Top

Journal of Neurology

Published in:

01-09-2014 | Letter to the Editors

Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)-like phenotype in a patient with a novel heterozygous POLG mutation

Authors: Pankaj Prasun, Dwight D. Koeberl

Published in: Journal of Neurology | Issue 9/2014

Excerpt

Dear Sirs, …

Stumpf JD, Saneto RP, Copeland WC (2013) Clinical and molecular features of POLG-related mitochondrial disease. Cold Spring Harb Perspect Biol 5:a011395PubMedCentralCrossRefPubMed

Van Goethem G, Schwartz M, Löfgren A, Dermaut B, Van Broeckhoven C, Vissing J (2003) Novel POLG mutations in progressive external ophthalmoplegia mimicking mitochondrial neurogastrointestinal encephalomyopathy. Eur J Hum Genet 11:547–549CrossRefPubMed

Tang S, Dimberg EL, Milone M, Wong LJ (2012) Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)-like phenotype: an expanded clinical spectrum of POLG1 mutations. J Neurol 259:862–868CrossRefPubMed

Hirano M, Nishigaki Y, Martí R (2004) Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): a disease of two genomes. Neurologist 10:8–17CrossRefPubMed

Shaibani A, Shchelochkov OA, Zhang S, Katsonis P, Lichtarge O, Wong LJ, Shinawi M (2009) Mitochondrial neurogastrointestinal encephalopathy due to mutations in RRM2B. Arch Neurol 66:1028–1032PubMedCentralCrossRefPubMed

Spelbrink JN, Toivonen JM, Hakkaart GA, Kurkela JM, Cooper HM, Lehtinen SK, Lecrenier N, Back JW, Speijer D, Foury F, Jacobs HT (2000) In vivo functional analysis of the human mitochondrial DNA polymerase POLG expressed in cultured human cells. J Biol Chem 275:24818–24828CrossRefPubMed

Wanrooij S, Goffart S, Pohjoismäki JL, Yasukawa T, Spelbrink JN (2007) Expression of catalytic mutants of the mtDNA helicase Twinkle and polymerase POLG causes distinct replication stalling phenotypes. Nucleic Acids Res 35:3238–3251PubMedCentralCrossRefPubMed

Wong LJ (2012) Mitochondrial syndromes with leukoencephalopathies. Semin Neurol 32:55–61CrossRefPubMed

Di Donato S (2009) Multisystem manifestations of mitochondrial disorders. J Neurol 256:693–710CrossRefPubMed

10.

Echaniz-Laguna A, Chassagne M, de Sèze J, Mohr M, Clerc-Renaud P, Tranchant C, Mousson de Camaret B (2010) POLG1 variations presenting as multiple sclerosis. Arch Neurol 67:1140–1143CrossRefPubMed

Title: Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)-like phenotype in a patient with a novel heterozygous POLG mutation
Authors: Pankaj Prasun
Dwight D. Koeberl
Publication date: 01-09-2014
Publisher: Springer Berlin Heidelberg
Published in: Journal of Neurology / Issue 9/2014
Print ISSN: 0340-5354
Electronic ISSN: 1432-1459
DOI: https://doi.org/10.1007/s00415-014-7428-2

At a glance: The STEP trials

Springer Medicine

Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)-like phenotype in a patient with a novel heterozygous POLG mutation

Excerpt

At a glance: The STEP trials

Springer Medicine

Excerpt

Please log in to get access to this content

Other articles of this Issue 9/2014

Teriflunomide reduces relapses with sequelae and relapses leading to hospitalizations: results from the TOWER study

Wilhelm Heinrich Erb (1840–1921)

Longitudinal MRI and neuropsychological assessment of patients with clinically isolated syndrome

Short rapid steps to provoke freezing of gait in Parkinson’s disease

Autoantibodies involved in neuropsychiatric manifestations associated with systemic lupus erythematosus: a systematic review

Stroke: an update