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Original Article

Second mutation in PARK2 is absent in patients with sporadic Parkinson's disease and heterozygous exonic deletions/duplications in parkin gene

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Pages 781-784 | Received 27 Jul 2016, Accepted 28 Oct 2016, Published online: 16 Nov 2016

References

  • Singleton AB, Farrer MJ, Bonifati V. The genetics of Parkinson's disease: progress and therapeutic implications. Mov Disord 2013;28:14–23. Epub 2013/02/08.
  • Healy DG, Wood NW, Schapira AH. Test for LRRK2 mutations in patients with Parkinson's disease. Pract Neurol 2008;8:381–5. Epub 2008/11/19.
  • Kalinderi K, Bostantjopoulou S, Fidani L. The genetic background of Parkinson's disease: current progress and future prospects. Acta Neurol Scand 2016;134:314–26.
  • Lucking CB, Durr A, Bonifati V, et al. Association between early-onset Parkinson's disease and mutations in the parkin gene. N Engl J Med 2000;342:1560–7. Epub 2000/05/29.
  • Periquet M, Latouche M, Lohmann E, et al. Parkin mutations are frequent in patients with isolated early-onset parkinsonism. Brain 2003;126:1271–8. Epub 2003/05/24.
  • Kilarski LL, Pearson JP, Newsway V, et al. Systematic review and UK-based study of PARK2 (parkin), PINK1, PARK7 (DJ-1) and LRRK2 in early-onset Parkinson's disease. Mov Disord 2012;27:1522–9. Epub 2012/09/08.
  • Goetz CG, Poewe W, Rascol O, et al. Movement disorder society task force report on the Hoehn and Yahr staging scale: status and recommendations. Mov Disord 2004;19:1020–8. Epub 2004/09/17.
  • Nuytemans K, Theuns J, Cruts M, Van Broeckhoven C. Genetic etiology of Parkinson disease associated with mutations in the SNCA, PARK2, PINK1, PARK7, and LRRK2 genes: a mutation update. Hum Mutat 2010;31:763–80. Epub 2010/05/28.
  • Oliveira SA, Scott WK, Martin ER, et al. Parkin mutations and susceptibility alleles in late-onset Parkinson's disease. Ann Neurol 2003;53:624–9. Epub 2003/05/06.
  • Hedrich K, Eskelson C, Wilmot B, et al. Distribution, type, and origin of Parkin mutations: review and case studies. Mov Disord 2004;19:1146–57. Epub 2004/09/25.
  • Spatola M, Wider C. Genetics of Parkinson's disease: the yield. Parkinsonism Relat Disord 2014;20:S35–8.
  • Clark LN, Afridi S, Karlins E, et al. Case-control study of the parkin gene in early-onset Parkinson disease. Arch Neurol 2006;63:548–52. Epub 2006/04/12.
  • Kay DM, Stevens CF, Hamza TH, et al. A comprehensive analysis of deletions, multiplications, and copy number variations in PARK2. Neurology 2010;75:1189–94. Epub 2010/09/30.
  • Lincoln SJ, Maraganore DM, Lesnick TG, et al. Parkin variants in North American Parkinson's disease: cases and controls. Mov Disord 2003;18:1306–11. Epub 2003/11/26.
  • Guo JF, Zhang XW, Nie LL, et al. Mutation analysis of Parkin, PINK1 and DJ-1 genes in Chinese patients with sporadic early onset parkinsonism. J Neurol 2010;257:1170–5. Epub 2010/02/11.
  • Wu RM, Bounds R, Lincoln S, et al. Parkin mutations and early-onset parkinsonism in a Taiwanese cohort. Arch Neurol 2005;62:82–7. Epub 2005/01/12.
  • West A, Periquet M, Lincoln S, et al. Complex relationship between Parkin mutations and Parkinson disease. Am J Med Genet 2002;114:584–91. Epub 2002/07/13.
  • Hilker R, Klein C, Ghaemi M, et al. Positron emission tomographic analysis of the nigrostriatal dopaminergic system in familial parkinsonism associated with mutations in the parkin gene. Ann Neurol 2001;49:367–76. Epub 2001/03/23.
  • Fahn BSER, Committee MotUD. Unified Parkinson's disease rating scale. Recent Dev Parkinson's Dis. 1987;2:153–64.
  • Hughes AJ, Daniel SE, Kilford L, Lees AJ. Accuracy of clinical diagnosis of idiopathic Parkinson's disease: a clinico-pathological study of 100 cases. J Neurol Neurosurg Psychiatry 1992;55:181–4. Epub 1992/03/01.
  • Shadrina MI, Semenova EV, Slominsky PA, et al. Effective quantitative real-time polymerase chain reaction analysis of the parkin gene (PARK2) exon 1-12 dosage. BMC Med Genet 2007;8:6. Epub 2007/02/28.
  • Filatova EV, Alieva A, Shadrina MI, et al. Analysis of mutations in patients with suspected autosomal dominant form of the Parkinson disease. Mol Gen Mikrobiol Virusol 2014;29:3–4.
  • Sun M, Latourelle JC, Wooten GF, et al. Influence of heterozygosity for parkin mutation on onset age in familial Parkinson disease: the GenePD study. Arch Neurol 2006;63:826–32.
  • Bruggemann N, Mitterer M, Lanthaler AJ, et al. Frequency of heterozygous Parkin mutations in healthy subjects: need for careful prospective follow-up examination of mutation carriers. Parkinsonism Relat Disord 2009;15:425–9.
  • Wang Y, Clark LN, Louis ED, et al. Risk of Parkinson disease in carriers of parkin mutations: estimation using the kin-cohort method. Arch Neurol 2008;65:467–74.
  • Kay DM, Moran D, Moses L, et al. Heterozygous parkin point mutations are as common in control subjects as in Parkinson's patients. Ann Neurol 2007;61:47–54. Epub 2006/12/26.
  • Lesage S, Lohmann E, Tison F, et al. Rare heterozygous parkin variants in French early-onset Parkinson disease patients and controls. J Med Genet 2008;45:43–6. Epub 2007/09/04.
  • Nuytemans K, Meeus B, Crosiers D, et al. Relative contribution of simple mutations vs. copy number variations in five Parkinson disease genes in the Belgian population. Hum Mutat 2009;30:1054–61.
  • Pankratz N, Dumitriu A, Hetrick KN, et al. Copy number variation in familial Parkinson disease. PLoS One 2011;6:e20988. Epub 2011/08/11.
  • Lucking CB, Chesneau V, Lohmann E, et al. Coding polymorphisms in the parkin gene and susceptibility to Parkinson disease. Arch Neurol 2003;60:1253–6.
  • Illarioshkin SN, Shadrina MI, Slominsky PA, et al. A common leucine-rich repeat kinase 2 gene mutation in familial and sporadic Parkinson's disease in Russia. Eur J Neurol 2007;14:413–7.
  • Huttenlocher J, Stefansson H, Steinberg S, et al. Heterozygote carriers for CNVs in PARK2 are at increased risk of Parkinson's disease. Hum Mol Genet 2015;24:5637–43.
  • Klein C, Lohmann-Hedrich K, Rogaeva E, et al. Deciphering the role of heterozygous mutations in genes associated with parkinsonism. Lancet Neurol 2007;6:652–62.
  • Chu MK, Kim WC, Choi JM, et al. Analysis of dosage mutation in PARK2 among Korean patients with early-onset or familial Parkinson's disease. J Clin Neurol 2014;10:244–8. Epub 2014/07/22.
  • Brooks J, Ding J, Simon-Sanchez J, et al. Parkin and PINK1 mutations in early-onset Parkinson's disease: comprehensive screening in publicly available cases and control. J Med Genet 2009;46:375–81. Epub 2009/04/09.
  • Pankratz N, Kissell DK, Pauciulo MW, et al. Parkin dosage mutations have greater pathogenicity in familial PD than simple sequence mutations. Neurology 2009;73:279–86. Epub 2009/07/29.

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