Disorders of Neurotransmitter Metabolism

作者: Keith Hyland

DOI: 10.1007/978-3-642-55878-8_8

关键词:

摘要: This chapter will focus on primary disorders of serotonin and catecholamine (biogenic amine) metabolism the defect affecting glycine receptor (hyperekplexia). Secondary biogenic amine are described elsewhere (disorders 1.2, 1.3, 1.4, 1.5, 1.6, 21.4, 31.2).

参考文章(16)
Barbara L�decke, Klaus Bartholom�, Frequent sequence variant in the human tyrosine hydroxylase gene Human Genetics. ,vol. 95, pp. 716- 716 ,(1995) , 10.1007/BF00209496
Stephen F. Kingsmore, Bruno Giros, David Suh, Mark Bieniarz, Marc G. Caron, Michael F. Seldin, Glycine receptor β–subunit gene mutation in spastic mouse associated with LINE–1 element insertion Nature Genetics. ,vol. 7, pp. 136- 142 ,(1994) , 10.1038/NG0694-136
Klaus Bartholomé, Barbara Lüdecke, Mutations in the tyrosine hydroxylase gene cause various forms of L-dopa-responsive dystonia. Advances in pharmacology. ,vol. 42, pp. 48- 49 ,(1997) , 10.1016/S1054-3589(08)60692-4
W. Berger, A. Meindl, T.J.R. van de Pol, F.P.M. Cremers, H.H. Ropers, C. Döerner, A. Monaco, A.A.B. Bergen, R. Lebo, M. Warburg, L. Zergollern, B. Lorenz, A. Gal, E.M. Bleeker-Wagemakers, T. Meitinger, Isolation of a candidate gene for Norrie disease by positional cloning. Nature Genetics. ,vol. 1, pp. 199- 203 ,(1992) , 10.1038/NG0692-199
Rita Shiang, Stephen G. Ryan, Ya-Zhen Zhu, Angelika F. Hahn, Peter O'Connell, John Jacob Wasmuth, Mutations in the alpha 1 subunit of the inhibitory glycine receptor cause the dominant neurologic disorder, hyperekplexia. Nature Genetics. ,vol. 5, pp. 351- 358 ,(1993) , 10.1038/NG1293-351
Felicity A. Collins, Dennis L. Murphy, Allan L. Reiss, Katherine B. Sims, John G. Lewis, Lisa Freund, Farouk Karoum, Danping Zhu, Irene H. Maumenee, Stylianos E. Antonarakis, Clinical, biochemical, and neuropsychiatric evaluation of a patient with a contiguous gene syndrome due to a microdeletion Xp11.3 including the Norrie disease locus and monoamine oxidase (MAOA and MAOB) genes American Journal of Medical Genetics. ,vol. 42, pp. 127- 134 ,(1992) , 10.1002/AJMG.1320420126
Martin Andrew, Michael J. Owen, Hyperekplexia: abnormal startle response due to glycine receptor mutations British Journal of Psychiatry. ,vol. 170, pp. 106- 108 ,(1997) , 10.1192/BJP.170.2.106
Susan B. Edelstein, Xandra O. Breakefield, Monoamine oxidases A and B are differentially regulated by glucocorticoids and "aging" in human skin fibroblasts. Cellular and Molecular Neurobiology. ,vol. 6, pp. 121- 150 ,(1986) , 10.1007/BF00711066
David Robertson, Michael R. Goldberg, Jack Onrot, Alan S. Hollister, Ron Wiley, John G. Thompson, Rose Marie Robertson, Isolated failure of autonomic noradrenergic neurotransmission. Evidence for impaired beta-hydroxylation of dopamine. The New England Journal of Medicine. ,vol. 314, pp. 1494- 1497 ,(1986) , 10.1056/NEJM198606053142307
M.N. Vergouwe, M.A.J. Tijssen, R. Shiang, J.G. van Dijk, Saad Al Shahwan, R.A. Ophoff, R.R. Frants, Hyperekplexia-like syndromes without mutations in the GLRA1 gene Clinical Neurology and Neurosurgery. ,vol. 99, pp. 172- 178 ,(1997) , 10.1016/S0303-8467(97)00022-X