Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)

Editor

Personal info

View

About

Terms

Javascript disabled

Please enable Javascript support in your browser to use this application.

Instructions on how to enable JavaScript on different browsers can be found here: http://www.google.com/support/bin/answer.py?answer=23852.

[edit this page]

MeSH Review:

Dystonia Musculorum Deformans

Hutchinson, M. et al., Playford, E.D. et al., Conway, D. et al., Drory, V.E. et al., Eidelberg, D. et al., et al.

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 Musculorum Deformans

The authors have used 18F-fluorodeoxyglucose (FDG) and PET with network analysis to identify distinctive patterns of regional metabolic abnormality associated with idiopathic torsion dystonia (ITD), as well as sleep induction during PET imaging to suppress involuntary movements, thereby reducing this potential confound in the analysis [1].

High impact information on Dystonia Musculorum Deformans

The DYT1 locus on chromosome 9q34 is responsible for most childhood limb-onset idiopathic torsion dystonia (ITD) [2].
We used [18F]fluorodeoxyglucose (FDG) and PET with a statistical model of regional metabolic covariation to study brain topographic organization in idiopathic torsion dystonia (ITD) [3].
A tremor indistinguishable from ET may be observed in patients with autosomal dominant idiopathic torsion dystonia (ITD), in which the disease locus has been mapped to 9q32-34 in some kindreds, tightly linked to the argininosuccinate synthetase (ASS) locus [4].
We report the clinical and electromyographic findings of two patients with idiopathic torsion dystonia (ITD), with frequent flexion postures of the wrists, in both of whom typical CTS developed in the more involved hand [5].
Five female patients with idiopathic torsion dystonia (ITD) responded to treatment with tiapride, a selective D-2 dopamine antagonist [6].

Chemical compound and disease context of Dystonia Musculorum Deformans

In an effort to explore possible changes in 5-hydroxytryptamine (5-HT) metabolism in idiopathic torsion dystonia (ITD), platelets from patients were studied [7].

Biological context of Dystonia Musculorum Deformans

Clinical-genetic studies of idiopathic torsion dystonia (ITD) indicate that the DYT1 gene on chromosome 9q34 is responsible for most childhood limb-onset disease [8].
Mutations in the DYT1 gene cause idiopathic torsion dystonia (ITD) transmitted in families as an autosomal dominant trait with incomplete penetrance [9].

Gene context of Dystonia Musculorum Deformans

Dopamine-beta-hydroxylase (DBH) in idiopathic torsion dystonia (ITD) [10].

Analytical, diagnostic and therapeutic context of Dystonia Musculorum Deformans

Most positron emission tomography (PET) studies of regional cerebral function in idiopathic torsion dystonia (ITD) have failed to show abnormalities, but there have been few studies of the changes in regional cerebral blood flow (rCBF) that occur during movement in dystonia [11].

References

The metabolic topography of essential blepharospasm: a focal dystonia with general implications. Hutchinson, M., Nakamura, T., Moeller, J.R., Antonini, A., Belakhlef, A., Dhawan, V., Eidelberg, D. Neurology (2000) [Pubmed]
Idiopathic torsion dystonia linked to chromosome 8 in two Mennonite families. Almasy, L., Bressman, S.B., Raymond, D., Kramer, P.L., Greene, P.E., Heiman, G.A., Ford, B., Yount, J., de Leon, D., Chouinard, S., Saunders-Pullman, R., Brin, M.F., Kapoor, R.P., Jones, A.C., Shen, H., Fahn, S., Risch, N.J., Nygaard, T.G. Ann. Neurol. (1997) [Pubmed]
The metabolic topography of idiopathic torsion dystonia. Eidelberg, D., Moeller, J.R., Ishikawa, T., Dhawan, V., Spetsieris, P., Przedborski, S., Fahn, S. Brain (1995) [Pubmed]
Linkage analysis with chromosome 9 markers in hereditary essential tremor. Conway, D., Bain, P.G., Warner, T.T., Davis, M.B., Findley, L.J., Thompson, P.D., Marsden, C.D., Harding, A.E. Mov. Disord. (1993) [Pubmed]
Carpal tunnel syndrome: a complication of idiopathic torsion dystonia. Drory, V.E., Neufeld, M.Y., Korczyn, A.D. Mov. Disord. (1991) [Pubmed]
Tiapride as treatment for certain patients with idiopathic torsion dystonia. Arlazoroff, A., Klein, C., Meiner, Z., Milo, R., Theitler, J., Carpel, C.L. Eur. Neurol. (1991) [Pubmed]
5-Hydroxytryptamine in platelets of torsion dystonia patients. Korczyn, A.D., Lazarovits, J., Dvilanski, A., Eshel, Y., Nathan, I. Acta neurologica Scandinavica. (1985) [Pubmed]
Exclusion of the DYT1 locus in familial torticollis. Bressman, S.B., Warner, T.T., Almasy, L., Uitti, R.J., Greene, P.E., Heiman, G.A., Raymond, D., Ford, B., de Leon, D., Fahn, S., Kramer, P.L., Risch, N.J., Maraganore, D.M., Nygaard, T.G., Harding, A.E. Ann. Neurol. (1996) [Pubmed]
Unique origin and low penetrance of the 946delGAG mutation in Valencian DYT1 families. Carmona, J., Burguera, J.A., Mollà, B., Mulas, F., Smeyers, P., Carratalà, F., De Yebenes, J.G., Hoenicka, J., Palau, F. Clin. Genet. (2003) [Pubmed]
Dopamine-beta-hydroxylase (DBH) in idiopathic torsion dystonia (ITD). Korczyn, A.D., Rabinowitz, R., Kahana, E., Streifler, M., Carasso, R., Alter, M. J. Neurol. Sci. (1982) [Pubmed]
Increased activation of frontal areas during arm movement in idiopathic torsion dystonia. Playford, E.D., Passingham, R.E., Marsden, C.D., Brooks, D.J. Mov. Disord. (1998) [Pubmed]

Contributions to this collaborative article are from individual authors of WikiGenes or mined by the WikiGenes Data Mining Engine from MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine.About WikiGenes Open Access Licence Privacy Policy Terms of Use apsburg

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.