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

Isaacs Syndrome

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Disease relevance of Isaacs Syndrome


High impact information on Isaacs Syndrome

  • CONCLUSION: The acute neurotoxicity seen with oxaliplatin is characterized by peripheral-nerve hyperexcitability, and the findings are similar to the clinical manifestations of neuromyotonia [6].
  • The quantal release of acetylcholine (quantal content) at end-plates in diaphragms from mice treated with neuromyotonia IgG preparations was increased by 21% relative to control values (p = 0.0053) [7].
  • We conclude that at least some patients with acquired neuromyotonia have antibodies directed against aminopyridine- or alpha-dendrotoxin-sensitive K+ channels in motor and sensory neurons, and they are likely to be implicated in the disease process [7].
  • Hereditary neuromyotonia: a mouse model associated with deficiency or increased gene dosage of the PMP22 gene [8].
  • By comparison, analysis of the large glycolytic triceps muscle, a forelimb muscle which does not receive pseudomyotonia, indicated that this muscle did not increase in SDH activity in dystrophic animals, which showed the abnormal increase in the activity of the hind limb gastrocnemius [9].

Chemical compound and disease context of Isaacs Syndrome


Biological context of Isaacs Syndrome

  • In these conditions, a proportion of the patients have an underlying tumour, thymoma in both MG and neuromyotonia and small cell lung carcinoma in LEMS, emphasising the putative role of autoimmunity to tumour antigens as a cause of neurological disease [15].

Anatomical context of Isaacs Syndrome


Gene context of Isaacs Syndrome


Analytical, diagnostic and therapeutic context of Isaacs Syndrome


  1. Isolated finger flexion: a novel form of focal neuromyotonia. Modarres, H., Samuel, M., Schon, F. J. Neurol. Neurosurg. Psychiatr. (2000) [Pubmed]
  2. Expanding the phenotype of potassium channelopathy: severe neuromyotonia and skeletal deformities without prominent Episodic Ataxia. Kinali, M., Jungbluth, H., Eunson, L.H., Sewry, C.A., Manzur, A.Y., Mercuri, E., Hanna, M.G., Muntoni, F. Neuromuscul. Disord. (2004) [Pubmed]
  3. Idiopathic generalized myokymia (Isaacs' syndrome) with hand posturing resembling dystonia. Tuite, P.J., Navarette, C., Bril, V., Lang, A.E. Mov. Disord. (1996) [Pubmed]
  4. Isaacs' syndrome (autoimmune neuromyotonia) in a patient with systemic lupus erythematosus. Taylor, P.W. J. Rheumatol. (2005) [Pubmed]
  5. Thymoma-associated neuromyotonia with antibodies against voltage-gated potassium channels presenting as chronic intestinal pseudo-obstruction. Viallard, J.F., Vincent, A., Moreau, J.F., Parrens, M., Pellegrin, J.L., Ellie, E. Eur. Neurol. (2005) [Pubmed]
  6. Acute oxaliplatin-induced peripheral nerve hyperexcitability. Wilson, R.H., Lehky, T., Thomas, R.R., Quinn, M.G., Floeter, M.K., Grem, J.L. J. Clin. Oncol. (2002) [Pubmed]
  7. Acquired neuromyotonia: evidence for autoantibodies directed against K+ channels of peripheral nerves. Shillito, P., Molenaar, P.C., Vincent, A., Leys, K., Zheng, W., van den Berg, R.J., Plomp, J.J., van Kempen, G.T., Chauplannaz, G., Wintzen, A.R. Ann. Neurol. (1995) [Pubmed]
  8. Hereditary neuromyotonia: a mouse model associated with deficiency or increased gene dosage of the PMP22 gene. Toyka, K.V., Zielasek, J., Ricker, K., Adlkofer, K., Suter, U. J. Neurol. Neurosurg. Psychiatr. (1997) [Pubmed]
  9. Age-related changes in oxidative capacity of the gastrocnemius muscle in normal and dystrophic (dy2J/dy2J) mice. Hargroder, G.T., Talmadge, R.J., Silverman, H. Exp. Neurol. (1986) [Pubmed]
  10. Chronic phenytoin administration alters the metabolic profile of superficial gastrocnemius muscle fibers in dystrophic mice. Younger, L.E., Silverman, H. Exp. Neurol. (1984) [Pubmed]
  11. Valproic acid in Isaacs-Mertens syndrome. Vasilescu, C., Alexianu, M., Dan, A. Clinical neuropharmacology. (1987) [Pubmed]
  12. Creatine kinase (CK)-linked IgA in Isaacs' syndrome. An immune complex disease? Nagashima, T., Kamegai, M., Hirose, K., Yamada, K., Uono, M., Tsubaki, T., Nagashima, K. J. Neurol. Sci. (1985) [Pubmed]
  13. Decreased conduction velocity and pseudomyotonia in hexachlorobenzene-fed rats. Sufit, R.L., Hodach, R., Arends, R., Peters, H.A., Ertürk, E., Cripps, D.J. IARC Sci. Publ. (1986) [Pubmed]
  14. Penicillamine-induced neuromyotonia. Reeback, J., Benton, S., Swash, M., Schwartz, M.S. British medical journal. (1979) [Pubmed]
  15. Autoantibodies to ion channels at the neuromuscular junction. Lang, B., Vincent, A. Autoimmunity reviews. (2003) [Pubmed]
  16. Autoantibodies, neurotoxins and the nervous system. Vincent, A., Roberts, M., Willison, H., Lang, B., Newsom-Davis, J. J. Physiol. Paris (1995) [Pubmed]
  17. Neuromyotonia, systemic lupus erythematosus and acetylcholine-receptor antibodies. Magnani, G., Nemni, R., Leocani, L., Amadio, S., Locatelli, T., Maderna, L., Canal, N., Comi, G. J. Neurol. (1998) [Pubmed]
  18. Neuromyotonia in mice with hereditary myelinopathies. Zielasek, J., Martini, R., Suter, U., Toyka, K.V. Muscle Nerve (2000) [Pubmed]
  19. Systemic juvenile rheumatoid arthritis and associated Isaacs' syndrome. Le Gars, L., Clerc, D., Cariou, D., Lavabre, C., Metral, S., Bisson, M. J. Rheumatol. (1997) [Pubmed]
  20. Sequential antibodies to potassium channels and glutamic acid decarboxylase in neuromyotonia. Antozzi, C., Frassoni, C., Vincent, A., Regondi, M.C., Andreetta, F., Bernasconi, P., Ciano, C., Chang, T., Cornelio, F., Spreafico, R., Mantegazza, R. Neurology (2005) [Pubmed]
  21. Intermittent diplopia and strabismus caused by ocular neuromyotonia. Yee, R.D., Purvin, V.A., Azzarelli, B., Nelson, P.B. Transactions of the American Ophthalmological Society. (1996) [Pubmed]
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