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A genetic study of idiopathic focal dystonias

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Abstract

The inheritance of focal dystonias was investigated in 43 families containing 43 index cases with torticollis (n = 21), blepharospasm (n = 18) and writer's cramp (n = 4). They generated a potential population of 235 first-degree relatives, and 168 out of 179 living first-degree relatives were examined. Ten relatives with dystonia were identified in ten families. Another two parents from two of the same group of ten families were affected according to the family history. The majority of the secondary cases (six patients, five siblings, and one child) were not aware of any dystonia. The tendency for affected relatives to have the same type of dystonia as index patients was observed only for torticollis. Overall, 23% of index patients had relatives with dystonia. Segregation analysis suggested the presence of an autosomal dominant gene or genes with reduced penetrante underlying focal dystonia.

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References

  1. 1.

    Bressman SB, Leon D de, Brin MF, Risch N, Burke RE, Greene PE, Shale H, Fahn S (1989) Idiopathic dystonia among Ashkenazi Jews: evidence for autosomal dominant inheritance. Neurology 26:612–620

  2. 2.

    Bressman SB, Heiman GA, Nygaard TG, Ozelius LJ, Hunt AL, Brin MF, Gordon MF, Moskowitz CB, Leon D de, Burke RE, Fahn S, Risch NJ, Breakefield XO, Kramer PL (1994) A study of idiopathic torsion dystonia in a non-Jewish family: evidence for genetic heterogeneity. Neurology 44:283–287

  3. 3.

    Chan J, Brin MP, Fahn S (1991) Idiopathic cervical dystonia: clinical characteristics. Mov Disord 6:119–126

  4. 4.

    Defazio G, Livrea P, Guanti G, Lepore V, Ferrari E (1993) Genetic contribution to idiopathic adult-onset blepharospasm and cranial-cervical dystonia. Eur Neurol 33:345–350

  5. 5.

    Dürr A, Stevanin G, Jedynak CP, Penet C, Agid Y, Brice A (1993) Familial essential tremor and idiopathic torsion dystonia are different genetic entities. Neurology 43:2212–2214

  6. 6.

    Emery AEH (1986) Methodology in medical genetics. An introduction to statistical methods. Churchill Livingstone, Edinburgh

  7. 7.

    Fahn S, Marsden CD, Calne DB (1987) Classification and investigation of dystonia. In: Marsden CD, Fahn S (eds) Movement disorders, vol 2. Butterworths, London, pp 332–358

  8. 8.

    Fletcher NA, Harding AE, Marsden CD (1990) A genetic study of idiopathic torsion dystonia in the United Kingdom. Brain 113:379–395

  9. 9.

    Grandas F, Elston J, Quinn N, Marsden CD (1988) Blepharospasm: a review of 264 patients. J Neurol Neurosurg Psychiatry 51:767–772

  10. 1O.

    Jankovic J, Ford J (1988) Blepharospasm and orofacial-cervical dystonia: clinical and pharmacological findings in 100 patients. Ann Neurol 13:402–411

  11. 11.

    Jankovic J, Nutt JG (1988) Blepharospasm and cranial-cervical dystonia (Meige's syndrome): familial occurrence. In: Jankovic J, Tolosa E (eds) Advances in neurology: facial dyskinesias, vol 49. Raven Press, New York, pp 117–123

  12. 12.

    Jankovic J, Leder S, Warner D, Schwartz K (1991) Cervical dystonia: clinical findings and associated movement disorders. Neurology 41:1088–1091

  13. 13.

    Jedynak CP, Bonnet AM, Agid Y (1991) Tremor and idiopathic dystonia. Mov Disord 6:230–236

  14. 14.

    Korczyn AD, Kahana E, Zilber N, Streifler M, Carasso R, Alter M (1980) Torsion dystonia in Israel. Ann Neurol 8:387–391

  15. 15.

    Kramer PL, Leon D de, Ozelius L, Risch N, Bressman SB, Brin MF, Schuback DE, Burke RE, Kwiatkowski DJ, Shale H, Gusella JF, Breakefield XO, Fahn S (1990) Dystonia gene in Ashkenazi Jewish population is located on chromosome 9q32-34. Ann Neurol 27:114–120

  16. 16.

    Lou JJ, Jankovic J (1991) Essential tremor: clinical correlates in 350 patients. Neurology 41:234–238

  17. 17.

    Marsden CD, Harrison MJG (1974) Idiopathic torsion dystonia (dystonia musculorum deformans): a review of forty-two patients. Brain 97:793–810

  18. 18.

    Nutt JG, Muenter MD, Aronson A, Kurland LT, Melton LJ (1988) Epidemiology of focal and generalized dystonia in Rochester, Minnesota. Mov Disord 3:188–194

  19. 19.

    Ozelius L, Kramer PL, Moskowitz CB, Kwiatkowski DJ, Brin MF, Bressman SB, Schuback DE, Falk CT, Risch N, Leon D de, Burke RE, Haines J, Gusella JF, Fahn S, Breakefield XO (1989) Human gene for torsion dystonia located on chromosome 9q32-34. Neuron 2:1427–1434

  20. 20.

    Pauls DL, Korczyn AD (1990) Complex segregation analysis of dystonia pedigrees suggests autosomal dominant inheritance. Neurology 40:1107–1110

  21. 21.

    Sheehy MP, Rothwell JC, Marsden CD (1988) Writer's cramp. In: Fahn S, Marsden CD, Calne DB (eds) Advances in neurology: dystonia 2, vol 50. Raven Press, New York, pp 457–472

  22. 22.

    Tolosa ES (1981) Clinical features of Meige's disease: idiopathic orofacial dystonia. Arch Neurol 38:147–152

  23. 23.

    Waddy HM, Fletcher NA, Harding AE, Marsden CD (1991) A genetic study of idiopathic focal dystonia. Ann Neurol 29:320–324

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Correspondence to Vladimir S. Kostic.

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Stojanović, M., Cvetković, D. & Kostic, V.S. A genetic study of idiopathic focal dystonias. J Neurol 242, 508–511 (1995). https://doi.org/10.1007/BF00867421

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Key words

  • Dystonia
  • Torticollis
  • Blepharospasm
  • Genetics