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

Movement Disorders

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Disease relevance of Movement Disorders


Psychiatry related information on Movement Disorders


High impact information on Movement Disorders


Chemical compound and disease context of Movement Disorders


Biological context of Movement Disorders

  • Myoclonus-dystonia (M-D) is a movement disorder characterized by rapid muscle contractions and sustained twisting and repetitive movements and has recently been associated with mutations in the epsilon-sarcoglycan gene (SGCE) [20].
  • No mutations were found in exons of GCH1 and SPG3A, two genes from the candidate region involved in movement disorders [21].
  • CONCLUSIONS: The movement disorder in AADC deficiency, particularly the characteristic eye movement abnormalities, should facilitate the identification of patients with this rare but possibly underrecognized disorder [22].
  • In addition to the potential clinical benefit of improving decarboxylation efficiency in Parkinson's disease, our approach may be relevant for the treatment of AADC deficiency, a rare, autosomal recessive disorder causing a severe movement disorder and progressive cognitive impairment [23].
  • BACKGROUND: Paroxysmal dystonic choreoathetosis (PDC) is a rare familial movement disorder that has been mapped to chromosome 2q31-36 [24].

Anatomical context of Movement Disorders


Gene context of Movement Disorders


Analytical, diagnostic and therapeutic context of Movement Disorders


  1. The clinical syndrome of striatal dopamine deficiency. Parkinsonism induced by 1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine (MPTP). Burns, R.S., LeWitt, P.A., Ebert, M.H., Pakkenberg, H., Kopin, I.J. N. Engl. J. Med. (1985) [Pubmed]
  2. The early-onset torsion dystonia gene (DYT1) encodes an ATP-binding protein. Ozelius, L.J., Hewett, J.W., Page, C.E., Bressman, S.B., Kramer, P.L., Shalish, C., de Leon, D., Brin, M.F., Raymond, D., Corey, D.P., Fahn, S., Risch, N.J., Buckler, A.J., Gusella, J.F., Breakefield, X.O. Nat. Genet. (1997) [Pubmed]
  3. Calcium-sensitive potassium channelopathy in human epilepsy and paroxysmal movement disorder. Du, W., Bautista, J.F., Yang, H., Diez-Sampedro, A., You, S.A., Wang, L., Kotagal, P., Lüders, H.O., Shi, J., Cui, J., Richerson, G.B., Wang, Q.K. Nat. Genet. (2005) [Pubmed]
  4. Mutations in the Na+/K+ -ATPase alpha3 gene ATP1A3 are associated with rapid-onset dystonia parkinsonism. de Carvalho Aguiar, P., Sweadner, K.J., Penniston, J.T., Zaremba, J., Liu, L., Caton, M., Linazasoro, G., Borg, M., Tijssen, M.A., Bressman, S.B., Dobyns, W.B., Brashear, A., Ozelius, L.J. Neuron (2004) [Pubmed]
  5. Amphetamine-induced dopaminergic hypersensitivity in guinea pigs. Implications in psychosis and human movement disorders. Klawans, H.L., Margolin, D.I. Arch. Gen. Psychiatry (1975) [Pubmed]
  6. Cloning and expression of a rat D2 dopamine receptor cDNA. Bunzow, J.R., Van Tol, H.H., Grandy, D.K., Albert, P., Salon, J., Christie, M., Machida, C.A., Neve, K.A., Civelli, O. Nature (1988) [Pubmed]
  7. The elicitation of a movement disorder by trazodone: case report. Demuth, G.W., Breslow, R.E., Drescher, J. The Journal of clinical psychiatry. (1985) [Pubmed]
  8. Reduced Purkinje cell density in Huntington's disease. Jeste, D.V., Barban, L., Parisi, J. Exp. Neurol. (1984) [Pubmed]
  9. Perceptual-motor skill learning in Gilles de la Tourette syndrome. Evidence for multiple procedural learning and memory systems. Marsh, R., Alexander, G.M., Packard, M.G., Zhu, H., Peterson, B.S. Neuropsychologia. (2005) [Pubmed]
  10. Diagnosis of childhood seizure disorders. Murphy, J.V., Dehkharghani, F. Epilepsia (1994) [Pubmed]
  11. Mapping of a familial essential tremor gene, FET1, to chromosome 3q13. Gulcher, J.R., Jónsson, P., Kong, A., Kristjánsson, K., Frigge, M.L., Kárason, A., Einarsdóttir, I.E., Stefánsson, H., Einarsdóttir, A.S., Sigurthoardóttir, S., Baldursson, S., Björnsdóttir, S., Hrafnkelsdóttir, S.M., Jakobsson, F., Benedickz, J., Stefánsson, K. Nat. Genet. (1997) [Pubmed]
  12. L-tryptophan in drug-induced movement disorders with insomnia. Sandyk, R., Consroe, P.F., Iacono, R.P. N. Engl. J. Med. (1986) [Pubmed]
  13. Dyskinesias evoked in monkeys by weekly administration of haloperidol. Weiss, B., Santelli, S. Science (1978) [Pubmed]
  14. Levodopa aids certain movement disorders. González, E.R. JAMA (1981) [Pubmed]
  15. Transgenic mouse model of early-onset DYT1 dystonia. Shashidharan, P., Sandu, D., Potla, U., Armata, I.A., Walker, R.H., McNaught, K.S., Weisz, D., Sreenath, T., Brin, M.F., Olanow, C.W. Hum. Mol. Genet. (2005) [Pubmed]
  16. Chronic neuroleptic treatment: D2 dopamine receptor supersensitivity and striatal glutamatergic transmission. Calabresi, P., De Murtas, M., Mercuri, N.B., Bernardi, G. Ann. Neurol. (1992) [Pubmed]
  17. Striatal dopamine, dopamine transporter, and vesicular monoamine transporter in chronic cocaine users. Wilson, J.M., Levey, A.I., Bergeron, C., Kalasinsky, K., Ang, L., Peretti, F., Adams, V.I., Smialek, J., Anderson, W.R., Shannak, K., Deck, J., Niznik, H.B., Kish, S.J. Ann. Neurol. (1996) [Pubmed]
  18. Metoclopramide-induced movement disorders. Clinical findings with a review of the literature. Miller, L.G., Jankovic, J. Arch. Intern. Med. (1989) [Pubmed]
  19. Reversal of tricyclic-overdosage-induced central anticholinergic syndrome by physostigmine. Holinger, P.C., Klawans, H.L. The American journal of psychiatry. (1976) [Pubmed]
  20. Evidence that paternal expression of the epsilon-sarcoglycan gene accounts for reduced penetrance in myoclonus-dystonia. Müller, B., Hedrich, K., Kock, N., Dragasevic, N., Svetel, M., Garrels, J., Landt, O., Nitschke, M., Pramstaller, P.P., Reik, W., Schwinger, E., Sperner, J., Ozelius, L., Kostic, V., Klein, C. Am. J. Hum. Genet. (2002) [Pubmed]
  21. Mapping of a new form of pure autosomal recessive spastic paraplegia (SPG28). Bouslam, N., Benomar, A., Azzedine, H., Bouhouche, A., Namekawa, M., Klebe, S., Charon, C., Durr, A., Ruberg, M., Brice, A., Yahyaoui, M., Stevanin, G. Ann. Neurol. (2005) [Pubmed]
  22. Clinical and therapeutic observations in aromatic L-amino acid decarboxylase deficiency. Swoboda, K.J., Hyland, K., Goldstein, D.S., Kuban, K.C., Arnold, L.A., Holmes, C.S., Levy, H.L. Neurology (1999) [Pubmed]
  23. Functional effect of adeno-associated virus mediated gene transfer of aromatic L-amino acid decarboxylase into the striatum of 6-OHDA-lesioned rats. Sánchez-Pernaute, R., Harvey-White, J., Cunningham, J., Bankiewicz, K.S. Mol. Ther. (2001) [Pubmed]
  24. Familial paroxysmal dystonic choreoathetosis: clinical findings in a large Japanese family and genetic linkage to 2q. Matsuo, H., Kamakura, K., Saito, M., Okano, M., Nagase, T., Tadano, Y., Kaida, K., Hirata, A., Miyamoto, N., Masaki, T., Nakamura, R., Motoyoshi, K., Tanaka, H., Tsuji, S. Arch. Neurol. (1999) [Pubmed]
  25. Postural asymmetry and movement disorder after unilateral microinjection of adrenocorticotropin 1-24 in rat brainstem. Jacquet, Y.F., Abrams, G.M. Science (1982) [Pubmed]
  26. TorsinA: movement at many levels. Breakefield, X.O., Kamm, C., Hanson, P.I. Neuron (2001) [Pubmed]
  27. Mitochondria and dystonia: the movement disorder connection? Wallace, D.C., Murdock, D.G. Proc. Natl. Acad. Sci. U.S.A. (1999) [Pubmed]
  28. Ubiquitin-positive CA2/3 neurites in hippocampus coexist with cortical Lewy bodies. Kim, H., Gearing, M., Mirra, S.S. Neurology (1995) [Pubmed]
  29. Beta-synuclein inhibits formation of alpha-synuclein protofibrils: a possible therapeutic strategy against Parkinson's disease. Park, J.Y., Lansbury, P.T. Biochemistry (2003) [Pubmed]
  30. Delineation of the dystonia-parkinsonism syndrome locus in Xq13. Graeber, M.B., Kupke, K.G., Müller, U. Proc. Natl. Acad. Sci. U.S.A. (1992) [Pubmed]
  31. Molecular and pathological effects of a modifier gene on deficiency of the sodium channel Scn8a (Na(v)1.6). Kearney, J.A., Buchner, D.A., De Haan, G., Adamska, M., Levin, S.I., Furay, A.R., Albin, R.L., Jones, J.M., Montal, M., Stevens, M.J., Sprunger, L.K., Meisler, M.H. Hum. Mol. Genet. (2002) [Pubmed]
  32. The early onset dystonia protein torsinA interacts with kinesin light chain 1. Kamm, C., Boston, H., Hewett, J., Wilbur, J., Corey, D.P., Hanson, P.I., Ramesh, V., Breakefield, X.O. J. Biol. Chem. (2004) [Pubmed]
  33. Patients with features similar to Huntington's disease, without CAG expansion in huntingtin. Rosenblatt, A., Ranen, N.G., Rubinsztein, D.C., Stine, O.C., Margolis, R.L., Wagster, M.V., Becher, M.W., Rosser, A.E., Leggo, J., Hodges, J.R., ffrench-Constant, C.K., Sherr, M., Franz, M.L., Abbott, M.H., Ross, C.A. Neurology (1998) [Pubmed]
  34. Screen for expanded FMR1 alleles in patients with essential tremor. Garcia Arocena, D., Louis, E.D., Tassone, F., Gilliam, T.C., Ottman, R., Jacquemont, S., Hagerman, P.J. Mov. Disord. (2004) [Pubmed]
  35. Pathology of idiopathic dystonia: findings from genetic animal models. Richter, A., Löscher, W. Prog. Neurobiol. (1998) [Pubmed]
  36. Tolerability of ziprasidone: an expanding perspective. Daniel, D.G. The Journal of clinical psychiatry. (2003) [Pubmed]
  37. Haloperidol-induced tardive dyskinesia in a child with Gilles de la Tourette's disease. Mizrahi, E.M., Holtzman, D., Tharp, B. Arch. Neurol. (1980) [Pubmed]
  38. Loss of dopamine-D2 receptor binding sites in Parkinsonian plus syndromes. Hierholzer, J., Cordes, M., Venz, S., Schelosky, L., Harisch, C., Richter, W., Keske, U., Hosten, N., Mäurer, J., Poewe, W., Felix, R. J. Nucl. Med. (1998) [Pubmed]
  39. Quantitative light microscopic demonstration of increased pallidal and striatal met5-enkephalin-like immunoreactivity in rats following chronic treatment with haloperidol but not with clozapine: implications for the pathogenesis of neuroleptic-induced movement disorders. Auchus, A.P., Pickel, V.M. Exp. Neurol. (1992) [Pubmed]
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