DYT1 mutation in French families with idiopathic torsion dystonia

Brain

Volumn 122, Issue 1, 1999, Pages 41-45

  Lebre, A S ^a   Durr, A ^a   Jedynak, P ^a   Ponsot, G ^b   Vidailhet, M ^c   Agid, Y ^a   Brice, A ^a  

^a PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^b HÔPITAL SAINT VINCENT DE PAUL   (France)

^c HÔPITAL SAINT ANTOINE   (France)

Author keywords

Ashkenazi Jews; DYT1; Idiopathic torsion dystonia; Linkage disequilibrium; Torsin A

Indexed keywords

ADULT; ARM; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CLINICAL ARTICLE; FAMILY STUDY; FEMALE; FRANCE; GENE LINKAGE DISEQUILIBRIUM; GENE MUTATION; HAPLOTYPE; HUMAN; IDIOPATHIC DISEASE; JEW; MALE; ONSET AGE; PEDIGREE; PRIORITY JOURNAL; SCHOOL CHILD; TORSION DYSTONIA;

EID: 0032951850     PISSN: 00068950     EISSN: None     Source Type: Journal    
DOI: 10.1093/brain/122.1.41     Document Type: Article

References (11)

1. Almasy L, Bressman SB, Raymond D, Kramer PL, Greene PE, Heiman GA, et al. Idiopathic torsion dystonia linked to chromosome 8 in two Mennonite families. Ann Neurol 1997; 42: 670-3.
2. Bressman SB, de Leon D, Brin MF, Risch N, Burke RE, Greene PE, et al. Idiopathic dystonia among Ashkenazi Jews: evidence for autosomal dominant inheritance. Ann Neurol 1989; 26: 612-20.
3. Bressman SB, de Leon D, Kramer PL, Ozelius LJ, Brin MF, Greene PE, et al. Dystonia in Ashkenazi Jews: clinical characterization of a founder mutation [published erratum appears in Ann Neurol 1995; 37: 140]. Ann Neurol 1994; 36: 771-7.
4. Fahn S. Concept and classification of dystonia. [Review]. Adv Neurol 1988; 50: 1-8.
5. Kramer PL, Heiman GA, Gasser T, Ozelius LJ, de Leon D, Brin MF, et al. The DYT1 gene on 9q34 is responsible for most cases of early limb-onset idiopathic torsion dystonia in non-Jews. Am J Hum Genet 1994: 55: 468-75.
6. Kwiatkowski DJ, Henske EP, Weimer K, Ozelius L, Gusella JF, Haines J. Construction of a GT polymorphism map of human 9q. Genomics 1992; 12: 229-40.
7. Leube B, Hendgen T, Kessler KR, Knapp M, Benecke R, Auburger G. Sporadic focal dystonia in northwest Germany: molecular basis on chromosome 18p. Ann Neurol 1997; 42: 111-4.
8. Ozelius L, Kramer PL, Moskowitz CB, Kwiatkowski DJ, Brin MF, Bressman SB, et al. Human gene for torsion dystonia located on chromosome 9q32-q34. Neuron 1989; 2: 1427-34.
9. Ozelius LJ, Kramer PL, de Leon D, Risch N, Bressman SB, Schuback DE, et al. Strong allelic association between the torsion dystonia gene (DYT1) and loci on chromosome 9q34 in Ashkenazi Jews. Am J Hum Genet 1992; 50: 619-28.
10. Ozelius LJ, Hewett JW, Page CE, Bressman SB, Kramer PL, Shalish C, et al. The early-onset torsion dystonia gene (DYT1) encodes an ATP-binding protein. Nat Genet 1997a; 17: 40-8.
11. Ozelius LJ, Hewett J, Kramer P, Bressman SB, Shalish C, de Leon D, et al. Fine localization of the torsion dystonia gene (DYT1) on human chromosome 9q34: YAC map and linkage disequilibrium. Genome Res 1997b; 7: 483-94.