References
Lamantea E, Tiranti V, Bordoni A et al (2002) Mutations of mitochondrial DNA polymerase gamma A are a frequent cause of autosomal dominant or recessive progressive external ophthalmoplegia. Ann Neurol 52:211–219
Fratter C, Gorman GS, Stewart JD et al (2010) The clinical, histochemical, and molecular spectrum of PEO1 (Twinkle)-linked ad PEO. Neurology 74:1619–1626
Blok MJ, van den Bosch BJ, Jongen E et al (2009) The unfolding clinical spectrum of POLG mutations. J Med Genet 46:776–785
Van Goethem G, Lofgren A, Dermaut B et al (2003) Digenic progressive external ophthalmoplegia in a sporadic patient: recessive mutations in POLG and C10orf2/Twinkle. Human Mut 22:175–176
Baloh RH, Salavaggione E, Milbrandt J, Pestronk A (2007) Familial Parkinsonism and ophthalmoplegia from a mutation in the mitochondrial DNA helicase twinkle. Arch Neurol 64:998–1000
Vandenberghe W, Van Laere K, Van Broeckhoven C, Van Goethem G (2009) Neurodegenerative Parkinsonism and progressive external ophthalmoplegia with a Twinkle mutation. Mov Disord 24:308–309
Orsucci D, Caldarazzo Ienco E, Mancuso M, Siciliano G (2011) POLG1-related and other “mitochondrial Parkinsonisms”: an overview. J Mol Neurosci 44:17–24
Sato K, Yabe I, Yaguchi H et al (2011) Genetic analysis of two Japanese families with progressive external ophthalmoplegia and Parkinsonism. J Neurol 258:1327–1332
Milone M, Wang J, Liewluck T et al (2011) Novel POLG splice site mutation and optic atrophy. Arch Neurol 686:806–811
Gurgel-Giannetti J, Camargos ST, Cardoso F et al (2012) POLG1 Arg953Cys mutation: expanded phenotype and recessive inheritance in a Brazilian family. Muscle Nerve 453:453–454
Wong LJ (2012) Mitochondrial syndromes with leukoencephalopathies. Semin Neurol 32:55–61
Van Goethem G, Luoma P, Rantamäki M et al (2004) POLG mutations in neurodegenerative disorders with ataxia but no muscle involvement. Neurology 63:1251–1257
Echaniz-Laguna A, Chassagne M, de Sèze J et al (2010) POLG1 variations presenting as multiple sclerosis. Arch Neurol 67:1140–1143
Van Hove JL, Cunningham V, Rice C et al (2009) Finding twinkle in the eyes of a 71-year-old lady: a case report and review of the genotypic and phenotypic spectrum of TWINKLE-related dominant disease. Am J Med Genet A 149A:861–867
Martin-Negrier ML, Sole G, Jardel C et al (2011) TWINKLE gene mutation: report of a French family with an autosomal dominant progressive external ophthalmoplegia and literature review. Eur J Neurol 18:436–441
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On behalf of all authors, the corresponding author states that there is no conflict of interest.
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The study has been performed in accordance with the ethical standards laid down in the 1964 Declaration of Helsinki.
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Brandon, B.R., Diederich, N.J., Soni, M. et al. Autosomal dominant mutations in POLG and C10orf2: association with late onset chronic progressive external ophthalmoplegia and Parkinsonism in two patients. J Neurol 260, 1931–1933 (2013). https://doi.org/10.1007/s00415-013-6975-2
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DOI: https://doi.org/10.1007/s00415-013-6975-2