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MeSH Review

Dysautonomia, Familial

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Disease relevance of Dysautonomia, Familial


High impact information on Dysautonomia, Familial


Chemical compound and disease context of Dysautonomia, Familial


Biological context of Dysautonomia, Familial


Anatomical context of Dysautonomia, Familial

  • Nerve growth factor was measured in cultured human skin fibroblasts from controls and from patients with familial dysautonomia and dystonia musculoram deformans [16].
  • Additionally, our results point to a role of JNK signaling in familial dysautonomia and, thus, further support the involvement of JNK signaling in the development, survival, and degeneration of the sensory and autonomic nervous system [17].
  • Some symptoms resemble familial dysautonomia (FD, Riley-Day syndrome), however, hallmarks of FD, such as absence of fungiform papillae of the tongue, abnormal reaction on intradermal histamine injection, absent tendon reflexes, are missing, and central motor disturbances have not been described in FD [18].
  • The Riley-Day syndrome is characterized by a dysfunction of the autonomous nervous system, sensory disturbances, neurological disorders, psychical anomalies and important ophthalmological symptoms, such as absence of tears, corneal anaesthesia, keratinized conjunctiva and cornea; myosis after instillation of methacholine [19].

Gene context of Dysautonomia, Familial


Analytical, diagnostic and therapeutic context of Dysautonomia, Familial


  1. Hypersensitivity to N-methyl-N'-nitro-N-nitrosoguanidine in fibroblasts from patients with Huntington disease, familial dysautonomia, and other primary neuronal degenerations. Scudiero, D.A., Meyer, S.A., Clatterbuck, B.E., Tarone, R.E., Robbins, J.H. Proc. Natl. Acad. Sci. U.S.A. (1981) [Pubmed]
  2. Studies of cellular radiosensitivity in hereditary disorders of nervous system and muscle. Brennan, S., Lewis, P.D. J. Neurol. Neurosurg. Psychiatr. (1983) [Pubmed]
  3. Growth hormone treatment in children with familial dysautonomia. Kamboj, M.K., Axelrod, F.B., David, R., Geffner, M.E., Novogroder, M., Oberfield, S.E., Turco, J.H., Maayan, C., Kohn, B. J. Pediatr. (2004) [Pubmed]
  4. Preliminary observations on the use of midodrine in treating orthostatic hypotension in familial dysautonomia. Axelrod, F.B., Krey, L., Glickstein, J.S., Allison, J.W., Friedman, D. J. Auton. Nerv. Syst. (1995) [Pubmed]
  5. Familial dysautonomia: a diagnostic dilemma. chronic lung disease with signs of an autoimmune disease. van Egmond-Fröhlich, A.W., Paul, K., Eggert, W., Gaedicke, G., Wahn, U., Bauer, C.P. Pediatr. Pulmonol. (2001) [Pubmed]
  6. A VIP-containing system concentrated in the lumbosacral region of human spinal cord. Anand, P., Gibson, S.J., McGregor, G.P., Blank, M.A., Ghatei, M.A., Bacarese-Hamilton, A.J., Polak, J.M., Bloom, S.R. Nature (1983) [Pubmed]
  7. Tyrosine hydroxylase immunoreactivity in familial dysautonomia. Pearson, J., Brandeis, L., Goldstein, M. Science (1979) [Pubmed]
  8. Elp1p, the yeast homolog of the FD disease syndrome protein, negatively regulates exocytosis independently of transcriptional elongation. Rahl, P.B., Chen, C.Z., Collins, R.N. Mol. Cell (2005) [Pubmed]
  9. Tissue-specific reduction in splicing efficiency of IKBKAP due to the major mutation associated with familial dysautonomia. Cuajungco, M.P., Leyne, M., Mull, J., Gill, S.P., Lu, W., Zagzag, D., Axelrod, F.B., Maayan, C., Gusella, J.F., Slaugenhaupt, S.A. Am. J. Hum. Genet. (2003) [Pubmed]
  10. Dermal microdialysis provides evidence for hypersensitivity to noradrenaline in patients with familial dysautonomia. Bickel, A., Axelrod, F.B., Schmelz, M., Marthol, H., Hilz, M.J. J. Neurol. Neurosurg. Psychiatr. (2002) [Pubmed]
  11. Fentanyl anesthesia in familial dysautonomia. Beilin, B., Maayan, C., Vatashsky, E., Shulman, D., Vinograd, I., Aronson, H.B. Anesth. Analg. (1985) [Pubmed]
  12. Serum dopamine-beta-hydroxylase in familial dysautonomia. Freedman, L.S., Ebstein, R.P., Goldstein, M., Axelrod, F.B., Dancis, J. J. Lab. Clin. Med. (1975) [Pubmed]
  13. Assessing microcirculation in familial dysautonomia by laser Doppler flowmeter. Weiser, M., Hilz, M.J., Bronfin, L., Axelrod, F.B. Clin. Auton. Res. (1998) [Pubmed]
  14. Familial dysautonomia is caused by mutations of the IKAP gene. Anderson, S.L., Coli, R., Daly, I.W., Kichula, E.A., Rork, M.J., Volpi, S.A., Ekstein, J., Rubin, B.Y. Am. J. Hum. Genet. (2001) [Pubmed]
  15. Genetics of familial dysautonomia. Tissue-specific expression of a splicing mutation in the IKBKAP gene. Slaugenhaupt, S.A. Clin. Auton. Res. (2002) [Pubmed]
  16. Altered nerve growth factor in fibroblasts from patients with familial dysautonomia. Schwartz, J.P., Breakefield, X.O. Proc. Natl. Acad. Sci. U.S.A. (1980) [Pubmed]
  17. A novel specific role for I kappa B kinase complex-associated protein in cytosolic stress signaling. Holmberg, C., Katz, S., Lerdrup, M., Herdegen, T., Jäättelä, M., Aronheim, A., Kallunki, T. J. Biol. Chem. (2002) [Pubmed]
  18. Early-onset multisystem degeneration with central motor, autonomic and optic nerve disturbances: unusual Riley-Day syndrome or new clinical entity? Schnitzler, A., Witte, O.W., Kunesch, E., Freund, H.J., Benecke, R. J. Neurol. Sci. (1998) [Pubmed]
  19. The Riley-Day syndrome. Familial dysautonomy, central autonomic dysfunction. François, J. Ophthalmologica (1977) [Pubmed]
  20. Tissue-specific expression of a splicing mutation in the IKBKAP gene causes familial dysautonomia. Slaugenhaupt, S.A., Blumenfeld, A., Gill, S.P., Leyne, M., Mull, J., Cuajungco, M.P., Liebert, C.B., Chadwick, B., Idelson, M., Reznik, L., Robbins, C., Makalowska, I., Brownstein, M., Krappmann, D., Scheidereit, C., Maayan, C., Axelrod, F.B., Gusella, J.F. Am. J. Hum. Genet. (2001) [Pubmed]
  21. The human gene for neurotrophic tyrosine kinase receptor type 2 (NTRK2) is located on chromosome 9 but is not the familial dysautonomia gene. Slaugenhaupt, S.A., Blumenfeld, A., Liebert, C.B., Mull, J., Lucente, D.E., Monahan, M., Breakefield, X.O., Maayan, C., Parada, L., Axelrod, F.B. Genomics (1995) [Pubmed]
  22. Cloning, mapping, and expression of two novel actin genes, actin-like-7A (ACTL7A) and actin-like-7B (ACTL7B), from the familial dysautonomia candidate region on 9q31. Chadwick, B.P., Mull, J., Helbling, L.A., Gill, S., Leyne, M., Robbins, C.M., Pinkett, H.W., Makalowska, I., Maayan, C., Blumenfeld, A., Axelrod, F.B., Brownstein, M., Gusella, J.F., Slaugenhaupt, S.A. Genomics (1999) [Pubmed]
  23. Cloning, genomic organization and expression of a putative human transmembrane protein related to the Caenorhabditis elegans M01F1.4 gene. Chadwick, B.P., Gill, S., Leyne, M., Mull, J., Liebert, C.B., Robbins, C.M., Pinkett, H.W., Makalowska, I., Maayan, C., Blumenfeld, A., Axelrod, F.B., Brownstein, M., Slaugenhaupt, S.A. Gene (1999) [Pubmed]
  24. Genomic organization and chromosomal localization of the mouse IKBKAP gene. Coli, R., Anderson, S.L., Volpi, S.A., Rubin, B.Y. Gene (2001) [Pubmed]
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