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

Journal of Neurology

Volumn 261, Issue 9, 2014, Pages 1818-1819

  Prasun, Pankaj ^a   Koeberl, Dwight D ^a  

^a DUKE UNIVERSITY MEDICAL CENTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

POLG PROTEIN; PROTEIN; TESTOSTERONE; UNCLASSIFIED DRUG; DNA DIRECTED DNA POLYMERASE; POLG PROTEIN, HUMAN;

ADULT; ARM WEAKNESS; CACHEXIA; CASE REPORT; CELIAC DISEASE; CHRONIC DIARRHEA; DERMATITIS HERPETIFORMIS; DISEASE SEVERITY; ELECTROMYOGRAPHY; GASTROINTESTINAL MOTILITY DISORDER; GENE; GENE MUTATION; GENE SEQUENCE; HETEROZYGOTE; HUMAN; HYPOGONADISM; HYPOTHYROIDISM; LETTER; MALE; MITOCHONDRIAL GENOME; MNGIE SYNDROME; MUSCLE BIOPSY; NUCLEAR MAGNETIC RESONANCE IMAGING; OSTEOPENIA; PATIENT HISTORY OF CATARACT SURGERY; POLG GENE; PRIORITY JOURNAL; PTOSIS; RASH; SENSORY NEUROPATHY; WEIGHT GAIN; WEIGHT REDUCTION; BRAIN; GENETICS; MITOCHONDRIAL ENCEPHALOMYOPATHIES; MUTATION; PATHOLOGY; PHENOTYPE;

ADULT; BRAIN; DNA-DIRECTED DNA POLYMERASE; HETEROZYGOTE; HUMANS; MAGNETIC RESONANCE IMAGING; MALE; MITOCHONDRIAL ENCEPHALOMYOPATHIES; MUTATION; PHENOTYPE;

EID: 84920986301     PISSN: 03405354     EISSN: 14321459     Source Type: Journal    
DOI: 10.1007/s00415-014-7428-2     Document Type: Letter

References (10)

1. Stumpf JD, Saneto RP, Copeland WC (2013) Clinical and molecular features of POLG-related mitochondrial disease. Cold Spring Harb Perspect Biol 5:a011395
2. 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 11:547–549
3. Tang S, Dimberg EL, Milone M, Wong LJ (2012) Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)-like phenotype: an expanded clinical spectrum of POLG1 mutations. J Neurol 259:862–868
4. Hirano M, Nishigaki Y, Martí R (2004) Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): a disease of two genomes. Neurologist 10:8–17
5. 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 66:1028–1032
6. 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 275:24818–24828
7. 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 35:3238–3251
8. Wong LJ (2012) Mitochondrial syndromes with leukoencephalopathies. Semin Neurol 32:55–61
9. Di Donato S (2009) Multisystem manifestations of mitochondrial disorders. J Neurol 256:693–710
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 67:1140–1143