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REFERENCES Barkovich AJ, Messing A. Alexander disease: not just a leukodystrophy anymore. Neurology 2006; 66:468. Russo LS Jr, Aron A, Anderson PJ. Alexander's disease: a report and reappraisal. Neurology 1976; 26:607. ALEXANDER WS. Progressive fibrinoid degeneration of fibrillary astrocytes associated with mental retardation in a hydrocephalic infant. Brain 1949; 72:373. Rosenthal, W. Über eine eigenthümliche, mit syringomyelie complicirte geschwulst des rückenmarks. Bietr Pathol Anat 1898; 23:111. Brenner M, Johnson AB, Boespflug-Tanguy O, et al. Mutations in GFAP, encoding glial fibrillary acidic protein, are associated with Alexander disease. Nat Genet 2001; 27:117. Fenichel, GM. Clinical pediatric neurology: a signs and symptoms approach, 5th Ed, Philadelphia 2005. p.133. Iwaki T, Kume-Iwaki A, Liem RK, Goldman JE. Alpha B-crystallin is expressed in non-lenticular tissues and accumulates in Alexander's disease brain. Cell 1989; 57:71. Tomokane N, Iwaki T, Tateishi J, et al. Rosenthal fibers share epitopes with alpha B-crystallin, glial fibrillary acidic protein, and ubiquitin, but not with vimentin. Immunoelectron microscopy with colloidal gold. Am J Pathol 1991; 138:875. Iwaki A, Iwaki T, Goldman JE, et al. Accumulation of alpha B-crystallin in brains of patients with Alexander's disease is not due to an abnormality of the 5'-flanking and coding sequence of the genomic DNA. Neurosci Lett 1992; 140:89. Head MW, Corbin E, Goldman JE. Overexpression and abnormal modification of the stress proteins alpha B-crystallin and HSP27 in Alexander disease. Am J Pathol 1993; 143:1743. Head MW, Goldman JE. Small heat shock proteins, the cytoskeleton, and inclusion body formation. Neuropathol Appl Neurobiol 2000; 26:304. Johnson AB, Brenner M. Alexander's disease: clinical, pathologic, and genetic features. J Child Neurol 2003; 18:625. Eng LF, Ghirnikar RS, Lee YL. Glial fibrillary acidic protein: GFAP-thirty-one years (1969-2000). Neurochem Res 2000; 25:1439. Li R, Messing A, Goldman JE, Brenner M. GFAP mutations in Alexander disease. Int J Dev Neurosci 2002; 20:259. Nielsen AL, Jørgensen P, Jørgensen AL. Mutations associated with a childhood leukodystrophy, Alexander disease, cause deficiency in dimerization of the cytoskeletal protein GFAP. J Neurogenet 2002; 16:175. Gorospe JR. Alexander disease. In: GeneReviews [Internet]. www.ncbi.nlm.nih.gov/books/NBK1172/ (Accessed on October 05, 2011).

Nielsen AL, Jørgensen P, Jørgensen AL. Mutations associated with a childhood leukodystrophy, Alexander disease, cause deficiency in dimerization of the cytoskeletal protein GFAP. J Neurogenet 2002; 16:175. Gorospe JR. Alexander disease. In: GeneReviews [Internet]. www.ncbi.nlm.nih.gov/books/NBK1172/ (Accessed on October 05, 2011). Garbern, JY. Leukodystrophies. In: Neurogenetics: Clinical and Scientific Advances, Lynch, DR (Ed), Taylor and Francis, New York 2005. p.469. Springer S, Erlewein R, Naegele T, et al. Alexander disease--classification revisited and isolation of a neonatal form. Neuropediatrics 2000; 31:86. Bassuk AG, Joshi A, Burton BK, et al. Alexander disease with serial MRS and a new mutation in the glial fibrillary acidic protein gene. Neurology 2003; 61:1014. Kinoshita T, Imaizumi T, Miura Y, et al. A case of adult-onset Alexander disease with Arg416Trp human glial fibrillary acidic protein gene mutation. Neurosci Lett 2003; 350:169. Van Poppel K, Broniscer A, Patay Z, Morris EB. Alexander disease: An important mimicker of focal brainstem glioma. Pediatr Blood Cancer 2009; 53:1355. Niinikoski H, Haataja L, Brander A, et al. Alexander disease as a cause of nocturnal vomiting in a 7-year-old girl. Pediatr Radiol 2009; 39:872. Franzoni E, Van der Knaap MS, Errani A, et al. Unusual diagnosis in a child suffering from juvenile Alexander disease: clinical and imaging report. J Child Neurol 2006; 21:1075. Stumpf E, Masson H, Duquette A, et al. Adult Alexander disease with autosomal dominant transmission: a distinct entity caused by mutation in the glial fibrillary acid protein gene. Arch Neurol 2003; 60:1307. Martidis A, Yee RD, Azzarelli B, Biller J. Neuro-ophthalmic, radiographic, and pathologic manifestations of adult-onset Alexander disease. Arch Ophthalmol 1999; 117:265. Sreedharan J, Shaw CE, Jarosz J, Samuel M. Alexander disease with hypothermia, microcoria, and psychiatric and endocrine disturbances. Neurology 2007; 68:1322. Pareyson D, Fancellu R, Mariotti C, et al. Adult-onset Alexander disease: a series of eleven unrelated cases with review of the literature. Brain 2008; 131:2321. Farina L, Pareyson D, Minati L, et al. Can MR imaging diagnose adult-onset Alexander disease? AJNR Am J Neuroradiol 2008; 29:1190. Okamoto Y, Mitsuyama H, Jonosono M, et al. Autosomal dominant palatal myoclonus and spinal cord atrophy. J Neurol Sci 2002; 195:71.

Pareyson D, Fancellu R, Mariotti C, et al. Adult-onset Alexander disease: a series of eleven unrelated cases with review of the literature. Brain 2008; 131:2321. Farina L, Pareyson D, Minati L, et al. Can MR imaging diagnose adult-onset Alexander disease? AJNR Am J Neuroradiol 2008; 29:1190. Okamoto Y, Mitsuyama H, Jonosono M, et al. Autosomal dominant palatal myoclonus and spinal cord atrophy. J Neurol Sci 2002; 195:71. Prust M, Wang J, Morizono H, et al. GFAP mutations, age at onset, and clinical subtypes in Alexander disease. Neurology 2011; 77:1287. GFAP mutations associated with Alexander disease. Waisman Center, University of Wisconsin-Madison. www.waisman.wisc.edu/alexander-disease/mutation-table.pdf (Accessed on October 05, 2011). Rodriguez D, Gauthier F, Bertini E, et al. Infantile Alexander disease: spectrum of GFAP mutations and genotype-phenotype correlation. Am J Hum Genet 2001; 69:1134. Gorospe JR, Naidu S, Johnson AB, et al. Molecular findings in symptomatic and pre-symptomatic Alexander disease patients. Neurology 2002; 58:1494. Meins M, Brockmann K, Yadav S, et al. Infantile Alexander disease: a GFAP mutation in monozygotic twins and novel mutations in two other patients. Neuropediatrics 2002; 33:194. Li R, Johnson AB, Salomons G, et al. Glial fibrillary acidic protein mutations in infantile, juvenile, and adult forms of Alexander disease. Ann Neurol 2005; 57:310. van der Knaap MS, Naidu S, Breiter SN, et al. Alexander disease: diagnosis with MR imaging. AJNR Am J Neuroradiol 2001; 22:541. van der Knaap MS, Breiter SN, Naidu S, et al. Defining and categorizing leukoencephalopathies of unknown origin: MR imaging approach. Radiology 1999; 213:121. Vázquez E, Macaya A, Mayolas N, et al. Neonatal Alexander disease: MR imaging prenatal diagnosis. AJNR Am J Neuroradiol 2008; 29:1973. van der Knaap MS, Salomons GS, Li R, et al. Unusual variants of Alexander's disease. Ann Neurol 2005; 57:327. van der Knaap MS, Ramesh V, Schiffmann R, et al. Alexander disease: ventricular garlands and abnormalities of the medulla and spinal cord. Neurology 2006; 66:494. Probst EN, Hagel C, Weisz V, et al. Atypical focal MRI lesions in a case of juvenile Alexander's disease. Ann Neurol 2003; 53:118. Romano S, Salvetti M, Ceccherini I, et al. Brainstem signs with progressing atrophy of medulla oblongata and upper cervical spinal cord. Lancet Neurol 2007; 6:562.

van der Knaap MS, Ramesh V, Schiffmann R, et al. Alexander disease: ventricular garlands and abnormalities of the medulla and spinal cord. Neurology 2006; 66:494. Probst EN, Hagel C, Weisz V, et al. Atypical focal MRI lesions in a case of juvenile Alexander's disease. Ann Neurol 2003; 53:118. Romano S, Salvetti M, Ceccherini I, et al. Brainstem signs with progressing atrophy of medulla oblongata and upper cervical spinal cord. Lancet Neurol 2007; 6:562. Duckett S, Schwartzman RJ, Osterholm J, et al. Biopsy diagnosis of familial Alexander's disease. Pediatr Neurosurg 1992; 18:134. Brockmann K, Dechent P, Meins M, et al. Cerebral proton magnetic resonance spectroscopy in infantile Alexander disease. J Neurol 2003; 250:300. Alexander disease. Gene Tests. www.ncbi.nlm.nih.gov/sites/GeneTests/lab/clinical_disease_id/56683?db=genetests (Accessed on October 05, 2011). Schiffmann R, van der Knaap MS. Invited article: an MRI-based approach to the diagnosis of white matter disorders. Neurology 2009; 72:750. van der Knaap MS, Barth PG, Stroink H, et al. Leukoencephalopathy with swelling and a discrepantly mild clinical course in eight children. Ann Neurol 1995; 37:324. van der Knaap MS, Boor I, Estévez R. Megalencephalic leukoencephalopathy with subcortical cysts: chronic white matter oedema due to a defect in brain ion and water homoeostasis. Lancet Neurol 2012; 11:973. van der Knaap MS, Smit LM, Barth PG, et al. Magnetic resonance imaging in classification of congenital muscular dystrophies with brain abnormalities. Ann Neurol 1997; 42:50. Brockmann K, Meins M, Taubert A, et al. A novel GFAP mutation and disseminated white matter lesions: adult Alexander disease? Eur Neurol 2003; 50:100. Seil FJ, Schochet SS Jr, Earle KM. Alexander's disease in an adult. Report of a case. Arch Neurol 1968; 19:494. Schwankhaus JD, Parisi JE, Gulledge WR, et al. Hereditary adult-onset Alexander's disease with palatal myoclonus, spastic paraparesis, and cerebellar ataxia. Neurology 1995; 45:2266. Sechi G, Matta M, Deiana GA, et al. Ceftriaxone has a therapeutic role in Alexander disease. Prog Neuropsychopharmacol Biol Psychiatry 2010; 34:416. Rothstein JD, Patel S, Regan MR, et al. Beta-lactam antibiotics offer neuroprotection by increasing glutamate transporter expression. Nature 2005; 433:73. Lipski J, Wan CK, Bai JZ, et al. Neuroprotective potential of ceftriaxone in in vitro models of stroke. Neuroscience 2007; 146:617.

Sechi G, Matta M, Deiana GA, et al. Ceftriaxone has a therapeutic role in Alexander disease. Prog Neuropsychopharmacol Biol Psychiatry 2010; 34:416. Rothstein JD, Patel S, Regan MR, et al. Beta-lactam antibiotics offer neuroprotection by increasing glutamate transporter expression. Nature 2005; 433:73. Lipski J, Wan CK, Bai JZ, et al. Neuroprotective potential of ceftriaxone in in vitro models of stroke. Neuroscience 2007; 146:617. Topic 1695 Version 6.0 © 2013 UpToDate, Inc. All rights reserved. | Subscription and License Agreement | Release: 21.4 - C21.36 Licensed to: Southeast Alabama Med Ctr | Support Tag: [0502-201.77.166.39-9D3D6B0F7E-S244013.14]