Peripheral neuropathies due to mitochondrial disorders;Dysfonctions mitochondriales à l'origine de neuropathies périphériques

Revue Neurologique

Volumn 165, Issue 12, 2009, Pages 1118-1121

  Funalot, B ^a  

^a LIMOGES UNIVERSITY HOSPITAL   (France)

Author keywords

DNA polymerase gamma; Mitochondrial disorders; Mitochondrial DNA; Mitofusin; Peripheral neuropathies; POLG

Indexed keywords

MITOCHONDRIAL DNA; MITOFUSIN 2; THYMIDINE PHOSPHORYLASE;

DISORDERS OF MITOCHONDRIAL FUNCTIONS; DYSARTHRIA; ENCEPHALOMYOPATHY; GENE MUTATION; HUMAN; MITOCHONDRIAL MEMBRANE; OPHTHALMOPLEGIA; PERIPHERAL NEUROPATHY; REVIEW;

DNA, MITOCHONDRIAL; HUMANS; MELAS SYNDROME; MITOCHONDRIAL DISEASES; MUTATION; PERIPHERAL NERVOUS SYSTEM DISEASES;

EID: 71349083138     PISSN: 00353787     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.neurol.2009.10.001     Document Type: Review

References (11)

1. Bouillot S., Martin-Négrier M.L., Vital A., Ferrer X., Lagueny A., Vincent D., et al. Peripheral neuropathy associated with mitochondrial disorders: 8 cases and review of the literature. J Peripher Nerv Syst 7 (2002) 213-220
2. Chan D.C. Mitochondria: dynamic organelles in disease, aging, and development. Cell 125 (2006) 1241-1252
3. Fernyhough P., Huang T.J., and Verkhratsky A. Mechanism of mitochondrial dysfunction in diabetic sensory neuropathy. J Peripher Nerv Syst 8 (2003) 227-235
4. Hudson G., and Chinnery P.F. Mitochondrial DNA polymerase-gamma and human disease. Hum Mol Genet 15 (2006) R244-R252
5. Niemann A., Ruegg M., La Padula V., Schenone A., and Suter U. Ganglioside-induced differentiation associated protein 1 is a regulator of the mitochondrial network: new implications for Charcot-Marie-Tooth disease. J Cell Biol 170 (2005) 1067-1078
6. Nishino I., Spinazzola A., and Hirano M. Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder. Science 283 (1999) 689-692
7. Nishino I., Spinazzola A., Papadimitriou A., Hammans S., Steiner I., Hahn C.D., et al. Mitochondrial neurogastrointestinal encephalomyopathy: an autosomal recessive disorder due to thymidine phosphorylase mutations. Ann Neurol 47 (2000) 792-800
8. Vallat J.M., Ouvrier R.A., Pollard J.D., Magdelaine C., Zhu D., Nicholson G.A., et al. Histopathological findings in hereditary motor and sensory neuropathy of axonal type commencing in early childhood associated with mitofusin 2 mutations. J Neuropathol Exp Neurol 67 (2008) 1097-1102
9. Van Goethem G., Dermaut B., Löfgren A., Martin J.J., and Van Broeckhoven C. Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions. Nat Genet 28 (2001) 211-212
10. Züchner S., Mersiyanova I.V., Muglia M., Bissar-Tadmouri N., Rochelle J., Dadali E.L., et al. Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A. Nature Genetics 36 (2004) 449-451
11. Züchner S., De Jonghe P., Jordanova A., Claeys K.G., Guergueltcheva V., Cherninkova S., et al. Axonal neuropathy with optic atrophy is caused by mtations in mitofusin 2. Ann Neurol 59 (2006) 276-281