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Research Article

TOR1A polymorphisms in a Russian cohort with primary focal/segmental dystonia

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Pages 671-677 | Received 28 Jun 2014, Accepted 03 Sep 2014, Published online: 02 Oct 2014

References

  • Fahn S, Marsden CD, Calne DB. Focal dystonia. In: Marsden CD, Fahn S, ed. Movement Disorders 2. London: Butterworths; 1987:332–58.
  • Albanese A, Asmus F, Bhatia KP, et al. EFNS guidelines on diagnosis and treatment of primary dystonias. Eur J Neurol 2011;18:5–18.
  • Nutt JG, Muenter MD, Melton LJ, et al. Epidemiology of dystonia in Rochester, Minnesota. Adv Neurol 1988;50: 361–5.
  • Epidemiological Study of Dystonia in Europe (ESDE) Collaborative Group. A prevalence study of primary dystonia in eight European countries. J Neurol 2000;247:787–92.
  • Schmidt A, Klein C. The role of genes in causing dystonia. Eur J Neurol 2010;17:65–70.
  • Ozelius LJ, Lubarr N, Bressman SB. Milestones in dystonia. Mov Disord 2011;26:1106–26.
  • Lohmann K, Klein C. Genetics of dystonia: What's known? What's new? What's next? Mov Disord 2013;28:899–905.
  • Clarimon J, Asgeirsson H, Singleton A, et al. Torsin A haplotype predisposes to idiopathic dystonia. Ann Neurol 2005;57:765–7.
  • Clarimon J, Brancati F, Peckham E, et al. Assessing the role of DRD5 and DYT1 in two different case–control series with primary blepharospasm. Mov Disord 2007;22:162–6.
  • Kamm C, Fischer H, Garavaglia B, et al. Susceptibility to DYT1 dystonia in European patients is modified by the D216H polymorphism. Neurology 2008;70:2261–2.
  • Brüggemann N, Kock N, Lohmann et al. The D216H variant in the DYT1 gene: a susceptibility factor for dystonia in familial cases? Neurology 2009;72:1441–3.
  • Sharma N, Franco RA, Kuster JK, et al. Genetic evidence for an association of the TOR1A locus with segmental/focal dystonia. Mov Disord 2010;25:2183–7.
  • Groen JL, Ritz K, Tanck MW, et al. Is TOR1A a risk factor in adult-onset primary torsion dystonia? Mov Disord 2013;28:827–31.
  • Ozelius LJ, Hewett JW, Page CE, et al. The early-onset torsion dystonia gene (DYT1) encodes an ATP-binding protein. Nat Genet 1997;17:40–8.
  • Defazio G, Martino D, Aniello MS, et al. Planning genetic studies on primary adult-onset dystonia: sample size estimates based on examination of first-degree relatives. J Neurol Sci 2006;251:29–34.
  • Friedman A, Fahn S. Spontaneous remissions in spasmodic torticollis. Neurology 1986;36:398–400.
  • Grandas F, Elston J, Quinn N, Marsden CD. Blepharospasm: a review of 264 patients. J Neurol Neurosurg Psychiatry 1988;51:767–72.
  • Waddy H, Fletcher NA, Harding AE, Marsden CD. A genetic study of idiopathic focal dystonias. Ann Neurol 1991;29:320–4.
  • Lim VK, Altenmuller E, Bradshaw JL. Focal dystonia: Current theories. Human Movement Sci 2001;20:875–914.
  • Leube B, Kessler KR, Goecke T, et al. Frequency of familial inheritance among 488 index patients with idiopathic focal dystonia and clinical variability in a large family. Mov Disord 1997;12:1000–6.
  • Sibbing D, Asmus F, König IR, et al. Candidate gene studies in focal dystonia. Neurology 2003;61:1097–101.
  • Kamm C, Asmus F, Mueller J, et al. Strong genetic evidence for association of TOR1A/TOR1B with idiopathic dystonia. Neurology 2006;67:1857–9.
  • Hague S, Klaffke S, Clarimon J, et al. Lack of association with TorsinA haplotype in German patients with sporadic dystonia. Neurology 2006;66:951–2.
  • Chen Y, Chen K, Burgunder JM, et al. Association of rs1182 polymorphism of the DYT1 gene with primary dystonia in Chinese population. J Neurol Sci 2012;323:228–31.
  • Frederic MY, Clot F, Blanchard A, et al. The pAsp216His TOR1A allele effect is not found in the French population. Mov Disord 2009;24:919–21.
  • Risch N, Bressman SB, Senthil G, Ozelius LJ. Intragenic cis and trans modification of genetic susceptibility in DYT1 torsion dystonia. Am J Hum Genet 2007;80:1188–93.
  • Caputo M, Irisarri M, Perandones C, et al. Analysis of D216H polymorphism in Argentinean patients with primary dystonia. J Neurogenet 2013;27:16–8.
  • Cheng FB, Wan XH, Zhang Y, et al. TOR1A sequence variants and the association with early-onset primary dystonia in the Chinese Han population. Parkinsonism Relat Disord 2013;19:399–401.
  • Chen Y, Burgunder JM, Song W, et al. Assessment of D216H DYT1 polymorphism in a Chinese primary dystonia patient cohort. Eur J Neurol 2012;19:924–6.
  • DeFazio G, Matarin M, Peckham EL, et al. The TOR1A polymorphism rs1182 and the risk of spread in primary blepharospasm. Mov Disord 2009;24:613–6.

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