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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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
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
Chan J, Brin MP, Fahn S (1991) Idiopathic cervical dystonia: clinical characteristics. Mov Disord 6:119–126
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
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
Emery AEH (1986) Methodology in medical genetics. An introduction to statistical methods. Churchill Livingstone, Edinburgh
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
Fletcher NA, Harding AE, Marsden CD (1990) A genetic study of idiopathic torsion dystonia in the United Kingdom. Brain 113:379–395
Grandas F, Elston J, Quinn N, Marsden CD (1988) Blepharospasm: a review of 264 patients. J Neurol Neurosurg Psychiatry 51:767–772
Jankovic J, Ford J (1988) Blepharospasm and orofacial-cervical dystonia: clinical and pharmacological findings in 100 patients. Ann Neurol 13:402–411
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
Jankovic J, Leder S, Warner D, Schwartz K (1991) Cervical dystonia: clinical findings and associated movement disorders. Neurology 41:1088–1091
Jedynak CP, Bonnet AM, Agid Y (1991) Tremor and idiopathic dystonia. Mov Disord 6:230–236
Korczyn AD, Kahana E, Zilber N, Streifler M, Carasso R, Alter M (1980) Torsion dystonia in Israel. Ann Neurol 8:387–391
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
Lou JJ, Jankovic J (1991) Essential tremor: clinical correlates in 350 patients. Neurology 41:234–238
Marsden CD, Harrison MJG (1974) Idiopathic torsion dystonia (dystonia musculorum deformans): a review of forty-two patients. Brain 97:793–810
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
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
Pauls DL, Korczyn AD (1990) Complex segregation analysis of dystonia pedigrees suggests autosomal dominant inheritance. Neurology 40:1107–1110
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
Tolosa ES (1981) Clinical features of Meige's disease: idiopathic orofacial dystonia. Arch Neurol 38:147–152
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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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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DOI: https://doi.org/10.1007/BF00867421