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MeSH Review

Choreatic Disorders

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Disease relevance of Choreatic Disorders


Psychiatry related information on Choreatic Disorders


High impact information on Choreatic Disorders

  • 46% of sera from 30 children with rheumatic chorea showed IgG antibody reacting with neuronal cytoplasm of human caudate and subthalamic nuclei [9].
  • Ataxia and paroxysmal dyskinesia in mice lacking axonally transported FGF14 [10].
  • Our observations are in accordance with the occurrence of ataxia and paroxysmal dyskinesia in Fgf14-knockout mice [11].
  • BFIC appears to be frequently associated with paroxysmal dyskinesias, because many additional families from diverse ethnic backgrounds have similar syndromes that have been linked to the chromosome 16 ICCA region [12].
  • 1. The PKCR overlaps with a region responsible for "infantile convulsions and paroxysmal choreoathetosis" (MIM 602066), a recently recognized clinical entity with benign infantile convulsions and nonkinesigenic paroxysmal dyskinesias [1].

Chemical compound and disease context of Choreatic Disorders


Biological context of Choreatic Disorders


Anatomical context of Choreatic Disorders

  • In patients with neuroacanthocytosis, mean equilibrium caudate: cerebellum and putamen: cerebellum [11C]raclopride uptake ratios were reduced to 54% and 62% of normal, compatible with a 65% and 53% loss of caudate and putamen D2-receptor-binding sites, respectively [20].

Gene context of Choreatic Disorders


Analytical, diagnostic and therapeutic context of Choreatic Disorders


  1. Paroxysmal kinesigenic choreoathetosis locus maps to chromosome 16p11.2-q12.1. 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. Am. J. Hum. Genet. (1999) [Pubmed]
  2. Mutations in TITF-1 are associated with benign hereditary chorea. Breedveld, G.J., van Dongen, J.W., Danesino, C., Guala, A., Percy, A.K., Dure, L.S., Harper, P., Lazarou, L.P., van der Linde, H., Joosse, M., Grüters, A., MacDonald, M.E., de Vries, B.B., Arts, W.F., Oostra, B.A., Krude, H., Heutink, P. Hum. Mol. Genet. (2002) [Pubmed]
  3. Treatment of Sydenham chorea with corticosteroids. Cardoso, F., Maia, D., Cunningham, M.C., Valença, G. Mov. Disord. (2003) [Pubmed]
  4. Inherited movement disorders. Sharma, N., Standaert, D.G. Neurologic clinics. (2002) [Pubmed]
  5. Rocker is a new variant of the voltage-dependent calcium channel gene Cacna1a. Zwingman, T.A., Neumann, P.E., Noebels, J.L., Herrup, K. J. Neurosci. (2001) [Pubmed]
  6. A worldwide study of the Huntington's disease mutation. The sensitivity and specificity of measuring CAG repeats. Kremer, B., Goldberg, P., Andrew, S.E., Theilmann, J., Telenius, H., Zeisler, J., Squitieri, F., Lin, B., Bassett, A., Almqvist, E. N. Engl. J. Med. (1994) [Pubmed]
  7. Normal CAG repeat length in the Huntington's disease gene in senile chorea. Shinotoh, H., Calne, D.B., Snow, B., Hayward, M., Kremer, B., Theilmann, J., Hayden, M.R. Neurology (1994) [Pubmed]
  8. Benign hereditary chorea improved on stimulant therapy. Friederich, R.L. Pediatric neurology. (1996) [Pubmed]
  9. Antibodies reacting with cytoplasm of subthalamic and caudate nuclei neurons in chorea and acute rheumatic fever. Husby, G., van de Rijn, I., Zabriskie, J.B., Abdin, Z.H., Williams, R.C. J. Exp. Med. (1976) [Pubmed]
  10. Ataxia and paroxysmal dyskinesia in mice lacking axonally transported FGF14. Wang, Q., Bardgett, M.E., Wong, M., Wozniak, D.F., Lou, J., McNeil, B.D., Chen, C., Nardi, A., Reid, D.C., Yamada, K., Ornitz, D.M. Neuron (2002) [Pubmed]
  11. A mutation in the fibroblast growth factor 14 gene is associated with autosomal dominant cerebellar ataxia [corrected]. van Swieten, J.C., Brusse, E., de Graaf, B.M., Krieger, E., van de Graaf, R., de Koning, I., Maat-Kievit, A., Leegwater, P., Dooijes, D., Oostra, B.A., Heutink, P. Am. J. Hum. Genet. (2003) [Pubmed]
  12. Linkage of benign familial infantile convulsions to chromosome 16p12-q12 suggests allelism to the infantile convulsions and choreoathetosis syndrome. Caraballo, R., Pavek, S., Lemainque, A., Gastaldi, M., Echenne, B., Motte, J., Genton, P., Cersósimo, R., Humbertclaude, V., Fejerman, N., Monaco, A.P., Lathrop, M.G., Rochette, J., Szepetowski, P. Am. J. Hum. Genet. (2001) [Pubmed]
  13. Regional brain glucose metabolism in neuroacanthocytosis. Dubinsky, R.M., Hallett, M., Levey, R., Di Chiro, G. Neurology (1989) [Pubmed]
  14. Clozapine treatment of persistent paroxysmal dyskinesia associated with concomitant paroxetine and sumatriptan use. Abraham, J.T., Brown, R., Meltzer, H.Y. Biol. Psychiatry (1997) [Pubmed]
  15. Paroxysmal dystonic choreoathetosis linked to chromosome 2q: clinical analysis and proposed pathophysiology. Fink, J.K., Hedera, P., Mathay, J.G., Albin, R.L. Neurology (1997) [Pubmed]
  16. Haloperidol for nonkinesiogenic paroxysmal dyskinesia. Coulter, D.L., Donofrio, P. Arch. Neurol. (1980) [Pubmed]
  17. Striatal increase of extracellular dopamine levels during dystonic episodes in a genetic model of paroxysmal dyskinesia. Hamann, M., Richter, A. Neurobiol. Dis. (2004) [Pubmed]
  18. A gene for familial paroxysmal dyskinesia (FPD1) maps to chromosome 2q. Fouad, G.T., Servidei, S., Durcan, S., Bertini, E., Ptácek, L.J. Am. J. Hum. Genet. (1996) [Pubmed]
  19. Eye movements in chorea-acanthocytosis. Gradstein, L., Danek, A., Grafman, J., Fitzgibbon, E.J. Invest. Ophthalmol. Vis. Sci. (2005) [Pubmed]
  20. Presynaptic and postsynaptic striatal dopaminergic function in neuroacanthocytosis: a positron emission tomographic study. Brooks, D.J., Ibanez, V., Playford, E.D., Sawle, G.V., Leigh, P.N., Kocen, R.S., Harding, A.E., Marsden, C.D. Ann. Neurol. (1991) [Pubmed]
  21. New human sodium/glucose cotransporter gene (KST1): identification, characterization, and mutation analysis in ICCA (infantile convulsions and choreoathetosis) and BFIC (benign familial infantile convulsions) families. Roll, P., Massacrier, A., Pereira, S., Robaglia-Schlupp, A., Cau, P., Szepetowski, P. Gene (2002) [Pubmed]
  22. Secondary paroxysmal dyskinesias. Blakeley, J., Jankovic, J. Mov. Disord. (2002) [Pubmed]
  23. The NMDA receptor NR2B subtype selective antagonist Ro 25-6981 aggravates paroxysmal dyskinesia in the dt(sz) mutant. Richter, A. Eur. J. Pharmacol. (2003) [Pubmed]
  24. entla, a novel epileptic and ataxic Cacna2d2 mutant of the mouse. Brill, J., Klocke, R., Paul, D., Boison, D., Gouder, N., Klugbauer, N., Hofmann, F., Becker, C.M., Becker, K. J. Biol. Chem. (2004) [Pubmed]
  25. Epilepsy and paroxysmal dyskinesia: co-occurrence and differential diagnosis. Guerrini, R., Parmeggiani, L., Casari, G. Advances in neurology. (2002) [Pubmed]
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