Clinical Neurology and Neurosurgery
Volume 111, Issue 10 , Pages 880-882 , December 2009

Characteristics of dystonia in the 18p deletion syndrome, including a new case

  • Anna G. Postma

      Affiliations

    • Department of Neurology, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands
    • Corresponding Author InformationCorresponding authors. Movement Disorder Unit, Department of Neurology, University Medical Center Groningen, Hanzeplein 1, P.O. Box 30 001, 9700 RB Groningen, The Netherlands. Tel.: +31 50 361 6161; fax: +31 50 361 1707.
    • ,
  • Corien C. Verschuuren-Bemelmans

      Affiliations

    • Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands
    • ,
  • Klaas Kok

      Affiliations

    • Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands
    • ,
  • Teus van Laar

      Affiliations

    • Department of Neurology, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands
    • Corresponding Author InformationCorresponding authors. Movement Disorder Unit, Department of Neurology, University Medical Center Groningen, Hanzeplein 1, P.O. Box 30 001, 9700 RB Groningen, The Netherlands. Tel.: +31 50 361 6161; fax: +31 50 361 1707.

Received 8 December 2008 ,Revised 3 June 2009 ,Accepted 22 July 2009.

References 

  1. Schinzel A. Catalogue of unbalanced chromosome aberrations in man. Berlin, New York: De Gruyter; 2001;
  2. Wester U, Bondeson ML, Edeby C, Anneren G. Clinical and molecular characterization of individuals with 18p deletion: a genotype–phenotype correlation. Am J Med Genet A. 2006;140:1164–1171
  3. Fahn S, Marsden CD, Calne DB. Classification and investigation of dystonia. In:  Marsden CD,  Fahn S editor. Movement disorders 2. London: Butterworths; 1987;p. 332–358
  4. Fahn S, Bressman SB, Marsden CD. Classification of dystonia. Adv Neurol. 1998;78:1–10
  5. Nemeth AH. The genetics of primary dystonias and related disorders. Brain. 2002;125:695–721
  6. de Carvalho Aguiar PM, Ozelius LJ. Classification and genetics of dystonia. Lancet Neurol. 2002;1:316–325
  7. Klein C, Ozelius LJ. Dystonia: clinical features, genetics, and treatment. Curr Opin Neurol. 2002;15:491–497
  8. 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;58:1839–1842
  9. Grimes DA, Han F, Lang AE, et al. A novel locus for inherited myoclonus-dystonia on 18p11. Neurology. 2002;59:1183–1186
  10. Kok K, Dijkhuizen T, Swart YE, et al. Application of a comprehensive subtelomere array in clinical diagnosis of mental retardation. Eur J Med Genet. 2005;48:250–262
  11. Leube B, Rudnicki D, Ratzlaff T, et al. Idiopathic torsion dystonia: assignment of a gene to chromosome 18p in a German family with adult onset, autosomal dominant inheritance and purely focal distribution. Hum Mol Genet. 1996;5:1673–1677
  12. Leube B, Hendgen T, Kessler KR, et al. Sporadic focal dystonia in northwest Germany: molecular basis on chromosome 18p. Ann Neurol. 1997;42:111–114
  13. Leube B, Hendgen T, Kessler KR, et al. Evidence for DYT7 being a common cause of cervical dystonia (torticollis) in Central Europe. Am J Med Genet. 1997;74:529–532
  14. Leube B, Auburger G. Questionable role of adult-onset focal dystonia among sporadic dystonia patients. Ann Neurol. 1998;44:984–985
  15. Klein C, Ozelius LJ, Hagenah J, et al. Search for a founder mutation in idiopathic focal dystonia from Northern Germany. Am J Hum Genet. 1998;63:1777–1782
  16. Mahloudji M, Pikielny RT. Hereditary essential myoclonus. Brain. 1967;90:669–674
  17. Gasser T. Inherited myoclonus-dystonia syndrome. Adv Neurol. 1998;78:325–334
  18. Han F, Racacho L, Lang AE, Bulman DE, Grimes DA. Refinement of the DYT15 locus in myoclonus dystonia. Mov Disord. 2007;22:888–892
  19. Awaad Y, Munoz S, Nigro M. Progressive dystonia in a child with chromosome 18p deletion, treated with intrathecal baclofen. J Child Neurol. 1999;14:75–77
  20. Kakinuma S, Sasabe F, Negoro K, Nogaki H, Morimatsu M. 18p-syndrome with bilateral pyramidal tract signs, dystonia of the lower extremities and concentric visual field defect. Rinsho Shinkeigaku. 1994;34:474–478
  21. Klein C, Page CE, LeWitt P, et al. Genetic analysis of three patients with an 18p-syndrome and dystonia. Neurology. 1999;52:649–651
  22. Nasir J, Frima N, Pickard B, et al. Unbalanced whole arm translocation resulting in loss of 18p in dystonia. Mov Disord. 2006;21:859–863
  23. Tezzon F, Zanoni T, Passarin MG, Ferrari G. Dystonia in a patient with deletion of 18p. Ital J Neurol Sci. 1998;19:90–93
  24. Kacinski M, Jaworek M, Skowronek-Bala B. Caudal regression syndrome associated with the white matter lesions and chromosome 18p11.2 deletion. Brain Dev. 2007;29:164–166
  25. Draganski B, Thun-Hohenstein C, Bogdahn U, Winkler J, May A. Motor circuit” gray matter changes in idiopathic cervical dystonia. Neurology. 2003;61:1228–1231
  26. Tonk V, Krishna J. Case report: de novo inherited 18p deletion in a mother-fetus pair with extremely variable expression, confirmed by fluorescence in situ hybridization (FISH) analysis. Eur J Obstet Gynecol Reprod Biol. 1997;73:193–196

PII: S0303-8467(09)00184-X

doi: 10.1016/j.clineuro.2009.07.013

Clinical Neurology and Neurosurgery
Volume 111, Issue 10 , Pages 880-882 , December 2009

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