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

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• 作者：Barton R. Brandon (1)
  Nico J. Diederich (2)
  Madhu Soni (1)
  Katrin Witte (3)
  Manja Weinhold (3)
  Micaela Krause (3)
  Sandra Jackson (3)
  
• 刊名：Journal of Neurology
• 出版年：2013
• 出版时间：July 2013
• 年：2013
• 卷：260
• 期：7
• 页码：1931-1933
• 全文大小：240KB
• 参考文献：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鈥?19 CrossRef
  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鈥?626 CrossRef
  3. Blok MJ, van den Bosch BJ, Jongen E et al (2009) The unfolding clinical spectrum of POLG mutations. J Med Genet 46:776鈥?85 CrossRef
  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鈥?76
  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鈥?000 CrossRef
  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鈥?09 CrossRef
  7. Orsucci D, Caldarazzo Ienco E, Mancuso M, Siciliano G (2011) POLG1-related and other 鈥渕itochondrial Parkinsonisms鈥? an overview. J Mol Neurosci 44:17鈥?4 CrossRef
  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鈥?332 CrossRef
  9. Milone M, Wang J, Liewluck T et al (2011) Novel POLG splice site mutation and optic atrophy. Arch Neurol 686:806鈥?11 CrossRef
  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鈥?54 CrossRef
  11. Wong LJ (2012) Mitochondrial syndromes with leukoencephalopathies. Semin Neurol 32:55鈥?1 CrossRef
  12. Van Goethem G, Luoma P, Rantam盲ki M et al (2004) POLG mutations in neurodegenerative disorders with ataxia but no muscle involvement. Neurology 63:1251鈥?257 CrossRef
  13. Echaniz-Laguna A, Chassagne M, de S猫ze J et al (2010) POLG1 variations presenting as multiple sclerosis. Arch Neurol 67:1140鈥?143 CrossRef
  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鈥?67 CrossRef
  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鈥?41 CrossRef
  
• 作者单位：Barton R. Brandon (1)
  Nico J. Diederich (2)
  Madhu Soni (1)
  Katrin Witte (3)
  Manja Weinhold (3)
  Micaela Krause (3)
  Sandra Jackson (3)
  
  1. Rush University Medical Center, Chicago, IL, USA
  2. Centre Hospitalier de Luxembourg and Luxembourg Center for Systems Biomedicine, Luxembourg-City, Luxembourg
  3. Mitochondrial Disease Group, Department of Neurology, Uniklinikum CG Carus, TU Dresden, Fetscherstrasse 74, 01309, Dresden, Germany
  

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