The early-onset torsion dystonia gene (DYT1) encodes an ATP-binding protein

Nature Genetics

Volumn 17, Issue 1, 1997, Pages 40-48

  Ozelius, Laurie J ^a   Hewett, Jeffrey W ^a   Page, Curtis E ^a   Bressman, Susan B ^b   Kramer, Patricia L ^c   Shalish, Christo ^a   De Leon, Deborah ^b   Brin, Mitchell F ^d   Raymond, Deborah ^b   Corey, David P ^a   Fahn, Stanley ^b   Risch, Neil J ^e   Buckler, Alan J ^a   Gusella, James F ^a   Breakefield, Xandra O ^a  

^a MASSACHUSETTS GENERAL HOSPITAL   (United States)

^b New York State Psychiat Inst and New York Presbyterian Hospital Columbia University Medical Center   (United States)

^c OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

^d MOUNT SINAI HOSPITAL   (United States)

^e STANFORD UNIVERSITY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

BINDING PROTEIN; HEAT SHOCK PROTEIN; PROTEINASE;

ARTICLE; CHROMOSOME 9Q; GENE DELETION; GENE ISOLATION; GENE LOCATION; HUMAN; MOUSE; NEMATODE; ONSET AGE; PRIORITY JOURNAL; RAT; SEQUENCE HOMOLOGY; TORSION DYSTONIA;

AGE OF ONSET; AMINO ACID SEQUENCE; ANIMALS; ATP-BINDING CASSETTE TRANSPORTERS; BASE SEQUENCE; CARRIER PROTEINS; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 9; DNA MUTATIONAL ANALYSIS; DYSTONIA MUSCULORUM DEFORMANS; GENETIC MARKERS; HETEROZYGOTE DETECTION; HUMANS; JEWS; LINKAGE (GENETICS); LYMPHOCYTES; MICE; MOLECULAR CHAPERONES; MOLECULAR SEQUENCE DATA; POINT MUTATION; POLYMERASE CHAIN REACTION; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; RATS; RECOMBINANT PROTEINS; SEQUENCE ALIGNMENT; SEQUENCE DELETION; SEQUENCE HOMOLOGY, AMINO ACID; TRANSCRIPTION, GENETIC;

EID: 16944366666     PISSN: 10614036     EISSN: None     Source Type: Journal    
DOI: 10.1038/ng0997-40     Document Type: Article

References (16)

1. Fahn, S. Concept and classification of dystonia. Adv. Neurol. 50, 1-8 (1988).
2. Chutorian, A.H. Childhood dystonia. Acta Neuropediatr. 2, 33-45 (1996).
3. Nutt J.G., Muenter, M.D., Aronson, A., Kurland, L.T. & Melton, L.J. Epidemiology of focal and generalized dystonia in Rochester, Minnesota. Mov. Disord. 3, 188-194 (1988).
4. Bressman, S.B. et al. Dystonia in Ashkenazi Jews: clinical characterization of a founder mutation. Ann. Neurol. 36, 771-777 (1994).
5. Greene, P., Kang, U.J. & Fahn, S. Spread of symptoms in idiopathic torsion dystonia. Mov. Disord. 10, 143-152 (1995).
6. Zeman, W. & Dyken, P. Dystonia musculorum deformans: clinical, genetic and pathoanatomical studies. Psychiatr. Neurol. Neurochir. 10, 77-121 (1967).
7. Korczyn, A.D. et al. Torsion dystonia in Israel. Ann. Neurol. 8, 387-391 (1980).
8. Eldridge, R. The torsion dystonia: literature review; genetic and clinical studies. Neurology 20, 1-78 (1970).
9. Ozelius, L.J. et al. Strong allelic association between the torsion dystonia gene (DYT1) and loci on chromosome 9q34 in Ashkenazi Jews. Am. J. Hum. Genet. 50, 619-628 (1992).
10. Risch, N.J. et al. Segregation analysis of idiopathic torsion dystonia in Ashkenazi Jews suggests autosomal dominant inheritance. Am. J. Hum. Genet. 46, 533-538 (1990).
11. Risch, N. et al. Genetic analysis of idiopathic torsion dystonia in Ashkenazi Jews and their recent descent from a small founder population. Nature Genet. 9, 152-159 (1995).
12. Bressman, S.B. et al. Idiopathic dystonia among Ashkenazi Jews: evidence for autosomal dominant inheritance. Ann. Neurol. 26, 612-620 (1989).
13. Ozelius, L. et al. Human gene for torsion dystonia located on chromosome 9q32-q34. Neuron 2, 1427-1434 (1989).
14. Kramer, P.L. et al. Dystonia gene in Ashkenazi Jewish population is located on chromosome 9q32-q34. Ann. Neurol. 27, 114-120 (1990).
15. Kramer, P.L. et al. The DYT1 gene on 9q34 is responsible for most cases of early limb-onset idiopathic torsion dystonia (ITD) in non-Jews. Am. J. Hum. Gen. 55, 468-475 (1994).
16. Ozelius, L.J. et al. Fine localization of the torsion dystonia gene (DYT1) on human chromosome 9q34: YAC map and linkage disequilibrium. Genome Res. 7, 483-494 (1997).