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Journal of genetic medicine, v.10 no.2, 2013년, pp.113 - 116
Yoo, Il Han (Pediatric Clinical Neuroscience Center, Department of Pediatrics, Seoul National University Children's hospital) , Hong, Won Gi (Pediatric Clinical Neuroscience Center, Department of Pediatrics, Seoul National University Children's hospital) , Kim, Hunmin (Department of Pediatrics, Seoul National University Bundang Hospital) , Lim, Byung Chan (Pediatric Clinical Neuroscience Center, Department of Pediatrics, Seoul National University Children's hospital) , Hwang, Hee (Department of Pediatrics, Seoul National University Bundang Hospital) , Chae, Jong-Hee (Pediatric Clinical Neuroscience Center, Department of Pediatrics, Seoul National University Children's hospital) , Kim, Ki Joong (Pediatric Clinical Neuroscience Center, Department of Pediatrics, Seoul National University Children's hospital) , Hwang, Yong Seung (Pediatric Clinical Neuroscience Center, Department of Pediatrics, Seoul National University Children's hospital)
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Alexander disease is a rare degenerative leukodystrophy caused by dominant mutations in glial fibrillary acidic protein (GFAP). The neonatal form of Alexander disease may manifest as frequent and intractable seizures or obstructive hydrocephalus, with rapid progression leading to severe disability o...
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Singh N, Bixby C, Etienne D, Tubbs RS, Loukas M. Alexander's disease: reassessment of a neonatal form. Childs Nerv Syst 2012;28:2029-31.
Springer S, Erlewein R, Naegele T, Becker I, Auer D, Grodd W, et al. Alexander disease--classification revisited and isolation of a neonatal form. Neuropediatrics 2000;31:86-92.
Li R, Johnson AB, Salomons G, Goldman JE, Naidu S, Quinlan R, et al. Glial fibrillary acidic protein mutations in infantile, juvenile, and adult forms of Alexander disease. Ann Neurol 2005;57:310-26.
Hartmann H, Herchenbach J, Stephani U, Ledaal P, Donnerstag F, Lucke T, et al. Novel mutations in exon 6 of the GFAP gene affect a highly conserved if motif in the rod domain 2B and are associated with early onset infantile Alexander disease. Neuropediatrics 2007;38:143-7.
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Lee JM, Kim AS, Lee SJ, Cho SM, Lee DS, Choi SM, et al. A case of infantile Alexander disease accompanied by infantile spasms diagnosed by DNA analysis J Korean Med Sci 2006; 21: 954-7.
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