Skip to main content

Advertisement

Log in

Autosomal dominant mutations in POLG and C10orf2: association with late onset chronic progressive external ophthalmoplegia and Parkinsonism in two patients

  • Letter to the Editors
  • Published:
Journal of Neurology Aims and scope Submit manuscript

This is a preview of subscription content, log in via an institution to check access.

Access this article

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

Fig. 1
Fig. 2

References

  1. 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

    Article  PubMed  CAS  Google Scholar 

  2. 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

    Article  PubMed  CAS  Google Scholar 

  3. Blok MJ, van den Bosch BJ, Jongen E et al (2009) The unfolding clinical spectrum of POLG mutations. J Med Genet 46:776–785

    Article  PubMed  CAS  Google Scholar 

  4. 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

    Google Scholar 

  5. 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

    Article  PubMed  Google Scholar 

  6. 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

    Article  PubMed  Google Scholar 

  7. Orsucci D, Caldarazzo Ienco E, Mancuso M, Siciliano G (2011) POLG1-related and other “mitochondrial Parkinsonisms”: an overview. J Mol Neurosci 44:17–24

    Article  PubMed  CAS  Google Scholar 

  8. 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

    Article  PubMed  Google Scholar 

  9. Milone M, Wang J, Liewluck T et al (2011) Novel POLG splice site mutation and optic atrophy. Arch Neurol 686:806–811

    Article  Google Scholar 

  10. 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

    Article  Google Scholar 

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

    Article  PubMed  Google Scholar 

  12. 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

    Article  PubMed  Google Scholar 

  13. Echaniz-Laguna A, Chassagne M, de Sèze J et al (2010) POLG1 variations presenting as multiple sclerosis. Arch Neurol 67:1140–1143

    Article  PubMed  Google Scholar 

  14. 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

    Article  PubMed  Google Scholar 

  15. 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

    Article  PubMed  Google Scholar 

Download references

Conflicts of interest

On behalf of all authors, the corresponding author states that there is no conflict of interest.

Ethical standard

The study has been performed in accordance with the ethical standards laid down in the 1964 Declaration of Helsinki.

Author information

Authors and Affiliations

Authors

Corresponding author

Correspondence to Sandra Jackson.

Rights and permissions

Reprints and permissions

About this article

Cite this article

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

Download citation

  • Received:

  • Revised:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s00415-013-6975-2

Keywords

Navigation