DYT1 Dystonia

Genetics of Movement Disorders

Volumn , Issue , 2003, Pages 407-418

  Ozelius, Laurie J ^a   Bressman, Susan B ^b  

^a ALBERT EINSTEIN COLLEGE OF MEDICINE   (United States)

^b BETH ISRAEL MEDICAL CENTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

EID: 2442621001     PISSN: None     EISSN: None     Source Type: Book    
DOI: 10.1016/B978-012566652-7/50038-1     Document Type: Chapter

References (95)

1. Ahmari S.E., Buchanan J., Smith S.J. Assembly of presynaptic active zones from cytoplasmic transport packets. Nat. Neurosci. 2000, 3:445-451.
2. Akiyama Y., Shirai Y., Ito K. Involvement of FtsH in protein assembly into and through, the membrane. J. Biol. Chem. 1994, 269:5225-5229.
3. Augood S.J., Penney J.B., Friberg I., Breakefield X.O., Young A., Ozelius L.J., Standaert D.G. Expression of the early-onset torsion dystonia gene (DYT1) in human brain. Ann. Neurol. 1998, 43:669-673.
4. Augood S.J., Martin D.M., Ozelius L.J., Breakefield X.O., Penney J.B.J., Standaert D.G. Distribution of the mRNAs encoding torsinA and torsinB in the adult human brain. Ann. Neurol. 1999, 46:761-769.
5. Basham S.E., Rose L.S. Mutations in ooc-5 and ooc-3 disrupt oocyte formation and the reestablishment of asymmetric PAR protein localization in two-cell Caenorhabditis elegans embryos. Dev. Biol. 1999, 215:253-263.
6. Basham S.E., Rose L.S. The Caenorhabditis elegans polarity gene ooc-5 encodes a Torsin-related protein of the AAA ATPase superfamily. Development 2001, 128:4645-4656.
7. Brassat D., Camuzat A., Vidailhet M., Feki I., Jedynak P., Klap P., Agid Y., Durr A., Brice A. Frequency of the DYT1 mutation in primary torsion dystonia without family history. Arch. Neurol. 2000, 57:333-335.
8. Breakefield X.O., Kamm C., Hanson P.I. TorsinA: movement at many levels. Neuron 2001, 31:9-12.
9. Breakefield X.O., Ozelius L., Hanson P., Dauer W. From gene to function in dystonia. DMRF/NINDS Workshop report 2001.
10. Bressman S.B., de Leon D., Brin M.F., Risch N., Burke R.E., Greene P.E., Shale H., Fahn S. Idiopathic torsion dystonia among Ashkenazi Jews: Evidence for autosomal dominant inheritance. Ann. Neurol. 1989, 26:612-620.
11. Bressman S.B., de Leon D., Kramer P.L., Ozelius L.J., Brin M.F., Greene P.E., Fahn S., Breakefield X.O., Risch N.J. Dystonia in Ashkenazi Jews: clinical characterization of a founder mutation. Ann. Neurol. 1994, 35:771-777.
12. Bressman S.B., Fahn S. Childhood Dystonia. Movement Disorders: Neurologic Principlas and Practice 1997, 419-428. McGraw-Hill, New York. R.L. Watts, W.C. Koller (Eds.).
13. Bressman S.B., Sabatti C., Raymond D., De Leon D., Klein C., Kramer P.L., Brin M.F., Fahn S., Breakefield X.O., Ozelius L.J., Risch N.J. The DYT1 phenotype and guidelines for diagnostic testing. Neurology 2000, 54:1746-1752.
14. Bressman S.B., Greene P.E. Dystonia. Curr. Treat. Options Neurol. 2000, 2:275-285.
15. Brown A., Bernier G., Mathieu M., Rossant J., Kothary R. The mouse dystonia musculorum gene is a neural isoform of bullous pemphigoid antigen 1. Nat. Genet. 1995, 10:301-306.
16. Burke R.E., Fahn S., Marsden C.D. Torsion dystonia: a double blind, prospective trial of high dosage trihexyphenidyl. Neurology 1986, 36:160-164.
17. Carbon M., Ghilardi M.F., Dhawan V., Ghez C.P., Eidelberg D. Brain networks subserving motor sequence learning in DYT1 gene carriers. Neurology 2002, Abstract P03.067.
18. Coubes P., Roubertie A., Vayssiere N., Hemm S., Echenne B. Treatment of DYT1-generalized dystonia by stimulation of the internal globus pallidus. Lancet 2000, 355:2220-2221.
19. Dauer W.T., Kumar P., Ozelius L.J., Breakefield X.O., Fahn S., Hen R. Characterization of the motor phenotype of DYT1 mutant mice. Soc. Neurosci. Abst. 2000, 27. Program No. 572.8, 2000.
20. Doheny, D., Danisi, F., Smith, C., Morrison, C., Velickovic, M., de Leon, D., Bressman, S. B., Leung J., Ozelius, L., Klein, C., Breakefield, X. O., Brin, M. F., Silverman, J. M. (in press). Clinical findings of a myoclonas-dystonia family with two distinct mutations. Neurology.
21. Dron M., Meritet J.F., Dandoy-Dron F., Meyniel J.P., Maury C., Tovey M.G. Molecular cloning of ADIR, a novel interferon responsive gene encoding a protein related to the torsins. Genomics 2002, 79:315-325.
22. Eidelberg D., Moeller J.R., Antonini A., Dhawan V., Spetsieris P., de Leon D., Ghilardi M.F., Ghez C., Bressman S., Fahn S. Functional brain networks in DYT1 dystonia. Ann. Neurol. 1998, 44:303-312.
23. Eldridge R. The torsion dystonia: literature review: genetic and clinical studies. Neurology 1970, 20:1-78.
24. Sex-related influences on the frequency and age of onset of primary dystonia. Neurology 1999, 53:1871-1873. ESDE (Epidemiology Study of Dystonia in Europe Collaborative Group).
25. A prevalence study of primary dystonia in eight European countries. J. Neurol. 2000, 247:787-792. ESDE (Epidemiology Study of Dystonia in Europe Collaborative Group).
26. Fahn S., Marsden C.D., Calne D.B. Classification and investigation of dystonia. Movement Disorders 1987, 2:332-358. Butterworth, London. C.D. Marsden, S. Fahn (Eds.).
27. Fletcher N.A., Harding A.E., Marsden C.D A genetic study of idiopathic torsion dystonia in the United Kingdom. Brain 1990, 113:379-396.
28. Ford B., Greene P.E., Louis E., Petzinger G., Bressman S.B., Goodman R., Brin M.F., Fahn S. Use of intrathecal baclofen in patients with dystonia. Arch. Neurol. 1996, 53:1241-1246.
29. Friedman J.R., Klein C., Leung J., Woodward H., Ozelius L.J., Breakefield X.O., Charness M.E. The GAG deletion of the DYT1 gene is infrequent in musicians with focal dystonia. Neurology 2000, 55:1417-1418.
30. Furukawa Y., Hornykiewicz O., Fahn S., Kish S.J. Striatal dopamine in early-onset primary torsion dystonia with the DYT1 mutation. Neurology 2000, 54:1193-1195.
31. Gasser T., Windgassen K., Bereznai B., Kabus C., Ludolph A.C. Phenotypic expression of the DYT1 mutation: a family with writer's cramp of juvenile onset. Ann. Neurol. 1998, 44:126-128.
32. Greene P.E., Shale H., Fahn S. Analysis of open-label trials in torsion dystonia using high dosages of anticholinergics and other drugs. Mov. Disord. 1988, 3:46-60.
33. Greene P.E., Fahn S. Baclofen in the treatment of idiopathic dystonia in children. Mov. Disord. 1992, 7:48-52.
34. Greene P., Kang U.J., Fahn S. Spread of symptoms in idiopathic torsion dystonia. Mov. Disord. 1995, 10:143-152.
35. Guo L., Degenstein L., Dowling J., Yu Q.C., Wollmann R., Perman B., Fuchs E. Gene targeting of BPAG1: abnormalities in mechanical strength and cell migration in stratified epithelia and neurologic degeneration. Cell 1995, 81:233-243.
36. Hedreen J.C., Zweig R.M., DeLong M.R., Whitehouse P.J., Price D.L. Primary dystonias: A review of the pathology and suggestions for new directions of study. Adv. Neurol. 1988, 50:123-132.
37. Hewett J., Gonzalez-Agosti C., Slater D., Li S., Ziefer P., Bergeron D., Jacoby D.J., Ozelius L.J., Ramesh V., Breakefield X.O. Mutant torsinA, responsible for early onset torsion dystonia, forms membrane inclusions in cultured neural cells. Hum. Mol. Genet. 2000, 22:1403-1413.
38. Ikeuchi T., Shimohata T., Nakano R., Koide R., Takano H., Tsuji S. A case of primary torsion dystonia in Japan with the 3-bp (GAG) deletion in the DYT1 gene with a unique clinical presentation. Neurogenetics 1999, 2:189-190.
39. Jankovic J., Orman J. Tetrabenazine treatment in dystonia, chorea, tics, and other dyskinesias. Neurology 1988, 38:391-394.
40. Kamm C., Castelon-Konkiewitz E., Naumann M., Heinen F., Brack M., Nebe A., Ceballos-Baumann A., Gasser T. GAG deletion in the DYT1 gene in early limb-onset idiopathic torsion dystonia in Germany. Mov. Disord. 1999, 14:681-683.
41. Kamm C., Naumann M., Mueller J., Mai N., Riedel L., Wissel J., Gasser T. The DYT1 GAG deletion is infrequent in sporadic and familial writer's cramp. Mov. Disord. 2000, 15:1238-1241.
42. Klein C., Brin M.F., de leon D., Limborska S.A., Ivanova-Smolenskaya I.A., Bressman S.B., Friedman A., Karkova E.D., Risch N.J., Breakefield X.O., Ozelius L.J. De novo mutations (GAG deletion) in the DYT1 gene in two non-Jewish patients with early-onset dystonia. Hum. Mol. Genet. 1998, 7:1133-1136.
43. Klein C., Friedman J., Bressman S., Vieregge P., Brin M.F., Pramstaller P.P., de Leon D., Hagenah J., Sieberer M., Fleet C., Kiely R., Xin W., Breakefield X.O., Ozelius L.J., Sims K.B. Genetic testing for early-onset torsion dystonia (DYT1): Introduction of a simple screening method, experiences from testing of a large patient cohort, and ethical aspects. Genet. Test. 1999, 3:323-328.
44. Konakova M., Pulst S.M. Immunocytochemical characterization of torsin proteins in mouse brain. Brain Res. 2001, 922:1-8.
45. Konakova M., Huynh D.P., Yong W., Pulst S.M. Cellular distribution of torsin A and torsin B in normal human brain. Arch. Neurol. 2001, 58:921-927.
46. Kramer L.P., de Leon D., Ozelius L., Risch N.J., Bressman S.B., Brin M.F., Schuback D.E., Burke R.E., Fahn S., Breakefield X.O. Dystonia gene in Ashkenazi Jewish population is located in chromosome 9p32-34. Ann. Neurol. 1990, 27:114-120.
47. Kramer P.L., Heiman G., Gasser T., Ozelius L., deLeon D., Brin M.F., Burke R.E., Hewett J., Hunt A., Moskowitz C., Nygaard T.G., Wilhelmsen K., Fahn S., Breakefield X.O., Risch N.J., Bressman S.B. The DYT1 gene on 9q34 is responsible for most cases of early-onset idiopoathic torsion dystonia in non-Jews. Am. J. Hum. Genet. 1994, 55:468-475.
48. Kumar R., Maraganore D.M., Ahlskog J.E., Rodriguez M. Treatment of putative immune-mediated idiopathic cervical dystonia with intravenous methylprednisolone. Neurology 1997, 48:732-735.
49. Kumar R., Dagher A., Hutchison W.D., Lang A.E., Lozano A.M. Globus pallidus deep brain stimulation for generalized dystonia: clinical and PET investigation. Neurology 1999, 11:871-874.
50. Kustedjo K., Bracey M.H., Cravatt B.F. Torsin A and its torsion dystonia-associated mutant forms are lumenal glycoproteins that exhibit distinct subcellular localizations. J. Biol. Chem. 2000, 275:27933-27939.
51. Lai T., Lai J.M., Grossman R.G. Functional recovery after bilateral pallidotomy for the treatment of early-onset primary generalized dystonia. Arch. Phys. Med. Rehab. 1999, 80:1340-1342.
52. Lebre A.S., Durr A., Jedtnak P., Ponsot G., Vidailhaet M., Agid T., Brice A. DYT1 Mutation in French families with idiopathic torsion dystonia. Brain 1999, 122:41-45.
53. LeDoux M.S., Lorden J.F., Meinzen-Derr J. Selective elimination of cerebellar output in the genetically dystonic rat. Brain Res. 1995, 697:91-103.
54. Leube B., Kessler K.R., Ferbert A., Ebke M., Schwendemann G., Erbguth F., Benecke R., Auburger G. Phenotypic variability of the DYT1 mutation in German dystonia patients. Acta Neurol. Scand. 1999, 99:248-251.
55. Leung J., Klein C., Friedman J., Vieregge P., Helfried J., Doheny D., Kamm C., DeLeon D., Pramstaller P., Penney J., Eisengart M., Jankovic J., Gasser T., Bressman S., Corey D., Kramer P., Brin M., Ozelius L., Breakefield X.O. Novel mutation in the TOR1A (DYT1) gene in atypical, early onset dystonia and polymorphisms in dystonia and early onset parkinsonism. Neurogenetics 2001, 3:133-143.
56. Lozano A.M., Kumar R., Gross R.E., Giladi N., Hutchinson W.D., Dostrovsky J.O., Lang A.E. Globus pallidus internus pallidotomy for generalized dystonia. Mov. Disord. 1997, 12:841.
57. Lucetti C., Nuti A., Gambacinni G., Bernardini S., Brotini S., Manca M.L., Bonuccelli U. Mexiletine in the treatment of torticollis and generalized dystonia. Clin. Neuropharmacol. 2000, 23:186-189.
58. Lupas A., Flanagan J.M., Tamura T., Baumeister W. Self-compartmentalization proteases. Trends Biochem. Sci. 1997, 22:399-404.
59. Major T., Svetel M., Romac S., Kostic V.S. DYT1 mutation in primary torsion dystonia in a Serbian population. J. Neurol. 2001, 248:940-943.
60. Marsden C.D., Harrison M.S.G. Idiopathic torsion dystonia (dystonia musculorum deformans): a review of forty-two patients. Brain 1974, 97:793-810.
61. Marsden C.D., Marion M.H., Quinn N. The treatment of severe dystonia in children and adults. J. Neurol. Neurosurg. Psychiatry 1984, 36:160-164.
62. Matsumoto S., Nishimura M., Kaji R., Sakamoto T., Mezaki T., Shimazu H., Murase N., Shibasaki H. DYT1 mutation in Japanese patients with primary torsion dystonia. Neuroreport 2001, 12:793-795.
63. Missiakas D., Schwager F., Betton J-M., Georgopoulos C., Raina J. Identification and characterization of HS1V HS1U (ClpQ ClpY) proteins involved in overall proteolysis of misfolded proteins in Eschericia coli. EMBO J. 1996, 15:6899-6909.
64. Neuwald A.F., Aravind L., Spouge J.L., Koonin E.V. AAA+: A class of chaperone-like ATPases associated with the assembly, operation, and dissassembly of protein complexes. Genome Res. 1999, 9:27-43.
65. 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. 1988, 3:188-194.
66. Ohara S., Hayashi R., Momoi H., Miki J., Yanagisawa N. Mexilitine in the treatment of spasmodic torticollis. Mov. Disord. 1998, 13:934-940.
67. Oppenheim H. über eine eigenartige Krampfkrankheit des kindlichen und jugendlichen Alters (Dysbasia lordotica progressiva, dystonia musculorum deformans). Neurol. Centralbl. 1911, 30:1090-1107.
68. Ozelius L., Kramer P., Moskowitz C.B., Kwiatkowski D., Brin M.F., Bressman S.B., Schuback D.E., Falk C., Risch N., de Leon D., Burke R.E., Haines J., Gusella J., Fahn S., Breakefield X.O. Human gene for torsion dystonia located on chromosome 9q32-34. Neuron. 1989, 2:1427-1434.
69. Ozelius L.J., Kramer P.L., de Leon D., Risch N., Bressman S.B., Schuback D.E., Brin M.F., Kwiatkowski D.J., Burke R.E., Gusella J.F., Fahn S., Breakefield X.O. 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.
70. Ozelius L.J., Hewett J.W., Page C.E., Bressman S.B., Kramer P.L., Shalish C., de Leon D., Brin M.F., Raymond D., Corey D.P., Fahn S., Risch M.J., Buckler A.J., Gusella J.F., Breakefield X.O. The early onset torsion dystonia gene (DYT1) encodes an ATP-binding protein. Nat. Genet. 1997, 17:40-48.
71. Ozelius L.J., Hewett J., Kramer P., Bressman S.B., Shalish C., de Leon D., Rutter M., Risch N.J., Brin M.F., Markova E.D., Limborska S.A., Ivanova-Smolenskaya I.A., McCormack M.F., Fahn S., Buckler A.J., Gusella J.F., Breakefield X.O. Fine localization of the dystonia gene (DYT1) on human chromosome 9q34:YAC map and linkage disequilibrium. Genome Res. 1997, 7:483-496.
72. Ozelius LJ, Page CE, Klein C, Hewett JW, Mineta M, Leung J, Shalish C, Bressman SB, de Leon D, Brin MF, Fahn S, Corey DP, Breakefield XO The TOR1A (DYT1) gene family and its role in early onset torsion dystonia. Genomics 1999, 62:377-384.
73. Pauls D.L., Korczyn A.D. Complex segregation analysis of dystonia pedigrees suggests autosomal dominant inheritance. Neurology 1990, 40:1107-1110.
74. Risch N.J., Bressman S.B., de Leon D., Brin M.F., Burke R.E., Greene P.E., Shale H., Claus E.B., Cupples L.A., Fahn S. Segregation analysis of idiopathic torsion dystonia in Ashkenazi Jews suggests autosomal dominant inheritance. Am. J. Hum. Genet. 1990, 46:533-538.
75. Risch N., deLeon 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. Nat. Genet. 1995, 9:152-159.
76. Rostasy, K., Augood, S., Hewett, J., Cheung-on Leung, J., Sasaki, H., Ozelius, L., Standaert, D., Breakefield, X. O., and Hedreen, J. Comparison of torsinA in the normal human brain with early onset generalized dystonia with GAG deletion, submitted.
77. Schwalbe W. Eine eigentümliche tonische Krampfform mit hysterischen Symptomen. Thesis 1908, Berlin.
78. Schirmer E.C., Glover J.R., Singer M.A., Lindquist S. HSP100/Clp proteins: a common mechanism explains diverse functions. TIBS 1996, 21:289-296.
79. Sharma N., Hewett J., Ozelius L.J., Ramesh V., McLean P.J., Breakefield X.O., Hyman B.T. A close association of torsinA and alpha-synuclein in Lewy bodies: a fluorescence resonance energy transfer study. Am. J. Pathol. 2001, 159:339-344.
80. Shashidharan P., Kramer C., Walker R., Olanor C.W., Brin M.F. Immunohistochemical localization and distribution of torsinA in normal human and rat brain. Brain Res. 2000, 853:197-206.
81. Shashidharan P., Good P.F., Hsu A., Perl D.P., Brin M.F., Olanow C.W. TorsinA accumulation in Lewy bodies in sporadic Parkinson's disease. Brain Res. 2000, 877:379-381.
82. Slominski P.A., Markova E.D., Shadrina M.I., Illarioshkin S.N., Miklina N.I., Limborska S.A., Ivanova-Smolenskaya I.A. A common 3-bp deletion in the DYT1 gene in Russian families with early-onset torsion dystonia. Hum. Mutat. 1999, 14:269.
83. Tuffery-Giraud S., Cavalier L., Roubertie A., Guittard C., Carles S., Calvas P., Echenne B., Coubes P., Claustres M. No evidence of allelic heterogeneity in the DYT1 gene of European patients with early onset torsion dystonia. J. Med. Genet. 2001, 38:E35.
84. Vale R.D. AAA proteins: Lords of the ring. J. Cell. Biol. 2000, 150:F13-F19.
85. Valente E.M., Warner T.T., Jarman P.R., Mathen D., Fletcher N.A., Marsden C.D., Bhatia K.P., Wood N.W. The role of primary torsion dystonia in Europe. Brain 1998, 121:2335-2339.
86. Walker R.H., Danisi F.O., Swope D.M., Goodman R.R., Germano I.M., Brin M.F. Intrathecal baclofen for dystonia: benefits and complications during six years experience. Mov. Disord. 2000, 15:1242-1247.
87. Walker R.H., Brin M.F., Sandu D., Gujjari P., Hof P.R., Warren Olanow C., Shashidharan P. Distribution and immunohistochemical characterization of torsinA immunoreactivity in rat brain. Brain Res. 2001, 900:348-354.
88. Walker R.H., Brin M.F., Sandu D., Good P.F., Shashidharan P. TorsinA immunoreactivity in brains of patients with DYT1 and non-DYT1 dystonia. Neurology 2002, 58:120-124.
89. Warner T., Fletcher N.A., Davis M.B., Ahmad F., Conway D., Feve A., Rondot P., Kwiatkowski D.J., Marsden C.D., Harding A.E. Linkage analysis in British families with idiopathic torsion dystonia. Brain 1993, 116:739-744.
90. Whiteheart S.W., Rossnagel K., Buhrow S.A., Brunner M., Jaenicke R., Rothman J.E. N-ethylmaleimids-sensitive fusion protein: A trimeric ATPase whose hydrolysis of ATP is required for membrane fusion. J. Cell. Biol. 1994, 125:945-954.
91. Zeman W., Dyken P. Dystonia musculorum deformans; clinical, genetic and pathoanatomical studies. Psychiatr. Neurol. Neurochir. 1967, 70:77-121.
92. Zeman W. Pathology of the torsion dystonias (dystonia musculorum deformans). Neurology 1970, 20(No. 11):79-88. Part 2.
93. Ziefer P., Leung J., Razzano T., Shalish C., LeDoux M., Lorden J., Ozelius L.J., Breakefield X.O., Standaert D., Augood S. Molecular cloning and expression of rat torsinA in the normal and genetically dystonic (dt/dt) rat. Mol. Brain Res. 2002, 101:132-135.
94. Zilber N., Korczyn A.D., Kahana E., Fried K., Alter M. Inheritance of idiopathic torsion dystonia among Jews. J. Med. Genet. 1984, 21:13-20.
95. Zudas A., Cianchetti C. Efficacy of risperidone in idiopathic segmental dystonia. Lancet 1996, 347:127-128.