Brain, Vol. 125, No. 4, 695-721,
April 2002
© 2002 Guarantors of Brain
Review Article |
The genetics of primary dystonias and related disorders
1 The Wellcome Trust Centre for Human Genetics, Roosevelt Drive, Headington, Oxford OX3 7BN, UK E-mail: andrea.nemeth{at}well.ox.ac.uk
Dystonias are a heterogeneous group of disorders which are known to have a strong inherited basis. This review details recent advances in our understanding of the genetic basis of dystonias, including the primary dystonias, the ‘dystonia-plus’ syndromes and heredodegenerative disorders. The review focuses particularly on clinical and genetic features and molecular mechanisms. Conditions discussed in detail include idiopathic torsion dystonia (DYT1), focal dystonias (DYT7) and mixed dystonias (DYT6 and DYT13), dopa-responsive dystonia, myoclonus dystonia, rapid-onset dystonia parkinsonism, Fahr disease, Aicardi–Goutieres syndrome, Hallervorden–Spatz syndrome, X-linked dystonia parkin sonism, deafness–dystonia syndrome, mitochondrial dystonias, neuroacanthocytosis and the paroxysmal dystonias/dyskinesias.
CiteULike 
Connotea 
Del.icio.us What's this?
This article has been cited by other articles:
|
|
 |
|
  P. L. Pearl, J. L. Taylor, S. Trzcinski, and A. Sokohl The Pediatric Neurotransmitter Disorders J Child Neurol, May 1, 2007; 22(5): 606 - 616. [Abstract] [PDF]
|
|
|
|
 |
|
 C. T. Esapa, A. Waite, M. Locke, M. A. Benson, M. Kraus, R.A. J. McIlhinney, R. V. Sillitoe, P. W. Beesley, and D. J. Blake SGCE missense mutations that cause myoclonus-dystonia syndrome impair {varepsilon}-sarcoglycan trafficking to the plasma membrane: modulation by ubiquitination and torsinA Hum. Mol. Genet., February 1, 2007; 16(3): 327 - 342. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 M. Fiorio, M. Gambarin, E. M. Valente, P. Liberini, M. Loi, G. Cossu, G. Moretto, K. P. Bhatia, G. Defazio, S. M. Aglioti, et al. Defective temporal processing of sensory stimuli in DYT1 mutation carriers: a new endophenotype of dystonia? Brain, January 1, 2007; 130(1): 134 - 142. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 I. Le Ber, F. Clot, L. Vercueil, A. Camuzat, M. Viemont, N. Benamar, P. De Liege, A. M. Ouvrard-Hernandez, P. Pollak, G. Stevanin, et al. Predominant dystonia with marked cerebellar atrophy: A rare phenotype in familial dystonia Neurology, November 28, 2006; 67(10): 1769 - 1773. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 D. Tarsy and D. K. Simon Dystonia N. Engl. J. Med., August 24, 2006; 355(8): 818 - 829. [Full Text] [PDF]
|
|
|
|
|
|
N. Venna, K. B. Sims, and P. E. Grant Case 26-2006 -- A 19-Year-Old Woman with Difficulty Walking N. Engl. J. Med., August 24, 2006; 355(8): 831 - 839. [Full Text] [PDF]
|
|
|
|
 |
|
 F. Yokoi, M. T. Dang, J. Li, and Y. Li Myoclonus, Motor Deficits, Alterations in Emotional Responses and Monoamine Metabolism in {varepsilon}-Sarcoglycan Deficient Mice J. Biochem., July 1, 2006; 140(1): 141 - 146. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 J L K Van Hove, J Steyaert, G Matthijs, E Legius, P Theys, R Wevers, A Romstad, L B Moller, K Hedrich, D Goriounov, et al. Expanded motor and psychiatric phenotype in autosomal dominant Segawa syndrome due to GTP cyclohydrolase deficiency J. Neurol. Neurosurg. Psychiatry, January 1, 2006; 77(1): 18 - 23. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 D. Martino, M. S. Aniello, G. Masi, P. Lamberti, V. Lucchese, S. Lamberti, P. Livrea, A. Berardelli, and G. Defazio Validity of Family History Data on Primary Adult-Onset Dystonia Arch Neurol, October 1, 2004; 61(10): 1569 - 1573. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
O. Detante, L. Vercueil, S. Thobois, E. Broussolle, N. Costes, F. Lavenne, S. Chabardes, D. Lebars, M. Vidailhet, A.-L. Benabid, et al. Globus pallidus internus stimulation in primary generalized dystonia: a H215O PET study Brain, August 1, 2004; 127(8): 1899 - 1908. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
N. L. Khan, N. W. Wood, and K. P. Bhatia Autosomal recessive, DYT2-like primary torsion dystonia: A new family Neurology, December 23, 2003; 61(12): 1801 - 1803. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
G. A. Caldwell, S. Cao, E. G. Sexton, C. C. Gelwix, J. P. Bevel, and K. A. Caldwell Suppression of polyglutamine-induced protein aggregation in Caenorhabditis elegans by torsin proteins Hum. Mol. Genet., February 1, 2003; 12(3): 307 - 319. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
P. R Jarman and N. W Wood Genetics of movement disorders and ataxia J. Neurol. Neurosurg. Psychiatry, December 1, 2002; 73(90002): ii22 - 26. [Full Text] [PDF]
|
|
|
|
 |
|
 Update on the Genetics of the Hereditary Dystonias Journal Watch Neurology, August 9, 2002; 2002(809): 4 - 4. [Full Text]
|
|