Search for a founder mutation in idiopathic focal dystonia from northern Germany

American Journal of Human Genetics

Volumn 63, Issue 6, 1998, Pages 1777-1782

  Klein, Christine ^a   Ozelius, Laurie J ^a   Hagenah, Johann ^b   Breakefield, Xandra O ^a   Risch, Neil J ^c   Vieregge, Peter ^b  

^a MASSACHUSETTS GENERAL HOSPITAL   (United States)

^b UNIVERSITY OF LÜBECK   (Germany)

^c STANFORD UNIVERSITY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; AGED; ARTICLE; CHROMOSOME 18P; CHROMOSOME 9Q; CONTROLLED STUDY; DISEASE DURATION; DYSTONIA; ENVIRONMENTAL FACTOR; FAMILY; FEMALE; FOUNDER EFFECT; GENE DELETION; GENE FREQUENCY; GENE LINKAGE DISEQUILIBRIUM; GENE MUTATION; GERMANY; HEREDITY; HUMAN; IDIOPATHIC DISEASE; MAJOR CLINICAL STUDY; MALE; ONSET AGE; PRIORITY JOURNAL;

EID: 0032471930     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/302143     Document Type: Article

References (28)

1. Bengtsson BO, Thomson G (1981) Measuring the strength of associations between HLA antigens and diseases. Tissue Antigens 18:356-363
2. Bressman SB, de Leon D, Kramer PL, Ozelius LJ, Brin MF, Greene PE, Fahn S, et al. (1994a) Dystonia in Ashkenazi Jews: clinical characterization of a founder mutation. Ann Neurol 36:771-777
3. Bressman SB, Heiman GA, Nygaard TG, Ozelius LJ, Hunt AL, Brin MF, Gordon MF, et al. (1994b) A study of idiopathic torsion dystonia in a non-Jewish family: evidence for genetic heterogeneity. Neurology 44:283-287
4. Bressman SB, Warner TT, Almasy L, Uitti RJ, Greene PE, Heiman GA, Raymond D, et al. (1996) Exclusion of the DYT2 locus in familial torticollis. Ann Neurol 40:681-684
5. Devlin B, Risch N (1995) A comparison of linkage disequilibrium measures for fine-scale mapping. Genomics 29:311-322
6. Fahn S, Marsden CD, Calne DB (1986) Classification and investigation of dystonia. In: Marsden CD, Fahn S (eds) Movement disorders. Vol 2. Butterworths, London, pp 332-358
7. Feder JN, Gnirke A, Thomas W, Tsuchihashi Z, Ruddy DA, Basava A, Dormishian F, et al. (1996) A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis. Nat Genet 13:399-408
8. Friedman A, Fahn S (1986) Spontaneous remissions in spasmodic torticollis. Neurology 36:398-400
9. Gasser T (1997) Idiopathic, myoclonic and Dopa-responsive dystonia. Curr Opin Neurol 10:357-362
10. Gasser T, Müller-Myhsok B, Wszolek ZK, Dürr A, Vaughan JR, Bonifati V, Meco G, et al. (1997) Genetic complexity and Parkinson's disease. Science 277:388-389
11. Hastbacka J, de la Chapelle A, Kaitila I, Sistonen P, Weaver A, Lander E (1992) Linkage disequilibrium mapping in isolated founder populations: diastrophic dysplasia in Finland. Nat Genet 2:204-211
12. Holmgren G, Ozelius LJ, Forsgren L, Almay BG, Holmberg M, Kramer P, Fahn S, et al. (1995) Adult-onset idiopathic torsion dystonia is excluded from the DYT1 region (9q34) in a Swedish family. J Neurol Neurosurg Psychiatry 59:178-181
13. Kakinuma S, Sasabe F, Negoro K, Nogaki H, Morimatsu M (1994) 18p-Syndrome with bilateral pyramidal tract signs, dystonia of the lower extremities and concentric visual field defects. Rinsho Shinkeigaku 34:474-478
14. Leube B, Hendgen T, Kessler KR, Knapp M, Benecke R, Auburger G (1997a) Evidence for DYT7 being a common cause of cervical dystonia (torticollis) in central Europe. Am J Med Genet 74:529-532
15. _ (1997b) Sporadic focal dystonia in northwest Germany: molecular basis on chromosome 18p. Ann Neurol 42:111-114
16. Leube B, Kessler KR, Goecke T, Auburger G, Benecke R (1997c) Frequency of familial inheritance among 488 index patients with idiopathic focal dystonia and clinical variability in a large family. Mov Disord 12:1000-1006
17. Leube B, Rudnicki D, Ratzlaff T, Kessler KR, Benecke R, Auburger G (1996) Idiopathic torsion dystonia: assignment of a gene to chromosome 18p in a German family with adult onset, autosomal dominant inheritance and purely focal distribution. Hum Mol Genet 5:1673-1677
18. MacDonald ME, Lin C, Srinidhi L, Bates G, Altherr M, Whaley WL, Lehrach H, et al. (1991) Complex patterns of linkage disequilibrium in the Huntington disease region. Am J Hum Genet 49:723-734
19. Müller U, Steinberger D, Németh AH (1998) Clinical and molecular genetics of primary dystonias. Neurogenetics 1:165-177
20. Ozelius LJ, Hewett JW, Page CE, Bressman SB, Kramer PL, Shalish C, de Leon D, et al. (1997) The early-onset torsion dystonia gene (DYT1) encodes an ATP-binding protein. Nat Genet 17:40-48
21. Ozelius LJ, Kramer PL, de Leon D, Risch N, Bressman SB, Schuback DE, Brin MF, et al. (1992) Strong allelic association between the torsion dystonia gene (DYT1) and loci on chromosome 9q34 in Ashkenazi Jews. Am J Hum Genet 50:619-628
22. Page CE, Klein C, Ozelius LJ, Gordon MF, LeWitt PA, Brin MF (1998) Genetic analysis of three patients with dystonia and deletion in chromosome 18p. Neurology 50 Suppl 4:A427
23. Polymeropoulos MH, Lavedan C, Leroy E, Ide SE, Dehejia A, Dutra A, Pike B, et al. (1997) Mutation in the alpha-synuclein gene identified in families with Parkinson's disease. Science 276:2045-2047
24. Scott WK, Stajich JM, Yamaoka LH, Speer MC, Vance JM, Roses AD, Pericak-Vance MA, et al. (1997) Genetic complexity and Parkinson's disease. Science 277:387-388
25. Sheehy MP, Rothwell JC, Marsden CD (1988) Writer's cramp. Adv Neurol 50:457-472
26. Soland VL, Bhatia KP, Marsden CD (1996) Sex prevalence of focal dystonias. J Neurol Neurosurg Psychiatry 60:204-205
27. von Deimling A, Bender B, Louis DN, Wiestler OD (1993) A rapid and non-radioactive PCR based assay for the detection of allelic loss in human gliomas. Neuropathol Appl Neurobiol 19:524-529
28. Waddy HM, Fletcher NA, Harding AE, Marsden CD (1991) A genetic study of idiopathic focal dystonias. Ann Neurol 29:320-324