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Journal of Neurology
Published in: Journal of Neurology 9/2007

Open Access 01-09-2007 | LETTER TO THE EDITORS

Small-fiber neuropathy and the 3243A>G mutation in mitochondrial DNA

Authors: F. Henning, P. L. Oey, W. G. Oerlemans, J. H. J. Wokke

Published in: Journal of Neurology | Issue 9/2007

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Excerpt

Sirs: The 3243A>G point mutation in mitochondrial DNA (mtDNA) is associated with the MELAS (mitochondrial encephalopathy with lactic acidosis and stroke-like episodes) syndrome, and sometimes with additional phenotypes like a sensorimotor polyneuropathy [4, 6]. The occurrence of a small-fiber peripheral neuropathy as the presenting clinical manifestation of a 3243A>G point mutation in mtDNA has, according to our knowledge, not been described previously. …
Literature
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Chinnery PF, Howell N, Lightowlers RN, Turnbull DM (1997) Molecular pathology of MELAS and MERRF. The relationship between mutation load and clinical phenotypes. Brain 120( Pt 10):1713–1721CrossRefPubMed
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Coleman M (2005) Axon degeneration mechanisms: commonality amid diversity. Nat Rev Neurosci 6:889–898CrossRefPubMed
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Ikegami K, Koike T (2003) Non-apoptotic neurite degeneration in apoptotic neuronal death: pivotal role of mitochondrial function in neurites. Neuroscience 122:617–626CrossRefPubMed
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Karppa M, Syrjala P, Tolonen U, Majamaa K (2003) Peripheral neuropathy in patients with the 3243A>G mutation in mitochondrial DNA. J Neurol 250:216–221CrossRefPubMed
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Kaufmann P, Pascual JM, Anziska Y, Gooch CL, Engelstad K, Jhung S, DiMauro S, De V (2006) Nerve conduction abnormalities in patients with MELAS and the A3243G mutation. Arch Neurol 63:746–748CrossRefPubMed
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Yiannikas C, McLeod JG, Pollard JD, Baverstock J (1986) Peripheral neuropathy associated with mitochondrial myopathy. Ann Neurol 20:249–257CrossRefPubMed
Metadata
Title
Small-fiber neuropathy and the 3243A>G mutation in mitochondrial DNA
Authors
F. Henning
P. L. Oey
W. G. Oerlemans
J. H. J. Wokke
Publication date
01-09-2007
Publisher
Steinkopff-Verlag
Published in
Journal of Neurology / Issue 9/2007
Print ISSN: 0340-5354
Electronic ISSN: 1432-1459
DOI
https://doi.org/10.1007/s00415-006-0487-2

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