Early onset Alexander disease: A case report with evidence for manifestation of the disorder in neurohypophyseal pituicytes

Clinical Neuropathology

Volumn 27, Issue 2, 2008, Pages 64-71

  Matej, R ^a   Dvorakova L ^b   Mrazova L ^b   Houst'kova H ^c   Elleder, M ^b,c  

^a Thomayer's University Hospital   (Czech Republic)

^b CHARLES UNIVERSITY   (Czech Republic)

^c Charles University in Prague and General University Hospital in Prague   (Czech Republic)

Author keywords

Alexander disease; GFAP aggregates; Pituicytes

Indexed keywords

ANTICONVULSIVE AGENT; GLIAL FIBRILLARY ACIDIC PROTEIN;

ALEXANDER DISEASE; ARTICLE; AUTOPSY; CASE REPORT; CHILD; CHILD DEATH; CLINICAL FEATURE; COMPUTER ASSISTED TOMOGRAPHY; DISEASE COURSE; DNA DETERMINATION; GENE MUTATION; HUMAN; HUMAN TISSUE; HYPOPHYSIS CELL; INFANT; LABORATORY TEST; NEUROHYPOPHYSIS; NEUROPATHOLOGY; NUCLEOTIDE SEQUENCE; PHYSICAL EXAMINATION; PRIORITY JOURNAL; SEIZURE;

EID: 41149094147     PISSN: 07225091     EISSN: None     Source Type: Journal    
DOI: 10.5414/npp27064     Document Type: Article

References (25)

1. Alexander WS. Progressive fibrinoid degeneration of fibrillary astrocytes associated with mental retardation in a hydrocephalic infant. Brain. 1949; 72: 373-381.
2. Brenner M, Johnson AB, Boespflug-Tanguy O, Rodriguez D, Goldman JE, Messing A. Mutations in GFAP, encoding glial fibrillary acidic protein, are associated with Alexander disease. Nat Genet. 2001; 27: 117-120.
3. Brockmann K, Dechent P, Meins M, Haupt M, Sperner J, Stephani U, Frahm J, Hanefeld F. Cerebral proton magnetic resonance spectroscopy in infantile Alexander disease. J Neurol. 2003; 250: 300-306.
4. Egerbacher M, Franz P, Bock P. Expression of glial and neuronal marker proteins (S-100, glial fibrillary acidic protein, and neuron-specific enolase) by myxoid cells in the human larynx. Eur Arch Otorhinolaryngol. 1997; 254: 449-452.
5. Goldman JE Alexander disease. In: Golden JA, Harding BN (eds). Pathology and genetics. Developmental neuropathology. Basel: ISN Neuropathol Press; 2004. p. 331-336.
6. Gorospe JR, Naidu S, Johnson AB, Puri V, Raymond GV, Jenkins SD, Pedersen RC, Lewis D, Knowles P, Fernandez R, De Vivo D, van der Knaap MS, Messing A, Brenner M, Hoffman EP. Molecular findings in symptomatic and pre-symptomatic Alexander disease patients. Neurology. 2002; 58: 1494-1500.
7. Gould VE, Moll R, Moll I, Lee I, Schwechheimer K, Franke WW. The intermediate filament complement of the spectrum of nerve sheath neoplasms. Lab Invest. 1986; 55: 463-474.
8. Harding BN, Surtees R. Metabolic and neurodegenerative diseases of childhood. In: Graham DI, Lantos PL (eds). Greenfield's Neuropathology. London: Arnold; 2002. p. 491-494.
9. Head MW, Corbin E, Goldman JE. Overexpression and abnormal modification of the stress proteins αB-crystallin and HSP27 in Alexander disease. Am J Pathol. 1993; 143: 1743-1753.
10. Iwaki T, Kume-Iwaki A, Liem RK, Goldman JE. αB-crystallin is expressed in nonlenticular tissues and accumulates in Alexander's disease brain. Cell. 1989; 57: 71-78.
11. Johnson AB. Alexander disease: a leukodystrophy caused by a mutation in GFAP. Neurochem Res. 2004; 29: 961-964.
12. Johnson AB, Brenner M. Alexander's disease: clinical, pathologic, and genetic features. J Child Neurol. 2003; 18: 625-632.
13. Kingsley PB, Shah TC, Woldenberg R. Identification of diffuse and focal brain lesions by clinical magnetic resonance spectroscopy. NMR Biomed. 2006; 19: 435-462.
14. Li R, Johnson AB, Salomons G, Goldman JE, Naidu S, Quinlan R, Cree B, Ruyle SZ, Banwell B, D'Hooghe M, Siebert JR, Rolf CM, Cox H, Reddy A, Gutierrez-Solana LG, Collins A, Weller RO, Messing A, van der Knaap MS, Brenner M. Glial fibrillary acidic protein mutations in infantile, juvenile, and adult forms of Alexander disease. Ann Neurol. 2005; 57: 310-326.
15. Li R, Johnson AB, Salomons GS, van der Knaap MS, Rodriguez D, Boespflug-Tanguy O, Gorospe JR, Goldman JE, Messing A, Brenner M. Propensity for paternal inheritance of de novo mutations in Alexander disease. Hum Genet. 2006; 119: 137-144.
16. Li R, Messing A, Goldman JE, Brenner M. GFAP mutations in Alexander disease. Int J Dev Neurosci. 2002; 20: 259-268.
17. Messing A, Goldman JE, Johnson AB, Brenner M. Alexander disease: new insights from genetics. J Neuropathol Exp Neurol. 2001; 60: 563-573.
18. Mignot C, Boespflug-Tanguy O, Gelot A, Dautigny A, Pham-Dinh D, Rodriguez D. Alexander disease: putative mechanisms of an astrocytic encephalopathy. Cell Mol Life Sci. 2004; 61: 369-385.
19. Ni Q, Johns GS, Manepalli A, Martin DS, Geller TJ. Infantile Alexander's disease: serial neuroradiologic findings. J Child Neurol. 2002; 17: 463-466.
20. Suess U, Pliska V. Identification of the pituicytes as astroglial cells by indirect immunofluorescence-staining for the glial fibrillary acidic protein. Brain Res. 1981; 221: 27-33.
21. Takei Y, Seyama S, Pearl GS, Tindall GT. Ultrastructural study of the human neurohypophysis. II. Cellular elements of neural parenchyma, the pituicytes. Cell Tissue Res. 1980; 205: 273-287.
22. Tomokane N, Iwaki T, Tateishi J, Iwaki A, Goldman JE. Rosenthal fibers share epitopes with αB-crystallin, glial fibrillary acidic protein, and ubiquitin, but not with vimentin. Immunoelectron microscopy with colloidal gold. Am J Pathol. 1991; 138: 875-885.
23. Townsend JJ, Wilson JF, Harris T, Coulter D, Fife R. Alexander's disease. Acta Neuropathol (Berl). 1985; 67: 163-166.
24. van der Knaap MS, Ramesh V, Schiffmann R, Blaser S, Kyllerman M, Gholkar A, Ellison DW, van der Voorn JP, van Dooren SJ, Jakobs C, Barkhof F, Salomons GS. Alexander disease: ventricular garlands and abnormalities of the medulla and spinal cord. Neurology. 2006; 66: 494-498.
25. Van Nassauw L, Harrisson F, Cras P, Callebaut M. Immunohistochemical localization of S100 protein, glial fibrillary acidic protein, and neuron-specific enolase in the pars distalis of quail, rat, and human hypophyses. Histochemistry. 1987; 86: 353-358.