Human Molecular Genetics, Vol 5, 1673-1677, Copyright © 1996 by Oxford University Press
B Leube, D Rudnicki, T Ratzlaff, KR Kessler, R Benecke and G Auburger
Idiopathic torsion dystonia (ITD) is a group of movement disorders which is
usually inherited in an autosomal dominant manner with reduced penetrance.
Most patients with ITD present with focal dystonia at adult age. However,
thus far, this common subform remained unmapped chromosomally. In contrast,
a rare early onset, more generalized form of ITD has been mapped to
chromosome 9q34. Our linkage study in a large pedigree with seven
definitely affected, six possibly affected and 16 phenotypically unaffected
family members assigns an ITD gene for the common focal form with a maximal
lod score of 3.17 to the region telomeric of D18S1153 on chromosome 18p.
ARTICLES
Idiopathic torsion dystonia: assignment of a gene to chromosome 18p in a German family with adult onset, autosomal dominant inheritance and purely focal distribution
Department of Neurology, University Hospital, Dusseldorf, Germany.
CiteULike 
Connotea 
Del.icio.us What's this?
This article has been cited by other articles:
|
|
 |
|
  U. Muller The monogenic primary dystonias Brain, July 3, 2009; (2009) awp172v1. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 A. Schmidt, H. -C. Jabusch, E. Altenmuller, J. Hagenah, N. Bruggemann, K. Lohmann, L. Enders, P. L. Kramer, R. Saunders-Pullman, S. B. Bressman, et al. Etiology of musician's dystonia: Familial or environmental? Neurology, April 7, 2009; 72(14): 1248 - 1254. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
G. Defazio, A. Berardelli, and M. Hallett Do primary adult-onset focal dystonias share aetiological factors? Brain, May 1, 2007; 130(5): 1183 - 1193. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
A. Schmidt, H. -C. Jabusch, E. Altenmuller, J. Hagenah, N. Bruggemann, K. Hedrich, R. Saunders-Pullman, S. B. Bressman, P. L. Kramer, and C. Klein Dominantly transmitted focal dystonia in families of patients with musician's cramp. Neurology, August 22, 2006; 67(4): 691 - 693. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
R. Saunders-Pullman, J. Soto-Valencia, C. Costan-Toth, J. Shriberg, D. Raymond, C. A. Derby, R. B. Lipton, and S. B. Bressman A new screening tool for cervical dystonia Neurology, June 28, 2005; 64(12): 2046 - 2049. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
S. O'Riordan, D. Raymond, T. Lynch, R. Saunders-Pullman, S. B. Bressman, L. Daly, and M. Hutchinson Age at onset as a factor in determining the phenotype of primary torsion dystonia Neurology, October 26, 2004; 63(8): 1423 - 1426. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 F Brancati, E M Valente, M Castori, N Vanacore, M Sessa, G Galardi, A Berardelli, A R Bentivoglio, G Defazio, P Girlanda, et al. Role of the dopamine D5 receptor (DRD5) as a susceptibility gene for cervical dystonia J. Neurol. Neurosurg. Psychiatry, May 1, 2003; 74(5): 665 - 666. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
G. Defazio, G. Abbruzzese, P. Girlanda, M. Buccafusca, A. Curra, R. Marchese, D. Martino, G. Masi, L. Mazzella, L. Vacca, et al. Primary cervical dystonia and scoliosis: A multicenter case-control study Neurology, March 25, 2003; 60(6): 1012 - 1015. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
D. A. Grimes, F. Han, A. E. Lang, P. St. George-Hyssop, L. Racacho, and D. E. Bulman A novel locus for inherited myoclonus-dystonia on 18p11 Neurology, October 22, 2002; 59(8): 1183 - 1186. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
A. H. Nemeth The genetics of primary dystonias and related disorders Brain, April 1, 2002; 125(4): 695 - 721. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 S. Tuffery-Giraud, L. Cavalier, A. Roubertie, C. Guittard, S. Carles, P. Calvas, B. Echenne, P. Coubes, and M. Claustres No evidence of allelic heterogeneity in the DYT1 gene of European patients with early onset torsion dystonia J. Med. Genet., October 1, 2001; 38 (10): e35 - e35. [Full Text] [PDF]
|
|
|
|
|
|
A MUNCHAU and A M BRONSTEIN Role of the vestibular system in the pathophysiology of spasmodic torticollis J. Neurol. Neurosurg. Psychiatry, September 1, 2001; 71(3): 285 - 288. [Full Text] [PDF]
|
|
|
|
|
|
M R Placzek, A Misbahuddin, K R. Chaudhuri, N W Wood, K P Bhatia, and T T Warner Cervical dystonia is associated with a polymorphism in the dopamine (D5) receptor gene J. Neurol. Neurosurg. Psychiatry, August 1, 2001; 71(2): 262 - 264. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
C. McDermott, K White, K Bushby, and P. Shaw Hereditary spastic paraparesis: a review of new developments J. Neurol. Neurosurg. Psychiatry, August 1, 2000; 69(2): 150 - 160. [Full Text] [PDF]
|
|
|
|
|
|
P R Jarman, N del Grosso, E M Valente, B Leube, E Cassetta, A R Bentivoglio, H M Waddy, R J Uitti, D M Maraganore, A Albanese, et al. Primary torsion dystonia: the search for genes is not over J. Neurol. Neurosurg. Psychiatry, September 1, 1999; 67(3): 395 - 397. [Abstract] [Full Text]
|
|
|
|
|
|
D. Steinberger, H. Topka, D. Fischer, and U. Muller GCH1 mutation in a patient with adult-onset oromandibular dystonia Neurology, March 1, 1999; 52(4): 877 - 877. [Abstract] [Full Text]
|
|
|
|
|
|
T T WARNER and P JARMAN The molecular genetics of the dystonias J. Neurol. Neurosurg. Psychiatry, April 1, 1998; 64(4): 427 - 429. [Full Text] [PDF]
|
|
|
|
|
|
K. P Bhatia, N. P Quinn, and C D. Marsden Clinical features and natural history of axial predominant adult onset primary dystonia J. Neurol. Neurosurg. Psychiatry, December 1, 1997; 63(6): 788 - 791. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 L. J. Ozelius, J. Hewett, P. Kramer, S. B. Bressman, C. Shalish, D. de Leon, M. Rutter, N. Risch, M. F. Brin, E. D. Markova, et al. Fine Localization of the Torsion Dystonia Gene (DYT1) on Human Chromosome 9q34: YAC Map and Linkage Disequilibrium Genome Res., May 1, 1997; 7(5): 483 - 494. [Abstract] [Full Text] [PDF]
|
|