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


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Disease relevance of Paraplegia


Psychiatry related information on Paraplegia


High impact information on Paraplegia


Chemical compound and disease context of Paraplegia


Biological context of Paraplegia


Anatomical context of Paraplegia


Gene context of Paraplegia

  • Mutations in the L1CAM gene cause a highly variable neurological disease described as X-linked hydrocephalus, MASA syndrome or spastic paraplegia type I. Over one-third of the mutations identified in affected boys are missense, unique to individual families and distributed primarily across the large extracellular domain of the L1 protein [29].
  • Spastic paraplegia type 2 associated with axonal neuropathy and apparent PLP1 position effect [30].
  • Mapping of a new form of pure autosomal recessive spastic paraplegia (SPG28) [31].
  • CONCLUSIONS: This study enables us to estimate the frequency of the SPG3A mutations in France at 39% in families with young-onset autosomal dominant spastic paraplegia after exclusion of SPG4 cases [32].
  • Genomic structure and expression analysis of the spastic paraplegia gene, SPG7 [33].

Analytical, diagnostic and therapeutic context of Paraplegia


  1. Biology of oligodendrocyte and myelin in the mammalian central nervous system. Baumann, N., Pham-Dinh, D. Physiol. Rev. (2001) [Pubmed]
  2. X-linked spastic paraplegia (SPG1), MASA syndrome and X-linked hydrocephalus result from mutations in the L1 gene. Jouet, M., Rosenthal, A., Armstrong, G., MacFarlane, J., Stevenson, R., Paterson, J., Metzenberg, A., Ionasescu, V., Temple, K., Kenwrick, S. Nat. Genet. (1994) [Pubmed]
  3. CAG repeat expansion in autosomal dominant familial spastic paraparesis: novel expansion in a subset of patients. Benson, K.F., Horwitz, M., Wolff, J., Friend, K., Thompson, E., White, S., Richards, R.I., Raskind, W.H., Bird, T.D. Hum. Mol. Genet. (1998) [Pubmed]
  4. Extramedullary hematopoiesis and spinal cord compression complicating polycythemia rubra vera. Rice, G.P., Assis, L.J., Barr, R.M., Ebers, G.C. Ann. Neurol. (1980) [Pubmed]
  5. Spastic paraplegia, optic atrophy, and neuropathy is linked to chromosome 11q13. Macedo-Souza, L.I., Kok, F., Santos, S., Amorim, S.C., Starling, A., Nishimura, A., Lezirovitz, K., Lino, A.M., Zatz, M. Ann. Neurol. (2005) [Pubmed]
  6. Mutations in the polyglutamine binding protein 1 gene cause X-linked mental retardation. Kalscheuer, V.M., Freude, K., Musante, L., Jensen, L.R., Yntema, H.G., Gécz, J., Sefiani, A., Hoffmann, K., Moser, B., Haas, S., Gurok, U., Haesler, S., Aranda, B., Nshedjan, A., Tzschach, A., Hartmann, N., Roloff, T.C., Shoichet, S., Hagens, O., Tao, J., Van Bokhoven, H., Turner, G., Chelly, J., Moraine, C., Fryns, J.P., Nuber, U., Hoeltzenbein, M., Scharff, C., Scherthan, H., Lenzner, S., Hamel, B.C., Schweiger, S., Ropers, H.H. Nat. Genet. (2003) [Pubmed]
  7. Serotonin-induced activation of the network for locomotion in adult spinal rats. Feraboli-Lohnherr, D., Barthe, J.Y., Orsal, D. J. Neurosci. Res. (1999) [Pubmed]
  8. Effects of chemotherapy on the central nervous system. A study of parenteral methotrexate in long-term survivors of leukemia and lymphoma in childhood. Meadows, A.T., Evans, A.E. Cancer (1976) [Pubmed]
  9. PS1 Alzheimer's disease family with spastic paraplegia: the search for a gene modifier. Rogaeva, E., Bergeron, C., Sato, C., Moliaka, I., Kawarai, T., Toulina, A., Song, Y.Q., Kolesnikova, T., Orlacchio, A., Bernardi, G., St George-Hyslop, P.H. Neurology (2003) [Pubmed]
  10. Spastin, a new AAA protein, is altered in the most frequent form of autosomal dominant spastic paraplegia. Hazan, J., Fonknechten, N., Mavel, D., Paternotte, C., Samson, D., Artiguenave, F., Davoine, C.S., Cruaud, C., Dürr, A., Wincker, P., Brottier, P., Cattolico, L., Barbe, V., Burgunder, J.M., Prud'homme, J.F., Brice, A., Fontaine, B., Heilig, B., Weissenbach, J. Nat. Genet. (1999) [Pubmed]
  11. Spastic paraplegia and OXPHOS impairment caused by mutations in paraplegin, a nuclear-encoded mitochondrial metalloprotease. Casari, G., De Fusco, M., Ciarmatori, S., Zeviani, M., Mora, M., Fernandez, P., De Michele, G., Filla, A., Cocozza, S., Marconi, R., Dürr, A., Fontaine, B., Ballabio, A. Cell (1998) [Pubmed]
  12. Paraplegia after iopamidol myelography. Bain, P.G., Colchester, A.C., Nadarajah, D. Lancet (1991) [Pubmed]
  13. Paraplegia after intrathecal mitozantrone. Lakhani, A.K., Zuiable, A.G., Pollard, C.M., Milne, A., Treleaven, J., Powles, R.L. Lancet (1986) [Pubmed]
  14. Mutation of the XNP/ATR-X gene in a family with severe mental retardation, spastic paraplegia and skewed pattern of X inactivation: demonstration that the mutation is involved in the inactivation bias. Lossi, A.M., Millán, J.M., Villard, L., Orellana, C., Cardoso, C., Prieto, F., Fontés, M., Martínez, F. Am. J. Hum. Genet. (1999) [Pubmed]
  15. Acute spinal cord ischemia: prevention of paraplegia with verapamil. Gelbfish, J.S., Phillips, T., Rose, D.M., Wait, R., Cunningham, J.N. Circulation (1986) [Pubmed]
  16. Metabolic changes in rabbit spinal cord after trauma: magnetic resonance spectroscopy studies. Vink, R., Noble, L.J., Knoblach, S.M., Bendall, M.R., Faden, A.I. Ann. Neurol. (1989) [Pubmed]
  17. Levodopa-responsive dystonia. GTP cyclohydrolase I or parkin mutations? Tassin, J., Dürr, A., Bonnet, A.M., Gil, R., Vidailhet, M., Lücking, C.B., Goas, J.Y., Durif, F., Abada, M., Echenne, B., Motte, J., Lagueny, A., Lacomblez, L., Jedynak, P., Bartholomé, B., Agid, Y., Brice, A. Brain (2000) [Pubmed]
  18. Cross-clamping of the thoracic aorta. Influence of aortic shunts, laminectomy, papaverine, calcium channel blocker, allopurinol, and superoxide dismutase on spinal cord blood flow and paraplegia in baboons. Svensson, L.G., Von Ritter, C.M., Groeneveld, H.T., Rickards, E.S., Hunter, S.J., Robinson, M.F., Hinder, R.A. Ann. Surg. (1986) [Pubmed]
  19. Protecting the ischemic spinal cord during aortic clamping. The influence of anesthetics and hypothermia. Naslund, T.C., Hollier, L.H., Money, S.R., Facundus, E.C., Skenderis, B.S. Ann. Surg. (1992) [Pubmed]
  20. Mapping of a complicated familial spastic paraplegia to locus SPG4 on chromosome 2p. Heinzlef, O., Paternotte, C., Mahieux, F., Prud'homme, J.F., Dien, J., Madigand, M., Pouget, J., Weissenbach, J., Roullet, E., Hazan, J. J. Med. Genet. (1998) [Pubmed]
  21. Bone remodeling during the development of osteoporosis in paraplegia. Chantraine, A., Nusgens, B., Lapiere, C.M. Calcif. Tissue Int. (1986) [Pubmed]
  22. Cortical potentials during imagined movements in individuals with chronic spinal cord injuries. Lacourse, M.G., Cohen, M.J., Lawrence, K.E., Romero, D.H. Behav. Brain Res. (1999) [Pubmed]
  23. The Troyer syndrome (SPG20) protein spartin interacts with Eps15. Bakowska, J.C., Jenkins, R., Pendleton, J., Blackstone, C. Biochem. Biophys. Res. Commun. (2005) [Pubmed]
  24. Spectrum and detection rate of L1CAM mutations in isolated and familial cases with clinically suspected L1-disease. Finckh, U., Schröder, J., Ressler, B., Veske, A., Gal, A. Am. J. Med. Genet. (2000) [Pubmed]
  25. A silent mutation, C924T (G308G), in the L1CAM gene results in X linked hydrocephalus (HSAS). Du, Y.Z., Dickerson, C., Aylsworth, A.S., Schwartz, C.E. J. Med. Genet. (1998) [Pubmed]
  26. Paraplegia following coeliac plexus block. De Conno, F., Caraceni, A., Aldrighetti, L., Magnani, G., Ferla, G., Comi, G., Ventafridda, V. Pain (1993) [Pubmed]
  27. Prevention of ischemic spinal cord injury: comparative effects of magnesium sulfate and riluzole. Lang-Lazdunski, L., Heurteaux, C., Dupont, H., Widmann, C., Lazdunski, M. J. Vasc. Surg. (2000) [Pubmed]
  28. Paraplegia due to a ruptured aneurysm of the distal posterior inferior cerebellar artery. Kashiwagi, S., Tsuchida, E., Shiroyama, Y., Ito, H., Yamashita, T. J. Neurol. Neurosurg. Psychiatr. (1992) [Pubmed]
  29. Disease-associated mutations in L1 CAM interfere with ligand interactions and cell-surface expression. De Angelis, E., Watkins, A., Schäfer, M., Brümmendorf, T., Kenwrick, S. Hum. Mol. Genet. (2002) [Pubmed]
  30. Spastic paraplegia type 2 associated with axonal neuropathy and apparent PLP1 position effect. Lee, J.A., Madrid, R.E., Sperle, K., Ritterson, C.M., Hobson, G.M., Garbern, J., Lupski, J.R., Inoue, K. Ann. Neurol. (2006) [Pubmed]
  31. 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]
  32. Atlastin1 mutations are frequent in young-onset autosomal dominant spastic paraplegia. Dürr, A., Camuzat, A., Colin, E., Tallaksen, C., Hannequin, D., Coutinho, P., Fontaine, B., Rossi, A., Gil, R., Rousselle, C., Ruberg, M., Stevanin, G., Brice, A. Arch. Neurol. (2004) [Pubmed]
  33. Genomic structure and expression analysis of the spastic paraplegia gene, SPG7. Settasatian, C., Whitmore, S.A., Crawford, J., Bilton, R.L., Cleton-Jansen, A.M., Sutherland, G.R., Callen, D.F. Hum. Genet. (1999) [Pubmed]
  34. Paraparesis following intrathecal chemotherapy. Hahn, A.F., Feasby, T.E., Gilbert, J.J. Neurology (1983) [Pubmed]
  35. Circadian blood pressure rhythm in patients with higher and lower spinal cord injury: simultaneous evaluation of autonomic nervous activity and physical activity. Munakata, M., Kameyama, J., Kanazawa, M., Nunokawa, T., Moriai, N., Yoshinaga, K. J. Hypertens. (1997) [Pubmed]
  36. Regional adenosine attenuates postischemic spinal cord injury. Seibel, P.S., Theodore, P., Kron, I.L., Tribble, C.G. J. Vasc. Surg. (1993) [Pubmed]
  37. Calcium-induced spongiform and necrotizing myelopathy. Balentine, J.D., Dean, D.L. Lab. Invest. (1982) [Pubmed]
  38. Cisplatin-induced hypokalemic paralysis. Mohammadianpanah, M., Omidvari, S., Mosalaei, A., Ahmadloo, N. Clinical therapeutics. (2004) [Pubmed]
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