al (2005) Late-onset MNGIE due to partial loss of thymidine phosphorylase activity. Ann Neurol 58:649–652PubMedCrossRef

10.

Halter J, Schüpbach WM, Casali C et al (2010) Allogeneic hematopoietic SCT as treatment option for patients with mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): a consensus conference proposal for a standardized approach. Bone Marrow Transpl 46:330–337CrossRef

11.

Hirano M, Martí R, Casali C et al (2006) Allogeneic stem cell transplantation corrects biochemical derangements in MNGIE. Neurology 67:1458–1460PubMedCrossRef

Title: A new thymidine phosphorylase mutation causing elongation of the protein underlies mitochondrial neurogastrointestinal encephalomyopathy
Authors: Elena Cardaioli
Francesco Sicurelli
Maria Alessandra Carluccio
Gian Nicola Gallus
Paola Da Pozzo
Mauro Mondelli
Maria Antonietta Margollicci
Vanna Micheli
Antonio Federico
Maria Teresa Dotti
Publication date: 01-01-2012
Publisher: Springer-Verlag
Published in: Journal of Neurology / Issue 1/2012
Print ISSN: 0340-5354
Electronic ISSN: 1432-1459
DOI: https://doi.org/10.1007/s00415-011-6113-y

At a glance: The ONWARDS insulin icodec trials

Springer Medicine

A new thymidine phosphorylase mutation causing elongation of the protein underlies mitochondrial neurogastrointestinal encephalomyopathy

Excerpt

At a glance: The ONWARDS insulin icodec trials

Springer Medicine

Excerpt

Please log in to get access to this content

Other articles of this Issue 1/2012

Communications of the European Neurological Society

No evidence for an association between genetic variation at the MMP2 and MMP9 loci and aneurysmal subarachnoid haemorrhage

The pedunculopontine nucleus is related to visual hallucinations in Parkinson’s disease: preliminary results of a voxel-based morphometry study

Stiff person syndrome (SPS) complicated by respiratory failure: successful treatment with rituximab

Dramatic response to zonisamide of post-subarachnoid hemorrhage Holmes’ tremor

New hands at the helm