Haplotype analysis at the DYT1 locus in Ashkenazi Jewish patients with occupational hand dystonia

Movement Disorders

Volumn 11, Issue 2, 1996, Pages 163-166

  Gasser, T ^a,b,c   Bove, C M ^a,b   Ozelius, L J ^a,b   Hallett, M ^d   Charness, M E ^a   Hochberg, F H ^a   Breakefield, X O ^a,b  

^a MASSACHUSETTS GENERAL HOSPITAL   (United States)

^b HARVARD MEDICAL SCHOOL   (United States)

^c LUDWIG MAXIMILIANS UNIVERSITY   (Germany)

^d NATIONAL INSTITUTES OF HEALTH   (United States)

Author keywords

DYT1 locus; Genetics of dystonia; Hand dystonia; Musician's cramp; Writer's cramp

Indexed keywords

ADULT; AGED; ARTICLE; CHROMOSOME 9Q; CLINICAL ARTICLE; DYSTONIA; ETHNIC GROUP; FEMALE; GENE LOCUS; GENE MUTATION; HAND; HAPLOTYPE; HUMAN; JEW; MALE; MUSICIAN; OCCUPATIONAL DISEASE; PRIORITY JOURNAL; WRITING;

ADULT; AGED; CHROMOSOME ABERRATIONS; CHROMOSOME DISORDERS; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 9; DNA MUTATIONAL ANALYSIS; DYSTONIA MUSCULORUM DEFORMANS; FEMALE; GENES, DOMINANT; GENETIC MARKERS; HANDWRITING; HAPLOTYPES; HUMANS; JEWS; MALE; MIDDLE AGED; MUSCLE CRAMP; MUSIC; OCCUPATIONAL DISEASES; PHENOTYPE; POLYMORPHISM, GENETIC;

EID: 0029879835     PISSN: 08853185     EISSN: None     Source Type: Journal    
DOI: 10.1002/mds.870110208     Document Type: Article

References (24)

1. Fahn S, Marsden CD, Calne DB. Classification and investigation of dystonia. In: Marsden CD, Fahn S, eds. Movement disorders 2. London: Butterworths, 1987:332-358.
2. Risch NJ, Bressman SB, deLeon D, et al. Segregation analysis of idiopathic torsion dystonia in Ashkenazi Jews suggests autosomal dominant inheritance. Am J Hum Genet 1990;46:533-538.
3. Kramer PL, deLeon D, Ozelius L, et al. Dystonia gene in Ashkenazi Jewish population is located on chromosome 9q32-14 Ann Neurol 1990;27:114-120.
4. Ozelius L, Kramer PL, Moskowitz CD, et al. Human gene for torsion dystonia located on chromosome 9q32-34. Neuron 1989;2:1427-1434.
5. Kramer P, Heiman G, Gasser T, et al. The DYT1 gene on 9q34 is responsible for most cases of early-onset idiopathic torsion dystonia (ITD) in non-Jews. Am J Hum Genet 1994; 55:468-475.
6. Ahmad F, Davis MB, Waddy HM, Oley CA, Marsden CD, Hardin AE. Evidence for locus heterogeneity in autosomal dominant torsion dystonia. Genomics 1993;15:9-12.
7. Bressman SB, Heiman MS, Nygaard TG, et al. A study of idiopathic torsion dystonia in a non-Jewish family: evidence for genetic heterogeneity. Neurology 1994;44:283-287.
8. Ozelius LJ, Kramer PL, deLeon D, et al. Strong allelic association between the torsion dystonia gene (DYT1) and loci on chromosome 9q34 in Ashkenazi Jews. Am J Hum Genet 1992;50:619-628.
9. Bressman SB, deLeon MS, Kramer PL, et al. Dystonia in Ashkenazi Jews: clinical characterization of a founder mutation. Ann Neurol 1994;36:771-777.
10. Risch N, deLeon D, Ozelius LJ, et al. Genetic analysis of idiopathic torsion dystonia of Ashkenazim for a small founder population. Nature Genet 1995;9:152-159.
11. Breakefield XO, Bressman SB, Kramer PL, et al. Linkage analysis in a family with dominantly inherited torsion dystonia: exclusion of the pro-opiomelanocortin and glutamic acid decarboxylase genes and other chromosomal regions using DNA polymorphisms. J Neurogenet 1986;3:159-175.
12. Weber JL, May PE. Abundant class of human DNA polymorphisms which can be typed using the polymerase chain reaction. Am J Hum Genet 1989;44:388-396.
13. Henske E, Ozelius L, Gusella J, Haines J, Kwiatkowski D. A high-resolution linkage map of human 9q34.1. Genomics 1993;17:587-591.
14. Kwiatkowski DJ, Henske EP, Weiber K, Ozelius L, Gusella JF, Haines J. Construction of a GT polymorphism map of human 9q. Genomics 1992;12:229-240.
15. Gasser T, Fahn S, Breakefield XO. The autosomal dominant dystonias. Brain Pathol 1992;2:197-308.
16. Waddy HM, Fletcher NA, Harding AE, Marsden CD. A genetic study of idiopathic focal dystonias. Ann Neurol 1991;29:320-324.
17. Sheehy MP, Rothwell JC, Marsden CD. Writer's cramp. Adv Neurol 1988;50:457-472.
18. Grandas F, Elston J, Quinn N, Marsden CD. Blephsrospasm: a review of 264 patients. J Neurol Neurosurg Psychiatry 1988;51:767-772.
19. Friedman A, Fahn S. Spontaneous remissions in spasmodic torticollis. Neurology 1986;36:398-400.
20. Forsgren L, Homgren G, Almay BLG, Drugge U. Autosomal dominant torsion dystonia in a Swedish family. Adv Neurol 1988;50:83-92.
21. Uitti RJ, Maraganore DM. Adult onset familial cervical dystonia: report of a family including monozygotic twins. Mov Disord 1993;8:489-494.
22. Bressman SB, deLeon D, Brin MF, et al. Idiopathic dystonia among Ashkenazi Jews: evidence for autosomal dominant inheritance. Ann Neurol 1989;26:612-620.
23. Johnson W, Schwartz G, Barbeau A. Studies on dystonia musculorum deformans. Arch Neurol 1962;7:301-313.
24. Ross MH, Charness ME, Lee D, Logigian EL. Does ulnar neuropathy predispose to focal dystonia? Muscle Nerve 1995;18:606-611.