By Petr Kanovsky, Kailash P. Bhatia, Raymond L. Rosales
The present notion of dystonic circulate connects the irregular functionality of somatosensory pathways and somatosensory analyzers with the dystonic functionality of motor motion, that's in response to the abnormality of sensorimotor integration. this idea is mirrored not just in idiopathic dystonia, but in addition in secondary and symptomatic dystonias. This ebook will supply a accomplished account of the heritage of the phrases dystonia and dystonic, the body structure of dystonic circulate and the genetics and scientific visual appeal of fundamental and secondary dystonias. taking into account most recent learn findings, Dystonia and Dystonic Syndromes deals an in-depth dialogue of present remedies on hand for dystonia, together with pharmacotherapy, surgical procedure and neurorehabilitation. accordingly, it serves as a useful reference for practitioners within the fields of neurology, neurosurgery, psychiatry and neuroradiology in addition to for neuroscientists.
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Additional resources for Dystonia and Dystonic Syndromes
Paroxysmal exercise-induced dyskinesia and epilepsy is due to mutations in SLC2A1, encoding the glucose transporter GLUT1. Brain. 2008;131(Pt 7):1831–44. 20. Weber YG, Kamm C, Suls A, Kempfle J, Kotschet K, Schule R, Wuttke TV, Maljevic S, Liebrich J, Gasser T, Ludolph AC, Van Paesschen W, Schols L, De Jonghe P, Auburger G, Lerche H. Paroxysmal choreoathetosis/spasticity (DYT9) is caused by a GLUT1 defect. Neurology. 2011;77(10):959–64. 21. Tomita H, Nagamitsu S, Wakui K, Fukushima Y, Yamada K, Sadamatsu M, Masui A, Konishi T, Matsuishi T, Aihara M, Shimizu K, Hashimoto K, Mineta M, Matsushima M, Tsujita T, Saito M, Tanaka H, Tsuji S, Takagi T, Nakamura Y, Nanko S, Kato N, Nakane Y, Niikawa N.
No phenotype-genotype correlation could be drawn with respect to different mutations, and, moreover, phenotypes varied within single families. GNAL encodes the stimulatory α-subunit, Gαolf, first identified as a guanine nucleotide-binding protein (G protein) that mediates odorant signaling in the olfactory epithelium . G proteins are heterodimers that consist of α-, β-, and γ-subunits and usually serve as a molecular link between transmembrane receptor and downstream effector molecules. Heterodimer containing Gαolf associates with dopamine type 1 receptors, and GNAL mutations significantly impair the ability of Gαolf to couple with β- and γ-subunits.
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