Linkage analysis in British and French families with idiopathic torsion dystonia

Brain

Volumn 116, Issue 3, 1993, Pages 739-744

  Warner, T T ^a   Fletcher, N A ^a   Davis, M B ^a   Ahmad, F ^a   Conway, D ^a   Feve, A ^b   Rondot, P ^b   Marsden, C D ^a   Harding, A E ^a  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

^b CENTRE HOSPITALIER SAINTE ANNE   (France)

Author keywords

[No Author keywords available]

Indexed keywords

ARGININOSUCCINATE SYNTHASE;

ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CHROMOSOME 9Q; FAMILY; FRANCE; GENE LOCUS; GENE MAPPING; GENETIC HETEROGENEITY; GENETIC LINKAGE; GENETIC RECOMBINATION; HUMAN; IDIOPATHIC DISEASE; JEW; MAJOR CLINICAL STUDY; ONCOGENE; PENETRANCE; PRIORITY JOURNAL; TORSION DYSTONIA; UNITED KINGDOM; UNITED STATES;

ARGININOSUCCINATE SYNTHASE; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 9; DYSTONIA; ETHNIC GROUPS; FEMALE; FRANCE; GREAT BRITAIN; HUMANS; JEWS; LINKAGE (GENETICS); MALE; ONCOGENE PROTEINS V-ABL; TORSION;

EID: 0027265262     PISSN: 00068950     EISSN: None     Source Type: Journal    
DOI: 10.1093/brain/116.3.739     Document Type: Article

References (13)

1. Bressman SB, de Leon O, Brin MF, Risch N, Burke RE, Greene PE et al. (1989) Idiopathic dystonia among Ashkenazi Jews: evidence for autosomal dominant inheritance. Annals of Neurology, 26, 612-620
2. Fahn S, Marsden CD, Cause DB (1987) Classification and investigation of dystonia. In: Movement Disorders 2. Edited by C. D. Marsden and S. Fahn. London: Butterworths, pp. 332-358
3. Fletcher NA, Harding AE, Marsden CD (1990) A genetic study of idiopathic torsion dystonia in the United Kingdom. Brain, 113, 379-395
4. Kramer PL, de Leon D, Ozeuus L, Risch N, Bressman SB, Brin MF et al. (1990) Dystonia gene in Ashkenazi Jewish population is located on chromosome 9q32-34. Annals of Neurology, 27, 114-120
5. Kwiatkowski D (1991) Dinucleotide repeat polymorphism at the ABL locus (9q34). Nucleic Acids Research, 19, 967
6. Kwiatkowski DJ, Ozeuus L, Kramer PL, Perman S, Schuback DE, Gusella JF et al. (1991a) Torsion dystonia genes in two populations confined to a small region on chromosome 9q32-34. American Journal of Human Genetics, 49, 366-371
7. Kwiatkowski DJ, Nygaard TG, Schuback DE, Perman S, Trugman JM, Bressman S et al. (1991) 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. American Journal of Human Genetics, 48, 121-128
8. Lathrop GM, Lalouel JM, Juuer C, Ott J (1984) Strategies for multilocus linkage analysis in humans. Proceedings of the National Academy of Sciences of the USA, 81, 3443-3446
9. Ozeuus L, Kramer PL, Moskowitz CB, Kwiatkowski DJ, Brin MF, Bressman SB et al. (1989) Human gene for torsion dystonia located on chromosome 9q32-q34. Neuron, 2, 1427-1434
10. Ozeuus LJ, Kramer PL, de Leon D, Risch N, Bressman SB, Schuback DE et al. (1992) Strong allelic association between the torsion dystonia gene (DYT1) and loci on chromosome 9q34 in Ashkenazi Jews. American Journal of Human Genetics, 50, 619-628
11. Pauls DL, Korczyn AD (1990) Complex segregation analysis of dystonia pedigrees suggests autosomal dominant inheritance. Neurology, Cleveland, 40, 1107-1110
12. Risch NJ, Bressman SB, de Leon D, Brin MF, Burke RE, Greene PE et al. (1990) Segregation analysis of idiopathic torsion dystonia in Ashkenazi Jews suggests autosomal dominant inheritance. American Journal of Human Genetics, 46, 533-538
13. Zilber N, Korczyn AD, Kahana E, Fried K, Alter M (1984) Inheritance of idiopathic torsion dystonia among Jews. Journal of Medical Genetics, 21, 13-20