The world's first wiki where authorship really matters (Nature Genetics, 2008). Due credit and reputation for authors. Imagine a global collaborative knowledge base for original thoughts. Search thousands of articles and collaborate with scientists around the globe.

wikigene or wiki gene protein drug chemical gene disease author authorship tracking collaborative publishing evolutionary knowledge reputation system wiki2.0 global collaboration genes proteins drugs chemicals diseases compound
Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 
MeSH Review

Dystonia

 
 
Welcome! If you are familiar with the subject of this article, you can contribute to this open access knowledge base by deleting incorrect information, restructuring or completely rewriting any text. Read more.
 

Disease relevance of Dystonia

 

Psychiatry related information on Dystonia

  • The role of the pedunculopontine and cuneiform nuclei, and related brainstem brainstem structures, in mediating motor activity and controlling muscle tone suggests that alterations in these structures could underlie the pathophysiology of DYT1 dystonia [corrected][6]
  • We have, therefore, analysed all published clinical studies of DYT1 dystonia to guide clinical decision making concerning DYT1 gene testing based on current information [7].
 

High impact information on Dystonia

  • One example is DYT1 dystonia, a neurodevelopmental disease caused by an in-frame deletion (Deltagag) in the gene encoding torsinA [8].
  • A glutamic acid deletion (DeltaE) in the AAA+ protein torsinA causes DYT1 dystonia [9].
  • DYT1 dystonia appears to be a previously uncharacterized NE disease and the first, to our knowledge, to selectively affect CNS function [10].
  • Recently, we described a point mutation in hTH (Q381K) in a family of two siblings suffering from progressive L-DOPA-responsive dystonia (DRD), representing the first reported mutation in this gene [11].
  • This study supports the notion that DYT1 dystonia is associated with impaired protein handling and the nuclear envelope [6].
 

Chemical compound and disease context of Dystonia

 

Biological context of Dystonia

 

Anatomical context of Dystonia

  • These observations demonstrate that neurons have a unique requirement for nuclear envelope localized torsinA function and suggest that loss of this activity is a key molecular event in the pathogenesis of DYT1 dystonia [8].
  • A case is reported, which is unusual in having flexor dystonia of the neck and marked signs of lower motor neuron involvement [22].
  • To explore the pathobiology of DYT1 dystonia, we generated PC12 neural cell lines that inducibly express wild-type or mutant torsinA [23].
 

Gene context of Dystonia

  • Consequently, torsinA interacts directly or indirectly with a novel class of transmembrane proteins that are localized in different subdomains of the ER system, either or both of which may play a role in the pathogenesis of DYT1 dystonia [9].
  • We describe two previously unrecognized splice site mutations of GCH1 in Dopa responsive dystonia (DRD) [24].
  • The human family of Deafness/Dystonia peptide (DDP) related mitochondrial import proteins [25].
  • One of the possibly mutated genes in DOPA-responsive dystonia (DRD, Segawa's disease) is the gene encoding GTP cyclohydrolase I, which is the rate-limiting enzyme for tetrahydrobiopterin (BH4) biosynthesis [26].
  • The hph-1 mice have defective tetrahydrobiopterin biosynthesis and share many neurochemical similarities with l-dopa-responsive dystonia (DRD) in humans [27].
  • The 3697G>A/ND1 mitochondrial DNA mutation causes the LHON and spastic dystonia phenotype in the same family [28].
 

Analytical, diagnostic and therapeutic context of Dystonia

  • These results support the potential use of viral-mediated RNAi as a therapy for DYT1 dystonia and establish the basis for preclinical testing in animal models of the disease [29].

References

  1. Effect of torsinA on membrane proteins reveals a loss of function and a dominant-negative phenotype of the dystonia-associated DeltaE-torsinA mutant. Torres, G.E., Sweeney, A.L., Beaulieu, J.M., Shashidharan, P., Caron, M.G. Proc. Natl. Acad. Sci. U.S.A. (2004) [Pubmed]
  2. Specific sequence changes in multiple transcript system DYT3 are associated with X-linked dystonia parkinsonism. Nolte, D., Niemann, S., Müller, U. Proc. Natl. Acad. Sci. U.S.A. (2003) [Pubmed]
  3. Autosomal recessive rolandic epilepsy with paroxysmal exercise-induced dystonia and writer's cramp: delineation of the syndrome and gene mapping to chromosome 16p12-11.2. Guerrini, R., Bonanni, P., Nardocci, N., Parmeggiani, L., Piccirilli, M., De Fusco, M., Aridon, P., Ballabio, A., Carrozzo, R., Casari, G. Ann. Neurol. (1999) [Pubmed]
  4. Functional brain networks in DYT1 dystonia. Eidelberg, D., Moeller, J.R., Antonini, A., Kazumata, K., Nakamura, T., Dhawan, V., Spetsieris, P., deLeon, D., Bressman, S.B., Fahn, S. Ann. Neurol. (1998) [Pubmed]
  5. Relative absence of psychopathology in benign essential blepharospasm and hemifacial spasm. Scheidt, C.E., Schuller, B., Rayki, O., Kommerell, G., Deuschl, G. Neurology (1996) [Pubmed]
  6. Brainstem pathology in DYT1 primary torsion dystonia. McNaught, K.S., Kapustin, A., Jackson, T., Jengelley, T.A., Jnobaptiste, R., Shashidharan, P., Perl, D.P., Pasik, P., Olanow, C.W. Ann. Neurol. (2004) [Pubmed]
  7. Unusual phenotypes in DYT1 dystonia: a report of five cases and a review of the literature. Edwards, M., Wood, N., Bhatia, K. Mov. Disord. (2003) [Pubmed]
  8. Loss of the dystonia-associated protein torsinA selectively disrupts the neuronal nuclear envelope. Goodchild, R.E., Kim, C.E., Dauer, W.T. Neuron (2005) [Pubmed]
  9. The AAA+ protein torsinA interacts with a conserved domain present in LAP1 and a novel ER protein. Goodchild, R.E., Dauer, W.T. J. Cell Biol. (2005) [Pubmed]
  10. Mislocalization to the nuclear envelope: an effect of the dystonia-causing torsinA mutation. Goodchild, R.E., Dauer, W.T. Proc. Natl. Acad. Sci. U.S.A. (2004) [Pubmed]
  11. Recessively inherited L-DOPA-responsive dystonia caused by a point mutation (Q381K) in the tyrosine hydroxylase gene. Knappskog, P.M., Flatmark, T., Mallet, J., Lüdecke, B., Bartholomé, K. Hum. Mol. Genet. (1995) [Pubmed]
  12. Distribution of the mRNAs encoding torsinA and torsinB in the normal adult human brain. Augood, S.J., Martin, D.M., Ozelius, L.J., Breakefield, X.O., Penney, J.B., Standaert, D.G. Ann. Neurol. (1999) [Pubmed]
  13. Levodopa-responsive dystonia. GTP cyclohydrolase I or parkin mutations? Tassin, J., Dürr, A., Bonnet, A.M., Gil, R., Vidailhet, M., Lücking, C.B., Goas, J.Y., Durif, F., Abada, M., Echenne, B., Motte, J., Lagueny, A., Lacomblez, L., Jedynak, P., Bartholomé, B., Agid, Y., Brice, A. Brain (2000) [Pubmed]
  14. SPECT imaging of the dopamine transporter in juvenile-onset dystonia. O'Sullivan, J.D., Costa, D.C., Gacinovic, S., Lees, A.J. Neurology (2001) [Pubmed]
  15. Tetrahydrobiopterin administration in biopterin-deficient progressive dystonia with diurnal variation. Fink, J.K., Ravin, P., Argoff, C.E., Levine, R.A., Brady, R.O., Hallett, M., Barton, N.W. Neurology (1989) [Pubmed]
  16. Oral phenylalanine loading in dopa-responsive dystonia: a possible diagnostic test. Hyland, K., Fryburg, J.S., Wilson, W.G., Bebin, E.M., Arnold, L.A., Gunasekera, R.S., Jacobson, R.D., Rost-Ruffner, E., Trugman, J.M. Neurology (1997) [Pubmed]
  17. Effects of genetic variations in the dystonia protein torsinA: identification of polymorphism at residue 216 as protein modifier. Kock, N., Naismith, T.V., Boston, H.E., Ozelius, L.J., Corey, D.P., Breakefield, X.O., Hanson, P.I. Hum. Mol. Genet. (2006) [Pubmed]
  18. Dopa-responsive dystonia due to a large deletion in the GTP cyclohydrolase I gene. Furukawa, Y., Guttman, M., Sparagana, S.P., Trugman, J.M., Hyland, K., Wyatt, P., Lang, A.E., Rouleau, G.A., Shimadzu, M., Kish, S.J. Ann. Neurol. (2000) [Pubmed]
  19. Behavioral effects of ketamine, an NMDA glutamatergic antagonist, in non-human primates. Shiigi, Y., Casey, D.E. Psychopharmacology (Berl.) (1999) [Pubmed]
  20. Haloperidol and reduced haloperidol-induced exacerbation of the dystonia produced by the kappa opioid U50,488H in guinea-pigs is associated with inhibition of sigma binding sites: behavioural and autoradiographical studies. Brent, P.J. Brain Res. (1995) [Pubmed]
  21. Phenotypic characterization of DYT13 primary torsion dystonia. Bentivoglio, A.R., Ialongo, T., Contarino, M.F., Valente, E.M., Albanese, A. Mov. Disord. (2004) [Pubmed]
  22. Progressive supranuclear palsy with lower motor neuron involvement. A case report. Sieradzan, K., Kwieciński, H., Sawicka, E. J. Neurol. (1987) [Pubmed]
  23. Aberrant cellular behavior of mutant torsinA implicates nuclear envelope dysfunction in DYT1 dystonia. Gonzalez-Alegre, P., Paulson, H.L. J. Neurosci. (2004) [Pubmed]
  24. Two previously unrecognized splicing mutations of GCH1 in Dopa-responsive dystonia: exon skipping and one base insertion. Weber, Y., Steinberger, D., Deuschl, G., Benecke, R., Müller, U. Neurogenetics (1997) [Pubmed]
  25. The human family of Deafness/Dystonia peptide (DDP) related mitochondrial import proteins. Jin, H., Kendall, E., Freeman, T.C., Roberts, R.G., Vetrie, D.L. Genomics (1999) [Pubmed]
  26. Genetically rescued tetrahydrobiopterin-depleted mice survive with hyperphenylalaninemia and region-specific monoaminergic abnormalities. Sumi-Ichinose, C., Urano, F., Shimomura, A., Sato, T., Ikemoto, K., Shiraishi, H., Senda, T., Ichinose, H., Nomura, T. J. Neurochem. (2005) [Pubmed]
  27. Alterations in expression of dopamine receptors and neuropeptides in the striatum of GTP cyclohydrolase-deficient mice. Zeng, B.Y., Heales, S.J., Canevari, L., Rose, S., Jenner, P. Exp. Neurol. (2004) [Pubmed]
  28. A MELAS-associated ND1 mutation causing leber hereditary optic neuropathy and spastic dystonia. Spruijt, L., Smeets, H.J., Hendrickx, A., Bettink-Remeijer, M.W., Maat-Kievit, A., Schoonderwoerd, K.C., Sluiter, W., de Coo, I.F., Hintzen, R.Q. Arch. Neurol. (2007) [Pubmed]
  29. Silencing primary dystonia: lentiviral-mediated RNA interference therapy for DYT1 dystonia. Gonzalez-Alegre, P., Bode, N., Davidson, B.L., Paulson, H.L. J. Neurosci. (2005) [Pubmed]
 
WikiGenes - Universities