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Journal of Neurology

, Volume 251, Issue 7, pp 845–848 | Cite as

Familial adolescent-onset scoliosis and later segmental dystonia in an Irish family

  • Sean O’Riordan
  • Timothy Lynch
  • Michael Hutchinson
ORIGINAL COMMUNICATION

Abstract.

Adolescent-onset scoliosis occurs more frequently than expected in primary adult-onset cervical dystonia and a genetic association between the conditions has been postulated. The authors report a family in which four members have adult-onset cervical and/or brachial dystonia, two of whom have coexistent scoliosis. Four other individuals have isolated childhood- or adolescent-onset scoliosis. Adolescent-onset scoliosis may represent part of the dystonia phenotype in this family.

Key words

primary torsion dystonia scoliosis 

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References

  1. 1.
    Bressman SB, Sabatti C, Raymond D, de Leon D, Klein C, Kramer PL, Brin MF, Fahn S, Breakefield X, Ozelius LJ, Risch NJ (2000) The DYT1 phenotype and guidelines for diagnostic testing. Neurology 54:1746–1752PubMedGoogle Scholar
  2. 2.
    Chan V, Fong GC, Luk KD, Yip B, Lee MK, Wong MS, Lu DD, Chan TK (2002) A genetic locus for adolescent idiopathic scoliosis linked to chromosome 19p13.3. Am J Hum Genet 71:401–406CrossRefPubMedGoogle Scholar
  3. 3.
    Cote P, Kreitz BG, Cassidy JD, Dzus AK, Martel J (1998) A study of the diagnostic accuracy and reliability of the Scoliometer and Adam’s forward bend test. Spine 23:796–802CrossRefPubMedGoogle Scholar
  4. 4.
    Defazio G, Abbruzzese G, Girlanda P, Buccafusca M, Curra A, Marchese R, Martino D, Masi G, Mazzella L, Vacca L, Livrea P, Berardelli A (2003) Primary cervical dystonia and scoliosis. Neurology 60:1012–1015PubMedGoogle Scholar
  5. 5.
    Domenech J, Tormos JM, Barrios C, et al. (1997) Abnormal cortico-cortical inhibition in idiopathic scoliosis. Is idiopathic scoliosis a dystonia? Neurology 48(suppl 2):A344 (Abstract)Google Scholar
  6. 6.
    Duane D (1998) Familial cervical dystonia, head tremor and scoliosis: A case report. Adv Neurol 78:117–120PubMedGoogle Scholar
  7. 7.
    Duane D (1998) Frequency of scoliosis in cervical dystonia patients and their relatives. Mov Disord 13(suppl 2):99.24 (Abstract)Google Scholar
  8. 8.
    Furukawa Y, Kish SJ, Lang AE (2000) Scoliosis in a dopa-responsive dystonia family with a mutation of the GTP cyclohydrolase 1 gene. Neurology 54:2187PubMedGoogle Scholar
  9. 9.
    Greene P, Kang UJ, Fahn S (1995) Spread of symptoms in Idiopathic Torsion Dystonia. Mov Disord 10:143–152PubMedGoogle Scholar
  10. 10.
    Jankovic J, Leder S, Warner D, Schwartz K (1991) Cervical dystonia: clinical findings and associated movement disorders. Neurology 41:1088–1091PubMedGoogle Scholar
  11. 11.
    Justice CM, Miller NH, Marosy B, Zhang J, Wilson AF (2003) Familial idiopathic scoliosis: evidence of an X-linked susceptibility locus. Spine 28:589–594CrossRefPubMedGoogle Scholar
  12. 12.
    Karachalios T, Sofianos J, Roidis N, Sapkas G, Korres D, Nikolopoulos K (1999) Ten year follow up evaluation of a school screening program for scoliosis. Is the forward bending test an accurate diagnostic criterion for the screening of scoliosis? Spine 24:2318–2324CrossRefPubMedGoogle Scholar
  13. 13.
    Lowe TG, Edgar M, Margulies JY, Miller NH, Raso VJ, Reinker KA, Rivard C-H (2000) Aetiology of idiopathic scoliosis: current trends in research. J Bone Joint Surg (Am) 82:1157–1168Google Scholar
  14. 14.
    Micheli F, Pardal MF, Gatto E, Paradiso G (1991) Dopa-responsive dystonia masquerading as idiopathic kyphoscoliosis. Clin Neuropharmacol 14:367–371PubMedGoogle Scholar
  15. 15.
    Nygaard TG, Trugman JM, Garcia de Yebenes J, Fahn S (1990) Dopa-responsive dystonia: the spectrum of clinical manifestations in a large North American family. Neurology 40:66–69PubMedGoogle Scholar
  16. 16.
    Reamy BV, Slakey JB (2001) Adolescent idiopathic scoliosis: review and current concepts. Am Fam Phys 64:32–35Google Scholar
  17. 17.
    Salehi LB, Mangino M, De Serio S, De Cicco D, Capon F, Semprini S, Pizzuti A, Novelli G, Dallapiccola B (2002) Assignment of a locus for autosomal dominant idiopathic scoliosis to human chromosome 17p11. Hum Genet 111:401–404CrossRefPubMedGoogle Scholar
  18. 18.
    Wise CA, Barnes R, Gillum J, Herring JA, Bowcock AM, Lovett M (2000) Localisation of susceptibility to familial idiopathic scoliosis. Spine 25:2372–2380CrossRefPubMedGoogle Scholar

Copyright information

© Steinkopff Verlag 2004

Authors and Affiliations

  • Sean O’Riordan
    • 1
  • Timothy Lynch
    • 2
  • Michael Hutchinson
    • 1
  1. 1.Dept. of NeurologySt Vincent’s University HospitalDublin 4Ireland
  2. 2.Mater Misericordiae HospitalDublinIreland

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