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Published online before print September 13, 2006, doi:10.1212/01.wnl.0000239824.95411.52)
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NEUROLOGY 2006;67:1461-1463
© 2006 American Academy of Neurology
Brief Communications

Infusion of platelets transiently reduces nucleoside overload in MNGIE

M. C. Lara, BS, B. Weiss, MD, I. Illa, MD, PhD, P. Madoz, MD, PhD, L. Massuet, MD, A. L. Andreu, MD, PhD, M. L. Valentino, MD, Y. Anikster, MD, M. Hirano, MD and R. Martí, PhD

From Laboratori de Patologia Neuromuscular i Mitocondrial, Institut de Recerca Hospital Universitari Vall d'Hebron, Barcelona, Spain (M.C.L., A.L.A., R.M.); Department of Pediatrics, Safra Children's Hospital, Tel-Hashomer, and Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel (B.W., Y.A.); Servei de Neurologia (I.I.) and Servei d'Hematologia (P.M.), Hospital Universitari de la Santa Creu i Sant Pau, Barcelona, Spain; Centre de Transfusió i Banc de Teixits, Barcelona, Spain (L.M.); and Department of Neurology, Columbia University College of Physicians and Surgeons, New York, NY (M.L.V., M.H.).

Address correspondence to and reprint requests to Dr. Ramon Martí, Laboratori de Patologia Neuromuscular i Mitocondrial, Institut de Recerca Hospital Universitari Vall d'Hebron, Pg. Vall d'Hebron 119, 08035 Barcelona, Spain; e-mail: rmarti{at}ir.vhebron.net

Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is caused by thymidine phosphorylase (TP) deficiency, which leads to toxic accumulations of thymidine (dThd) and deoxyuridine (dUrd). In this work, we report that infusion of platelets from healthy donors to patients with MNGIE restored transiently circulating TP and reduced plasma dThd and dUrd levels, suggesting that treatments to achieve permanent restoration of circulating TP such as allogeneic stem cell transplantation or gene transfer might be therapeutic.

Editorial, see page 1330

See also page 1458

Additional material related to this article can be found on the Neurology Web site. Go to www.neurology.org and scroll down the Table of Contents for the October 24 issue to find the title link for this article.

This article was previously published in electronic format as an Expedited E-Pub on September 13, 2006, at www.neurology.org

This work was supported by grants from the United Mitochondrial Disease Foundation (04-42), the Spanish Fondo de Investigación Sanitaria (PI 03/0343 and CP 04/0242), NIH Grant P01NS11766, Muscular Dystrophy Association, and the Marriott Mitochondrial Disorder Clinical Research Fund.

Disclosure: The authors report no conflicts of interest.

Received March 22, 2006. Accepted in final form June 22, 2006.




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