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Disease relevance of Apraxias


Psychiatry related information on Apraxias


High impact information on Apraxias

  • We have now identified causative mutations in 15 families, which allows us to clinically define this entity by onset between 10 and 22 years, cerebellar atrophy, axonal sensorimotor neuropathy, oculomotor apraxia and elevated alpha-fetoprotein (AFP) [11].
  • Senataxin, the ortholog of a yeast RNA helicase, is mutant in ataxia-ocular apraxia 2 [11].
  • Nephronophthisis can also be associated with conditions affecting extrarenal organs, such as retinitis pigmentosa (Senior-Løken syndrome) and ocular motor apraxia (Cogan syndrome) [12].
  • The gene mutated in ataxia-ocular apraxia 1 encodes the new HIT/Zn-finger protein aprataxin [13].
  • Here, we report investigations of the entire coding region of FOXP2, including alternatively spliced exons, in 49 probands affected with verbal dyspraxia [14].

Chemical compound and disease context of Apraxias

  • Visuomotor apraxia has traditionally been assumed to result from a disconnection of cortico-cortical fibres between visual and motor areas following occipito-parietal lesions [15].
  • Seven patients, presenting CSWS associated with neuropsychological deterioration (isolated aphasia, three cases; language disturbances with more widespread cognitive deterioration, three cases; isolated apraxia, one case) were studied using PET with [18F]fluorodeoxyglucose (FDG) [16].
  • Isolated eyelid-opening apraxia: report of a new levodopa-responsive syndrome [17].
  • Using each cut-off score, the regional cerebral glucose metabolism of patients with CBD with apraxia (i.e., performing below cut-off score) was compared with that of patients with CBD without apraxia [18].
  • Reported is a 19-year-old manic-depressive patient who developed persistent dysarthria with coexisting apraxia while on a combination of high dose haloperidol and lithium carbonate [19].

Biological context of Apraxias


Anatomical context of Apraxias


Gene context of Apraxias


Analytical, diagnostic and therapeutic context of Apraxias


  1. Mutations in a novel gene, NPHP3, cause adolescent nephronophthisis, tapeto-retinal degeneration and hepatic fibrosis. Olbrich, H., Fliegauf, M., Hoefele, J., Kispert, A., Otto, E., Volz, A., Wolf, M.T., Sasmaz, G., Trauer, U., Reinhardt, R., Sudbrak, R., Antignac, C., Gretz, N., Walz, G., Schermer, B., Benzing, T., Hildebrandt, F., Omran, H. Nat. Genet. (2003) [Pubmed]
  2. Autosomal recessive cerebellar ataxia with oculomotor apraxia (ataxia-telangiectasia-like syndrome) is linked to chromosome 9q34. Németh, A.H., Bochukova, E., Dunne, E., Huson, S.M., Elston, J., Hannan, M.A., Jackson, M., Chapman, C.J., Taylor, A.M. Am. J. Hum. Genet. (2000) [Pubmed]
  3. Mutations in senataxin responsible for Quebec cluster of ataxia with neuropathy. Duquette, A., Roddier, K., McNabb-Baltar, J., Gosselin, I., St-Denis, A., Dicaire, M.J., Loisel, L., Labuda, D., Marchand, L., Mathieu, J., Bouchard, J.P., Brais, B. Ann. Neurol. (2005) [Pubmed]
  4. Aprataxin, the causative protein for EAOH is a nuclear protein with a potential role as a DNA repair protein. Sano, Y., Date, H., Igarashi, S., Onodera, O., Oyake, M., Takahashi, T., Hayashi, S., Morimatsu, M., Takahashi, H., Makifuchi, T., Fukuhara, N., Tsuji, S. Ann. Neurol. (2004) [Pubmed]
  5. Cortical degeneration in progressive supranuclear palsy. A comparison with cortical-basal ganglionic degeneration. Bergeron, C., Pollanen, M.S., Weyer, L., Lang, A.E. J. Neuropathol. Exp. Neurol. (1997) [Pubmed]
  6. Tacrolimus-associated mutism after orthotopic liver transplantation. Bronster, D.J., Gurkan, A., Buchsbaum, M.S., Emre, S. Transplantation (2000) [Pubmed]
  7. Familial Alzheimer Dementia: a prevalent disorder with specific clinical features. Breitner, J.C., Folstein, M.F. Psychological medicine. (1984) [Pubmed]
  8. Long-chain polyunsaturated fatty acids in childhood developmental and psychiatric disorders. Richardson, A.J. Lipids (2004) [Pubmed]
  9. Conceptual apraxia in probable Alzheimer's disease as demonstrated by the Florida Action Recall Test. Schwartz, R.L., Adair, J.C., Raymer, A.M., Williamson, D.J., Crosson, B., Rothi, L.J., Nadeau, S.E., Heilman, K.M. Journal of the International Neuropsychological Society : JINS. (2000) [Pubmed]
  10. Maintenance treatment outcomes in older patients with bipolar I disorder. Sajatovic, M., Gyulai, L., Calabrese, J.R., Thompson, T.R., Wilson, B.G., White, R., Evoniuk, G. The American journal of geriatric psychiatry : official journal of the American Association for Geriatric Psychiatry. (2005) [Pubmed]
  11. Senataxin, the ortholog of a yeast RNA helicase, is mutant in ataxia-ocular apraxia 2. Moreira, M.C., Klur, S., Watanabe, M., Németh, A.H., Le Ber, I., Moniz, J.C., Tranchant, C., Aubourg, P., Tazir, M., Schöls, L., Pandolfo, M., Schulz, J.B., Pouget, J., Calvas, P., Shizuka-Ikeda, M., Shoji, M., Tanaka, M., Izatt, L., Shaw, C.E., M'Zahem, A., Dunne, E., Bomont, P., Benhassine, T., Bouslam, N., Stevanin, G., Brice, A., Guimarães, J., Mendonça, P., Barbot, C., Coutinho, P., Sequeiros, J., Dürr, A., Warter, J.M., Koenig, M. Nat. Genet. (2004) [Pubmed]
  12. The gene mutated in juvenile nephronophthisis type 4 encodes a novel protein that interacts with nephrocystin. Mollet, G., Salomon, R., Gribouval, O., Silbermann, F., Bacq, D., Landthaler, G., Milford, D., Nayir, A., Rizzoni, G., Antignac, C., Saunier, S. Nat. Genet. (2002) [Pubmed]
  13. The gene mutated in ataxia-ocular apraxia 1 encodes the new HIT/Zn-finger protein aprataxin. Moreira, M.C., Barbot, C., Tachi, N., Kozuka, N., Uchida, E., Gibson, T., Mendonça, P., Costa, M., Barros, J., Yanagisawa, T., Watanabe, M., Ikeda, Y., Aoki, M., Nagata, T., Coutinho, P., Sequeiros, J., Koenig, M. Nat. Genet. (2001) [Pubmed]
  14. Identification of FOXP2 truncation as a novel cause of developmental speech and language deficits. MacDermot, K.D., Bonora, E., Sykes, N., Coupe, A.M., Lai, C.S., Vernes, S.C., Vargha-Khadem, F., McKenzie, F., Smith, R.L., Monaco, A.P., Fisher, S.E. Am. J. Hum. Genet. (2005) [Pubmed]
  15. Subcortical origin of visuomotor apraxia. Classen, J., Kunesch, E., Binkofski, F., Hilperath, F., Schlaug, G., Seitz, R.J., Glickstein, M., Freund, H.J. Brain (1995) [Pubmed]
  16. Regional cerebral glucose metabolism in children with deterioration of one or more cognitive functions and continuous spike-and-wave discharges during sleep. Maquet, P., Hirsch, E., Metz-Lutz, M.N., Motte, J., Dive, D., Marescaux, C., Franck, G. Brain (1995) [Pubmed]
  17. Isolated eyelid-opening apraxia: report of a new levodopa-responsive syndrome. Dewey, R.B., Maraganore, D.M. Neurology (1994) [Pubmed]
  18. Neural and cognitive bases of upper limb apraxia in corticobasal degeneration. Peigneux, P., Salmon, E., Garraux, G., Laureys, S., Willems, S., Dujardin, K., Degueldre, C., Lemaire, C., Luxen, A., Moonen, G., Franck, G., Destee, A., Van der Linden, M. Neurology (2001) [Pubmed]
  19. Persistent dysarthria with apraxia associated with a combination of lithium carbonate and haloperidol. Bond, W.S., Carvalho, M., Foulks, E.F. The Journal of clinical psychiatry. (1982) [Pubmed]
  20. Analysis of complications of radiofrequency pallidotomy. Hua, Z., Guodong, G., Qinchuan, L., Yaqun, Z., Qinfen, W., Xuelian, W. Neurosurgery (2003) [Pubmed]
  21. Ocular and oculomotor signs in Joubert syndrome. Tusa, R.J., Hove, M.T. J. Child Neurol. (1999) [Pubmed]
  22. Chromosomal translocation in a child with SLI and apraxia. Weistuch, L., Schiff-Myers, N.B. Journal of speech and hearing research. (1996) [Pubmed]
  23. Speech and language impairment and oromotor dyspraxia due to deletion of 7q31 that involves FOXP2. Zeesman, S., Nowaczyk, M.J., Teshima, I., Roberts, W., Cardy, J.O., Brian, J., Senman, L., Feuk, L., Osborne, L.R., Scherer, S.W. Am. J. Med. Genet. A (2006) [Pubmed]
  24. The basal ganglia and apraxia. Pramstaller, P.P., Marsden, C.D. Brain (1996) [Pubmed]
  25. Ideomotor limb apraxia in Huntington's disease: implications for corticostriate involvement. Hamilton, J.M., Haaland, K.Y., Adair, J.C., Brandt, J. Neuropsychologia. (2003) [Pubmed]
  26. Craniofacial dyssynostosis: a further case report. Morton, J.E. Am. J. Med. Genet. (1998) [Pubmed]
  27. Epilepsies with single gene inheritance. Berkovic, S.F., Scheffer, I.E. Brain Dev. (1997) [Pubmed]
  28. Post-encephalitic segmental dystonia with apraxia of eyelid opening. Tan, M.H., Lim, E. Parkinsonism Relat. Disord. (2004) [Pubmed]
  29. The ataxia-oculomotor apraxia 1 gene product has a role distinct from ATM and interacts with the DNA strand break repair proteins XRCC1 and XRCC4. Clements, P.M., Breslin, C., Deeks, E.D., Byrd, P.J., Ju, L., Bieganowski, P., Brenner, C., Moreira, M.C., Taylor, A.M., Caldecott, K.W. DNA Repair (Amst.) (2004) [Pubmed]
  30. Alpha-synuclein accumulation in a case of neurodegeneration with brain iron accumulation type 1 (NBIA-1, formerly Hallervorden-Spatz syndrome) with widespread cortical and brainstem-type Lewy bodies. Neumann, M., Adler, S., Schlüter, O., Kremmer, E., Benecke, R., Kretzschmar, H.A. Acta Neuropathol. (2000) [Pubmed]
  31. Hint, Fhit, and GalT: function, structure, evolution, and mechanism of three branches of the histidine triad superfamily of nucleotide hydrolases and transferases. Brenner, C. Biochemistry (2002) [Pubmed]
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  33. Regulation of galactose-1-phosphate uridyltransferase gene expression. Heidenreich, R.A. Eur. J. Pediatr. (1995) [Pubmed]
  34. Constructional dyspraxia in preterm diplegia: isolation from visual and visual perceptual impairments. Koeda, T., Inoue, M., Takeshita, K. Acta Paediatr. (1997) [Pubmed]
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