Skip to main content Accessibility help
  • Print publication year: 2011
  • Online publication date: August 2011

11 - Dystonic syndromes


1. Fahn S. Concept and classification of dystonia. Adv Neurol 1988; 50: 1–8.
2. Quinn N. Parkinsonism and dystonia, pseudo-parkinsonism and pseudodystonia. Adv Neurol 1993; 60: 540–3.
3. Ozelius LJ, Kramer PL, De Leon D et al. Strong allelic association between the torsion dystonia gene (DYT1) and loci on chromosome 9q34 in Ashkenazi Jews. Am J Hum Genet 1992; 50: 619–28.
4. Ozelius LJ, Hewett JW, Page CE et al. The early-onset torsion dystonia gene (DYT1) encodes an ATP-binding protein. Nat Genet 1997; 17: 40–48.
5. Klein C, Breakefield XO, Ozelius LJ. Genetics of primary dystonia. Semin Neurol 1999; 19: 271–80.
6. 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.
7. Wenning GK, Kiechl S, Seppi K et al. Prevalence of movement disorders in men and women aged 50–89 years (Bruneck Study cohort): a population-based study. Lancet Neurol 2005; 4: 815–20.
8. Ferraz HB, Andrade LA. Symptomatic dystonia: clinical profile of 46 Brazilian patients. Can J Neurol Sci 1992; 19: 504–507.
9. Brashear A, Dobyns WB, de Carvalho AP et al. The phenotypic spectrum of rapid-onset dystonia-parkinsonism (RDP) and mutations in the ATP1A3 gene. Brain 2007; 130: 828–35.
10. Djarmati A, Schneider SA, Lohmann K et al. Mutations in THAP1 (DYT6) are associated with generalised dystonia with prominent spasmodic dysphonia – a genetic screening study. Lancet Neurol 2009; 8: 447–52.
11. Demirkiran M, Jankovic J. Paroxysmal dyskinesias: clinical features and classification. Ann Neurol 1995; 38: 571–9.
12. Fahn S. The paroxysmal dyskinesias. In: Marsden CD, Fahn S, eds. Movement Disorders. Oxford: Butterworth Heinmann; 1994: 310–45.
13. Kiriakakis V, Bhatia KP, Quinn NP et al. The natural history of tardive dystonia. A long-term follow-up study of 107 cases. Brain 1998; 121(Pt 11): 2053–66.
14. Kabakci K, Hedrich K, Leung JC et al. Mutations in DYT1: extension of the phenotypic and mutational spectrum. Neurology 2004; 62: 395–400.
15. Almasy L, Bressman S, De Leon D. Ethnic variation in the clinical expression of idiopathic torsion dystonia. Mov Disord 1997; 12: 715–21.
16. Bressman SB, Sabatti C, Raymond D et al. The DYT1 phenotype and guidelines for diagnostic testing. Neurology 2000; 54: 1746–52.
17. Green P, Kang UJ, Fahn S. Spread of symptoms in idiopathic torsion dystonia. Mov Disord 1995; 10: 143–52.
18. Scott BL. Evaluation and treatment of dystonia. South Med J 2000; 93: 746–51.
19. Adler CH. Strategies for controlling dystonia. Postgrad Med 2000; 108: 151–60.
20. Anca MH, Zaccai TF, Badarna S et al. Natural history of Oppenheim’s dystonia (DYT1) in Israel. J Child Neurol 2003; 18: 325–30.
21. Greene P. Baclofen in the treatment of dystonia. Clin Neuropharmacol 1992; 15: 276–88.
22. Lee LV, Pascasio FM, Fuentes FD et al. Torsion dystonia in Panay, Philippines. Adv Neurol 1976; 14: 137–51.
23. Schneider SA, Bhatia K, Hardy J. Complicated recessive dystonia parkinsonism syndromes. Mov Disord 2009; 24: 490–9.
24. Grabowski M, Zimprich A, Lorenz-Depiereux B et al. The epsilon-sarcoglycan gene (SGCE), mutated in myoclonus-dystonia syndrome, is maternally imprinted. Eur J Hum Genet 2003; 11: 138–44.
25. Furukawa Y, Guttman M, Sparagana SP et al. Dopa-responsive dystonia due to a large deletion in the GTP cyclohydrolase I gene. Ann Neurol 2000; 47: 517–20.
26. Grunewald A, Djarmati A, Lohmann-Hedrich K et al. Myoclonus-dystonia: significance of large SGCE deletions. Hum Mutat 2008; 29: 331–2.
27. Risch N, de LD, Ozelius L et al. Genetic analysis of idiopathic torsion dystonia in Ashkenazi Jews and their recent descent from a small founder population. Nat Genet 1995; 9: 152–9.
28. Risch NJ, Bressman SB, Senthil G et al. Intragenic cis and trans modification of genetic susceptibility in DYT1 torsion dystonia. Am J Hum Genet 2007; 80: 1188–93.
29. Gasser T, Windgassen K, Bereznai B et al. Phenotypic expression of the DYT1 mutation: a family with writer’s cramp of juvenile onset. Ann Neurol 1998; 44: 126–28.
30. Edwards M, Wood N, Bhatia K. Unusual phenotypes in DYT1 dystonia: a report of five cases and a review of the literature. Mov Disord 2003; 18: 706–11.
31. Vale RD. AAA proteins. Lords of the ring. J Cell Biol 2000; 150: F13–F19.
32. Augood SJ, Keller-McGandy CE, Siriani A et al. Distribution and ultrastructural localization of torsinA immunoreactivity in the human brain. Brain Res 2003; 986: 12–21.
33. Bressman SB, Raymond D, Fuchs T et al. Mutations in THAP1 (DYT6) in early-onset dystonia: a genetic screening study. Lancet Neurol 2009; 8: 441–6.
34. Fuchs T, Gavarini S, Saunders-Pullman R et al. Mutations in the THAP1 gene are responsible for DYT6 primary torsion dystonia. Nat Genet 2009; 41: 286–8.
35. Almasy L, Bressman SB, Raymond D et al. Idiopathic torsion dystonia linked to chromosome 8 in two Mennonite families. Ann Neurol 1997; 42: 670–3.
36. Carbon M, Niethammer M, Peng S et al. Abnormal striatal and thalamic dopamine neurotransmission: Genotype-related features of dystonia. Neurology 2009; 72: 2097–103.
37. Cayrol C, Lacroix C, Mathe C et al. The THAP-zinc finger protein THAP1 regulates endothelial cell proliferation through modulation of pRB/E2F cell-cycle target genes. Blood 2007; 109.
38. Roussigne M, Cayrol C, Clouaire T et al. THAP1 is a nuclear proapoptotic factor that links prostate-apoptosis-response-4 (Par-4) to PML nuclear bodies. Oncogene 2003; 22: 2432–42.
39. Bessiere D, Lacroix C, Campagne S et al. Structure-function analysis of the THAP zinc finger of THAP1, a large C2CH DNA-binding module linked to Rb/E2F pathways. J Biol Chem 2008; 283: 4352–63.
40. Nygaard TG, Wooten GF. Dopa-responsive dystonia: some pieces of the puzzle are still missing. Neurology 1998; 50: 853–5.
41. Friedman J, Standaert DG. Neurogenetics of dystonia and paroxysmal dyskinesias. Neurogenetics: Scientific and Clinical Advances. New York: Marcel Dekker; 2005: 403–26.
42. Asmus F, Zimprich A, Tezenas Du MS et al. Myoclonus-dystonia syndrome: epsilon-sarcoglycan mutations and phenotype. Ann Neurol 2002; 52: 489–92.
43. Quinn NP, Rothwell JC, Thompson PD et al. Hereditary myoclonic dystonia, hereditary torsion dystonia and hereditary essential myoclonus: an area of confusion. Adv Neurol 1988; 50: 391–401.
44. Zimprich A, Grabowski M, Asmus F et al. Mutations in the gene encoding epsilon-sarcoglycan cause myoclonus-dystonia syndrome. Nat Genet. 2001; 29: 66–9.
45. Muller B, Hedrich K, Kock N et al. Evidence that paternal expression of the epsilon-sarcoglycan gene accounts for reduced penetrance in myoclonus-dystonia. Am J Hum Genet 2002; 71: 1303–11.
46. Hedrich K, Meyer EM, Schule B et al. Myoclonus-dystonia: detection of novel, recurrent, and de novo SGCE mutations. Neurology 2004; 62: 1229–31.
47. Asmus F, Hjermind LE, Dupont E et al. Genomic deletion size at the epsilon-sarcoglycan locus determines the clinical phenotype. Brain 2007; 130: 2736–45.
48. Grimes DA, Han F, Lang AE et al. A novel locus for inherited myoclonus-dystonia on 18p11. Neurology 2002; 59: 1183–6.
49. Schneider SA, Bhatia K. Paroxysmal dyskinesias – an overview. In: Jankovic J, Tolosa E, eds. Parkinson’s Disease and Movement Disorders. 5th ed. Philadelphia: Lippincott Williams & Wilkins; 2006: 459–67.
50. Altrocchi PH, Forno LS. Spontaneous oral-facial dyskinesia: neuropathology of a case. Neurology 1983; 33: 802–5.
51. Bhatia K, Daniel SE, Marsden CD. Orofacial dystonia and rest tremor in a patient with normal brain pathology. Mov Disord 1993; 8: 361–2.
52. Gibb WR, Lees AJ, Marsden CD. Pathological report of four patients presenting with cranial dystonias. Mov Disord 1988; 3: 211–21.
53. Kulisevsky J, Marti MJ, Ferrer I et al. Meige syndrome: neuropathology of a case. Mov Disord 1988; 3: 170–5.
54. Zweig RM, Hedreen JC, Jankel WR et al. Pathology in brainstem regions of individuals with primary dystonia. Neurology 1988; 38: 702–6.
55. Zweig RM, Hedreen JC. Brain stem pathology in cranial dystonia. Adv Neurol 1988; 49: 395–407.
56. McNaught KS, Kapustin A, Jackson T et al. Brainstem pathology in DYT1 primary torsion dystonia. Ann Neurol 2004; 56: 540–7.
57. Holton JL, Schneider SA, Ganesharajah T et al. Neuropathology of primary adult-onset dystonia. Neurology 2008; 70: 695–9.
58. Kaji R, Goto S, Tamiya G et al. Molecular dissection and anatomical basis of dystonia: X-linked recessive dystonia-parkinsonism (DYT3). J Med Invest 2005; 52(Suppl): 280–3.
59. Tackenberg B, Metz A, Unger M et al. Nigrostriatal dysfunction in X-linked dystonia-parkinsonism (DYT3). Mov Disord 2007; 22: 900–2.
60. Grotzsch H, Pizzolato GP, Ghika J et al. Neuropathology of a case of dopa-responsive dystonia associated with a new genetic locus, DYT14. Neurology 2002; 58: 1839–42.
61. Albanese A, Barnes MP, Bhatia KP et al. A systematic review on the diagnosis and treatment of primary (idiopathic) dystonia and dystonia plus syndromes: report of an EFNS/MDS-ES Task Force. Eur J Neurol 2006; 13: 433–44.
62. Jankovic J. Treatment of dystonia. Lancet Neurol 2006; 5: 864–72.
63. Munchau A, Palmer JD, Dressler D et al. Prospective study of selective peripheral denervation for botulinum-toxin resistant patients with cervical dystonia. Brain 2001; 124: 769–83.
64. Kupsch A, Benecke R, Muller J et al. Pallidal deep-brain stimulation in primary generalized or segmental dystonia. N Engl J Med 2006; 355: 1978–90.