Literature DB >> 6694180

Inheritance of idiopathic torsion dystonia among Jews.

N Zilber, A D Korczyn, E Kahana, K Fried, M Alter.   

Abstract

Idiopathic torsion dystonia (ITD) has long been considered to be genetically determined, but the pattern of inheritance has been unclear. It has been suggested that inheritance may differ in Jews and non-Jews. In the present study, data gathered in a nationwide survey of ITD in Israel were analysed. Between 1969 and 1980, 47 patients were collected, of whom 40 were of European origin. In these European Jews, the ITD frequency was about 1:23 000 live births, which was five-fold greater than in Jews of Afro-Asian origin. Assuming that all cases fit the same genetic model, an X linked or a simple autosomal recessive model of inheritance did not agree well with our data. An autosomal dominant model with low penetrance could have accounted for our observations and would yield an ITD gene frequency in European Jews of 3 to 4:100 000. In view of the increased ages of their fathers, the isolated cases may have included some new mutations. Multifactorial inheritance was also possible. However, it may be inappropriate to assume that all cases have the same genetic basis, or even that all are inherited.

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Year:  1984        PMID: 6694180      PMCID: PMC1049200          DOI: 10.1136/jmg.21.1.13

Source DB:  PubMed          Journal:  J Med Genet        ISSN: 0022-2593            Impact factor:   6.318


  10 in total

1.  Studies on dystonia musculorum deformans.

Authors:  W JOHNSON; G SCHWARTZ; A BARBEAU
Journal:  Arch Neurol       Date:  1962-10

2.  Psychological studies in dystonia musculorum deformans.

Authors:  M Riklan; T Cullinan; I S Cooper
Journal:  Adv Neurol       Date:  1976

3.  Paternal age effect in isolated juvenile torison dystonia.

Authors:  S Bundey; M J Harrison; C D Marsden
Journal:  Adv Neurol       Date:  1976

4.  Definition of dystonia and classification of the dystonic states.

Authors:  S Fahn; R Eldridge
Journal:  Adv Neurol       Date:  1976

5.  The torsion dystonias: literature review and genetic and clinical studies.

Authors:  R Eldridge
Journal:  Neurology       Date:  1970-11       Impact factor: 9.910

6.  The primary hereditary dystonias: genetic classification of 768 families and revised estimate of gene frequency, autosomal recessive form, and selected bibliography.

Authors:  R Eldridge; R Gottlieb
Journal:  Adv Neurol       Date:  1976

7.  A genetic study of torsion dystonia.

Authors:  S Bundey; M J Harrison; C D Marsden
Journal:  J Med Genet       Date:  1975-03       Impact factor: 6.318

8.  Chronic GM1 gangliosidosis presenting as dystonia: I. Clinical and pathological features.

Authors:  J E Goldman; D Katz; I Rapin; D P Purpura; K Suzuki
Journal:  Ann Neurol       Date:  1981-05       Impact factor: 10.422

9.  Torsion dystonia in Israel.

Authors:  A D Korczyn; E Kahana; N Zilber; M Streifler; R Carasso; M Alter
Journal:  Ann Neurol       Date:  1980-10       Impact factor: 10.422

10.  The hereditary torsion dystonias (dystonia musculorum deformans): Geographical distribution and IQ in dominant and recessive forms.

Authors:  R Eldridge; A Harlan; I S Cooper; M Riklan
Journal:  Trans Am Neurol Assoc       Date:  1969
  10 in total
  13 in total

Review 1.  New approaches in the treatment of the dystonias.

Authors:  N Diederich; C G Goetz; C L Comella
Journal:  Klin Wochenschr       Date:  1990-10-03

Review 2.  The genetics of idiopathic torsion dystonia.

Authors:  N A Fletcher
Journal:  J Med Genet       Date:  1990-07       Impact factor: 6.318

Review 3.  The dystonias.

Authors:  C D Marsden; N P Quinn
Journal:  BMJ       Date:  1990-01-20

4.  Segregation analysis of idiopathic torsion dystonia in Ashkenazi Jews suggests autosomal dominant inheritance.

Authors:  N J Risch; S B Bressman; D deLeon; M F Brin; R E Burke; P E Greene; H Shale; E B Claus; L A Cupples; S Fahn
Journal:  Am J Hum Genet       Date:  1990-03       Impact factor: 11.025

Review 5.  The genetics of primary torsion dystonia.

Authors:  U Müller; K G Kupke
Journal:  Hum Genet       Date:  1990-01       Impact factor: 4.132

6.  Dopamine beta-hydroxylase gene excluded in four subtypes of hereditary dystonia.

Authors:  D Schuback; P Kramer; L Ozelius; G Holmgren; L Forsgren; M Kyllerman; J Wahlström; C M Craft; T Nygaard; M Brin
Journal:  Hum Genet       Date:  1991-07       Impact factor: 4.132

7.  Kinematic properties of upper limb trajectories in idiopathic torsion dystonia.

Authors:  R Inzelberg; T Flash; E Schechtman; A D Korczyn
Journal:  J Neurol Neurosurg Psychiatry       Date:  1995-03       Impact factor: 10.154

8.  The relationship between trauma and idiopathic torsion dystonia.

Authors:  N A Fletcher; A E Harding; C D Marsden
Journal:  J Neurol Neurosurg Psychiatry       Date:  1991-08       Impact factor: 10.154

9.  Identification of a highly polymorphic microsatellite VNTR within the argininosuccinate synthetase locus: exclusion of the dystonia gene on 9q32-34 as the cause of dopa-responsive dystonia in a large kindred.

Authors:  D J Kwiatkowski; T G Nygaard; D E Schuback; S Perman; J M Trugman; S B Bressman; R E Burke; M F Brin; L Ozelius; X O Breakefield
Journal:  Am J Hum Genet       Date:  1991-01       Impact factor: 11.025

10.  Strong allelic association between the torsion dystonia gene (DYT1) andloci on chromosome 9q34 in Ashkenazi Jews.

Authors:  L J Ozelius; P L Kramer; D de Leon; N Risch; S B Bressman; D E Schuback; M F Brin; D J Kwiatkowski; R E Burke; J F Gusella
Journal:  Am J Hum Genet       Date:  1992-03       Impact factor: 11.025

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