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18.07.2020 | Original Communication

Liver transplantation in mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): clinical long-term follow-up and pathogenic implications

verfasst von: Roberto D’Angelo, Elisa Boschetti, Giulia Amore, Roberta Costa, Alessia Pugliese, Leonardo Caporali, Laura Ludovica Gramegna, Valentina Papa, Luca Vizioli, Mariantonietta Capristo, Manuela Contin, Susan Mohamed, Giovanna Cenacchi, Raffaele Lodi, Maria Cristina Morelli, Luca Fasano, Lara Pisani, Matteo Cescon, Caterina Tonon, Antonio Daniele Pinna, Maria Teresa Dotti, Francesco Sicurelli, Mauro Scarpelli, Massimiliano Filosto, Carlo Casali, Loris Pironi, Valerio Carelli, Roberto De Giorgio, Rita Rinaldi

Erschienen in: Journal of Neurology | Ausgabe 12/2020

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Abstract

We report the longest follow-up of clinical and biochemical features of two previously reported adult mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) patients treated with liver transplantation (LT), adding information on a third, recently transplanted, patient. All three patients overcame the early post-operative period and tolerated immunosuppressive therapy. Plasma nucleoside levels dramatically decreased, with evidence of clinical improvement of ambulation and neuropathy. Conversely, other features of MNGIE, as gastrointestinal dysmotility, low weight, ophthalmoparesis, and leukoencephalopathy were essentially unchanged. A similar picture characterized two patients treated with allogenic hematopoietic stem cell transplantation (AHSCT). In conclusion, LT promptly and stably normalizes nucleoside imbalance in MNGIE, stabilizing or improving some clinical parameters with marginal periprocedural mortality rate as compared to AHSCT. Nevertheless, restoring thymidine phosphorylase (TP) activity, achieved by both LT and AHSCT, does not allow a full clinical recovery, probably due to consolidated cellular damage and/or incomplete enzymatic tissue replacement.

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Titel: Liver transplantation in mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): clinical long-term follow-up and pathogenic implications
verfasst von: Roberto D’Angelo
Elisa Boschetti
Giulia Amore
Roberta Costa
Alessia Pugliese
Leonardo Caporali
Laura Ludovica Gramegna
Valentina Papa
Luca Vizioli
Mariantonietta Capristo
Manuela Contin
Susan Mohamed
Giovanna Cenacchi
Raffaele Lodi
Maria Cristina Morelli
Luca Fasano
Lara Pisani
Matteo Cescon
Caterina Tonon
Antonio Daniele Pinna
Maria Teresa Dotti
Francesco Sicurelli
Mauro Scarpelli
Massimiliano Filosto
Carlo Casali
Loris Pironi
Valerio Carelli
Roberto De Giorgio
Rita Rinaldi
Publikationsdatum: 18.07.2020
Verlag: Springer Berlin Heidelberg
Erschienen in: Journal of Neurology / Ausgabe 12/2020
Print ISSN: 0340-5354
Elektronische ISSN: 1432-1459
DOI: https://doi.org/10.1007/s00415-020-10051-x

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Liver transplantation in mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): clinical long-term follow-up and pathogenic implications

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