Idiopathic, myoclonic and Dopa-responsive dystonia

Current Opinion in Neurology

Volumn 10, Issue 4, 1997, Pages 357-362

  Gasser, Thomas ^a  

^a LUDWIG MAXIMILIANS UNIVERSITY   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

DOPA;

DYSTONIA; HUMAN; IDIOPATHIC DISEASE; MYOCLONUS; PATHOGENESIS; SHORT SURVEY;

EID: 0030873423     PISSN: 13507540     EISSN: None     Source Type: Journal    
DOI: 10.1097/00019052-199708000-00013     Document Type: Short Survey

References (57)

1. Fahn S, Marsden CD, Calne DB: Classification and investigation of dystonia. In Movement Disorders, volume 2. Edited by Marsden CD, Fahn S. London: Butterworths; 1987:332-358.
2. Fahn S: Clinical variants of idiopathic torsion dystonia. J Neurol Neurosurg Psychiatry 1989, 52 (suppl):96-100.
3. Ozelius L, Kramer PL, Moskowitz CB, Kwiatkowski DJ, Brin MF, Bressman SB, Schuback DE, Falk CT, Risch N, de Leon D et al.: Human gene for torsion dystonia located on chromosome 9q32-q34. Neuron 1989, 2:1427-1434.
4. Ozelius LJ, Kramer PL, de Leon D, Risch N, Bressman SB, Schuback DE, Brin MF, Kwiatkowski DJ, Burke RE, Gusella JF et al.: Strong allelic association between the torsion dystonia gene (DYT1) and loci on chromosome 9q34 in Ashkenazi Jews Torsion dystonia genes in two populations confined to a small region on chromosome 9q32-34. Am J Hum Genet 1991, 49:366-371.
5. Graeber MB, Kupke KG, Muller U: Delineation of the dystonia-parkinsonism syndrome locus in Xq13. Proc Natl Acad Sci U S A 1992, 89:8245-8248.
6. Bressman SB, Hunt AL, Heiman GA, Brin MF, Burke RE, Fahn S, Trugman JM, de Leon D, Kramer PL, Wilhelmsen KC et al.: Exclusion of the DYT1 locus in a non-Jewish family with early-onset dystonia. Movement Disord 1394, 9:626-632.
7. Leube B, Rudnicki D, Ratzlaff T, Kessler KR, Benecke R, Auburger G: 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 1996, 5:1673-1677. This paper reports the first demonstration of linkage for a dominantly inherited dystonia with purely focal distribution and adult onset.
8. Ichinose H, Ohye T, Takahashi E, Seki N, Hori T, Segawa M, Nomura Y, Endo K, Tanaka H, Tsuji S et al.: Hereditary progressive dystonia with marked diurnal fluctuation caused by mutations in the GTP cyclohydrolase I gene. Nat Genet 1994, 8:236-242.
9. Knappskog PM, Flatmark T, Mallet J, Ludecke B, Bartholome K: Recessively inherited L-DOPA-responsive dystonia caused by a point mutation (Q381K) in the tyrosine hydroxylase gene. Hum Mol Genet 1995, 4:1209-1212.
10. Soland VL, Bhatia KP, Marsden CD: Sex prevalence of focal dystonias. J Neurol Neurosurg Psychiatry 1996, 60:204-205.
11. Greene P, Kang UJ, Fahn S: Spread of symptoms in idiopathic torsion dystonia. Movement Disord 1995, 10:143-152.
12. Fahn S: Medical treatment of dystonia. In Handbook of Dystonia. Edited by Tsui JKC, Calne DB. New York: Marcel Dekker; 1995:317-328.
13. Cheng JT, Liu A, Wasmuth J, Liu BP, Truong D: Clinical evidence of genetic anticipation in adult-onset idiopathic dystonia. Neurology 1996, 47:215-219.
14. Kramer PL, de Leon D, Ozelius L, Risen N, Bressman SB, Brin MF, Schuback DE, Breakefield XO: Dystonia Gene in Ashkenazi Jewish population is located on chromsome 9q32-34. Ann Neurol 1991, 27:114-120.
15. Zilber N, Korczyn AD, Kahana E, Fried K, Alter M: Inheritance of idiopathic torsion dystonia among Jews. J Med Genet 1984, 21:13-20.
16. Risch N, de Leon D, Ozelius L, Kramer P, Almasy L, Singer B, Fahn S, Breakefield X, Bressman S: Genetic analysis of idiopathic torsion dystonia in Ashkenazi Jews and their recent descent from a small founder population. Nature Genet 1995, 9:152-159.
17. Kramer PL, Heiman GA, Gasser T, Ozelius LJ, de Leon D, Brin MF, Burke RE, Hewett J, Hunt AL, Moskowitz C 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, 55:468-475.
18. Bressman SB, de Leon D, Kramer PL, Ozelius LJ, Brin MF, Greene PE, Fahn S, Breakefield XO, Risch NJ: Dystonia in Ashkenazi Jews: clinical characterization of a founder mutation. Ann Neurol 1994, 36:771-777.
19. Gasser T, Bove CM, Ozelius LJ, Hallett M, Charness ME, Hochberg FH, Breakefield XO: Haplotype analysis at the DYT1 locus in Ashkenazi Jewish patients with occupational hand dystonia. Movement Disord 1996, 11:163-166.
20. 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 (in press).
21. Bressman SB, Heiman GA, Nygaard TG, Ozelius LJ, Hunt AL, Brin MF, Gordon MF, Moskowitz CB, de Leon D, Burke RE et al.: A study of idiopathic torsion dystonia in a non-Jewish family: evidence for genetic heterogeneity. Neurology 1994, 44:283-287.
22. Warner TT, Fletcher NA, Davis MB, Ahmad F, Conway D, Feve A, Rondot P, Marsden CD, Harding AE: Linkage analysis in British and French families with idiopathic torsion dystonia. Brain 1993, 116:739-744.
23. Ahmad F, Davis MB, Waddy HM, Oley CA, Marsden CD, Harding AE: Evidence for locus heterogeneity in autosomal dominant torsion dystonia. Genomics 1993, 15:9-12.
24. Holmgren G, Ozelius L, Forsgren L, Almay BG, Holmberg M, Kramer P, Fahn S, Breakefield XO: Adult onset idiopathic torsion dystonia Is excluded from the DYT 1 region (9q34) in a Swedish family. J Neurol Neurosurg Psychiatry 1995, 59:178-181.
25. Bressman SB, Warner TT, Almasy L, Uitti RJ, Green PE, Heiman GA, Ford B, deLeon D, Fahn S, Kramer PL et al.: Exclusion of the DYT1 locus in familial torticollis. Ann Neurol 1996, 40:681-684.
26. Uitti RJ, Maraganore DM: Adult onset familial cervical dystonia: report of a family including monozygotic twins. Movement Disord 1993, 8:489-494.
27. Waddy HM, Fletcher NA, Harding AE, Marsden CD: A genetic study of idiopathic focal dystonias. Ann Neurol 1991, 29:320-324.
28. Straube A, Mai N, Walther E, Mayer M: Persisting "writer's cramp" as a result of compensation of a temorary palsy due to a hereditary neuropathy with liability to pressure palsies. Movement Disord 1996, 11:576-579.
29. Charness ME, Ross MH, Shefner JM: Ulnar neuropathy and dystonic flexion of the fourth and fifth digits: clinical correlation in musicians. Movement Disord 1996, 11:576-579.
30. Byl N, Merzenich MM, Jenkins EM: A primate genesis model of focal dystonia and repetitive strain injury: I. Learning induced dedifferentiation of the representation of the hand in the primary somatosensory cortex in adult monkeys. Ann Neurol 1996, 47:508-520. This study elegantly demonstrates that repetitive strain injury may result in a degradation of the hand representation in the primary somatosensory cortical field, which may contribute to the genesis of occupationally induced focal dystonias.
31. Fahn S: The varied clinical expressions of dystonia. Neurol Clinics 1984, 2:541-553.
32. Quinn NP, Rothwell JC, Thompson PD, Marsden CD: Hereditary myoclonic dystonia, hereditary torsion dystonia and hereditary essential myoclonus: an area of confusion. Adv Neurol 1988, 50:391-401.
33. Quinn NP: Essential myoclonus and myoclonic dystonia. Movement Disord 1996, 11:119-124. This paper provides a lucid review of a subject that has caused a lot of confusion in the literature.
34. Lang AE: Essential myoclonus and myoclonic dystonia [letter]. Movement Disord 1997, 12:127.
35. Gasser T, Bereznai B, Müller B, Pruszak-Seel R, Damrich R, Deuschl G, Oertel WH: Linkage studies in alcohol-responsive myoclonic dystonia. Movement Disord 1996, 12:363-370.
36. Kurlan R, Behr J, Medved L, Shoulson I: Myoclonus and dystonia: a family study. Adv Neurol 1988, 50:385-389.
37. Mahloudji M, Pikielny RT: Hereditary essential myoclonus. Brain 1967, 90:669-674.
38. Kyllerman M, Forsgren L, Sanner G, Holmgren G, Wahlstrom J, Drugge U: Alcohol-responsive myoclonic dystonia in a large family: dominant inheritance and phenotypic variation. Movement Disord 1990, 5:270-279.
39. Quinn NP, Marsden CD: Dominantly inherited myoclonic dystonia with dramatic response to alcohol [abstract]. Neurology 1984, 34:236-237.
40. Kyllerman M, Sanner G, Forsgren L, Holmgren G, Wahlstrom J: Early onset dystonia decreasing with development. Case report of two children with familial myoclonic dystonia. Brain Dev 1993, 15:295-298.
41. Fahn S, Sjaastad O: Hereditary essential myoclonus in a large Norwegian family. Movement Disord 1991, 6:237-247.
42. Wahlstrom J, Ozelius L, Kramer P, Kyllerman M, Schuback D, Forsgren L, Holmgren G, Drugge U, Sanner G, Fahn S et al.: The gene for familial dystonia with myoclonic jerks responsive to alcohol Is not located on the distal end of 9q. CIm Genet 1994, 45:88-92.
43. Wilhelmsen KC, Nygaard T, Weeks DE, Przuntek H, Kraus P, Klotz P, Quinn NP, Sjaastad O, Fahn S: Progress in genetic localization of the gene for hereditary essential myoclonus [abstract]. Movement Disord 1994, 9:132.
44. Gasser T, Oehlmann R, Bereznai B, Pruszak-Seel R, Oertel WH, Deuschl G, Horstmann R, Muller-Myhsok B: Genetic linkage studies in alcohol-responsive myoclonic dystonia. J Neurol 1996, 243 (suppl 2):S42.
45. Nygaard TG, Trugman JM, de Yebenes JG, Fahn S: Dopa-responsive dystonia: the spectrum of clinical manifestations in a large North American family. Neurology 1990, 40:66-69.
46. Segawa M, Hosaka A, Miyagwa F, Nomura Y, Imai H: Hereditary progressive dystonia with marked diurnal variation. Adv Neurol 1976, 14:251-233.
47. Nygaard TG, Marsden CD, Fahn S: Dopa-responsive dystonia: long-term treatment response and prognosis. Neurology 1991, 41:174-181.
48. Thierry D, Roulet E, Ghika J, Zesiger P: Dopa-responsive childhood dystonia: a forme fruste with writer's cramp, triggered by exercise. Dev Med Child Neurol 1997, 39:49-53.
49. Chen RS, Huang CC, Lu CS: Dopa-responsive dystonia: clinical and family study in Taiwanese. Clin Neurol Neurosurg 1996, 98:43-46.
50. Nygaard TG, Takahashi H, Heiman GA, Snow BJ, Fahn S, Calne DB: Long-term treatment response and fluorodopa positron emission tomographic scanning of parkinsonism in a family with dopa-responsive dystonia. Ann Neurol 1992, 32:603-608.
51. Nygaard T: Dopa-responsive dystonia. In Handbook of Dystonia. Edited by Tsui JKC, Calne DB. New York: Marcel Dekker; 1995:213-226.
52. Furukawa Y, Shimadzu M, Rajput AH, Shimizu Y, Tagawa T, Mori H, Yokochi M, Narabayashi H, Hornykiewicz O, Mizuno Y, Kish SJ: GTP-cyclohydrolase I gene mutations in hereditary progressive and dopa-responsive dystonia. Ann Neurol 1996, 39:609-617. This is a careful study of molecular and biochemical alterations in patients with DRD that contributes to the understanding of the molecular pathogenesis of the disease.
53. Bandmann O, Nygaard T, Surtees R, Marsden CD, Wood NW, Harding AE: Dopa-responsive dystonia in British patients: new mutations of the GTP-cyclohydrolase I gene and evidence for genetic heterogeneity. Hum Mol Genet 1996, 5:403-406.
54. Hirano M, Tamaru Y, Nagai Y, Ito H, Imai T, Ueno S: Exon skipping caused by a base substitution at a splice site in the GTP cyclohydrolase I gene in a Japanese family with hereditary progressive dystonia dopa responsive dystonia. Biochem Biophys Res Commun 1995, 213:645-651.
55. Hirano M, Tamaru Y, Ito H, Matsumoto S, Imai T, Ueno S: Mutant GTP cyclohydrolase I mRNA levels contribute to dopa-responsive dystonia. Ann Neurol 1996, 40:796-798.
56. Bandmann O, Daniel S, Marsden CD, Wood NW, Harding AE: The GTP cyclohydrolase I gene in atypical parkinsonian patients: a clinicogenetic study. J Neurol Sci 1996, 141:27-32.
57. Ludecke B, Dworniczak B, Bartholome K: A point mutation in the tyrosine hydroxylase gene associated with Segawa's syndrome. Hum Genet 1995, 95:123-125.