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Giant axonal neuropathy

A neuropathological study

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Summary

Giant axonal neuropathy (GAN) is a disease characterized by a slowly progressive neuropathy and signs of central involvement, manifested by visual impairment, corticospinal tract dysfunction, ataxia, and dementia. Pathological hallmarks of the disease include axonal swellings packed with neurofilaments in both peripheral and central nervous systems, and accumulations of intermediate filaments in Schwann cells, fibroblasts, melanocytes, endothelial, and Langerhans cells. Rosenthal fibers, sometimes appearing in masses and mimicking Alexander's disease, emerge as a conspicuous characteristic in longstanding GAN.

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References

  • Alexander WS (1949) Progressive fibrinoid degeneration of fibrillary astrocytes associated with mental retardation in a hydrocephalic infant. Brain 72:373–381

    Google Scholar 

  • Ametani T (1973) Rosenthalsche Fasern im Gollschen Kern. Acta Neuropathol (Berl) 24:90–91

    Google Scholar 

  • Asbury AK, Gale MK, Cox SC, Baringer JR, Berg BO (1972) Giant axonal neuropathy — a unique case with segmental neurofilamentous masses. Acta Neuropathol (Berl) 20:237–297

    Google Scholar 

  • Berg BO, Rosenberg SH, Asbury AK (1972) Giant axonal neuropathy. Pediatrics 49:894–899

    Google Scholar 

  • Berg BO (1987) Giant axonal neuropathy. In: Gomez M (ed) Neurocutaneous disorders. Butterworths, London (in press)

    Google Scholar 

  • Boltshauser E, Bischoff A, Isler W (1977) Giant axonal neuropathy. Report of a case with normal hair. J Neurol Sci 31:269–278

    Google Scholar 

  • Deck JH, Eng LF, Bigbee J, Woodcock SM, (1978) The role of glial fibrillary acidic protein in the diagnosis of central nervous system tumors. Acta Neuropathol (Berl) 42:183–190

    Google Scholar 

  • Dubeau F, Michaud J, Lamarre L, Larbrisseau A (1985) Giant axonal neuropathy: a complete autopsy study. J Neuropathol Exp Neurol 44:355

    Google Scholar 

  • Fois A, Balestri P, Farnetani MA, Berardi R, Mattei R, Laurenzi E, Alessandrini C, Gerli R, Ribuffo A, Calvieri S (1985) Giant axonal neuropathy. Endocrinological and histologic studies. Eur J Pediatr 144:274–280

    Google Scholar 

  • Gambarelli D, Hassoun J, Pellisier JF, Livet MO, Pinsard N, Toga M (1977) Giant axonal neuropathy. Involvement of peripheral nerve, myenteric plexus and extra-neural area. Acta Neuropathol (Berl) 39:261–269

    Google Scholar 

  • Gawlitta W, Osborn M, Weber K (1981) Coiling of intermediate filaments induced by microinjection of vimentin-specific antibody does not interfere with locomotion and mitosis. Eur J Cell Biol 26:83–90

    Google Scholar 

  • Goldman RD (1971) The role of three cytoplasmic fibers in BHK-21 cell motility: I. Microtubules and the effects of colchicine. J Cell Biol 51:752–762

    Google Scholar 

  • Herndon RM, Rubinstein LJ, Freeman JM, Mathieson G (1970) Light and electron microscopic observations on Rosenthal fibers in Alexander's disease and in multiple sclerosis. J Neuropathol Exp Neurol 29:524–551

    Google Scholar 

  • Igisu H, Ohta M, Tabira T, Hosokawa S, Goto I, Kuroiwa Y (1975) Giant axonal neuropathy. A clinical entity affecting the central as well as the peripheral nervous system. Neurology 25:717–721

    Google Scholar 

  • Ionaseceu V, Searby C, Rubinstein P, Sandra A, Cancilla P, Robillard J (1983) Giant axonal neuropathy: normal protein composition of neurofilaments. J Neurol Neurosurg Psychiatry 46:551–554

    Google Scholar 

  • Ishikawa H, Bischoff R, Holtzer H (1968) Mitosis and intermediate-sized filaments in developing skeletal muscle. J Cell Biol 38:538–555

    Google Scholar 

  • Janzer CR, Friede RL (1981) Do Rosenthal fibers contain glial fibrillary acid protein? Acta Neuropathol (Berl) 55:75–76

    Google Scholar 

  • Jedrzejowska H, Drac H (1977) Infantile chronic peripheral neuropathy with giant axons. Report of a case. Acta Neuropathol (Berl) 37:213–217

    Google Scholar 

  • Jones MZ, Nigro MA, Barre PS (1979) Familial “Giant axonal neuropathy”. J Neuropathol Exp Neurol 38:324 [abstr]

    Google Scholar 

  • Kinney RB, Gottfried MR, Hodson AK, Autillio-Gambetti L, Graham DG (1985) Congenital giant axonal neuropathy. Arch Pathol Lab Med 109:639–641

    Google Scholar 

  • Klymkowsy MW (1981) Intermediate filaments collapse in 3T3 cells after the intracellular injection of a monoclonal antiintermediate filament antibody. Nature 291:240–251

    Google Scholar 

  • Klymkowsy MW, Plummer DJ (1985) Giant axonal neuropathy: a conditional mutation affecting cytoskeletal organization. J Cell Biol 100:245–250

    Google Scholar 

  • Koch TK, Schultz P, Williams R, Lampert P (1977) Giant axonal neuropathy: A childhood disorder of microfilaments. Ann Neurol 1:438–451

    Google Scholar 

  • Lin JJ, Feramisco JR (1981) Disruption of the in vivo distribution of intermediate filaments in fibroblasts through the microinjection of a specific monoclonal antibody. Cell 24:185–193

    Google Scholar 

  • Marsden HB, Kumar S, Kahn J, Anderton BJ (1983) A study of glial fibrillary acidic protein (GFAP) in childhood brain tumors. Int J Cancer 31:439–445

    Google Scholar 

  • Mizuno Y, Otsuka S, Takano Y, Suzuki Y, Hosaka A, Kaga M, Segawa M (1979) Giant axonal neuropathy. Combined Central and peripheral nervous system disease. Arch Neurol 36:107–108

    Google Scholar 

  • Ouvrier RA, Prineas J, Walsh JC, Reye RD, McLeod JG (1974) Giant axonal neuropathy — a third case. Proc Aust Assoc Neurol 11:137–144

    Google Scholar 

  • Papsozomenos SC (1983) Glial fibrillary acidic (GFA) protein-containing cells in the human pineal gland. J Neuropathol Exp Neurol 42:391–408

    Google Scholar 

  • Pena SD (1982) Giant axonal neuropathy: an inborn error of organization of intermediate filaments. Muscle Nerve 5:166–172

    Google Scholar 

  • Pfeiffer J, Schlote W, Bischoof A, Boltshauser E, Mueller G (1977) Generalized giant axonal neuropathy: a filament-forming disease of neuronal, endothelial, glial, and Schwann cells in a patient without kinky hair. Acta Neuropathol (Berl) 40:213–218

    Google Scholar 

  • Prineas JW, Ouvrier RA, Wright RG, Walsh JC, McLeod JG (1976) Giant axonal neuropathy — a generalized disorder of cytoplasmic microfilament formation. J Neuropathol Exp Neurol 35:458–470

    Google Scholar 

  • Russell DS, Rubinstein LJ (1972) Pathology of tumors of the nervous system, 4th edn. Arnold, London pp 178–310

    Google Scholar 

  • Schlote W (1966) Rosenthalsche „Fasern” und Spongioblasten im Zentralnervensystem. I. Vorkommen in ventrikelfernen Reparationsgliosen; Darstellbarkeit der Fasern im Zellbild. Beitr Pathol Anat Allg Pathol 133:225–248

    Google Scholar 

  • Seil FJ, Lampert J (1968) Neurofibrillary tangles induced by vincristine and vinblastine sulfate in central and peripheral neurons in vitro. Exp Neurol 21:219–230

    Google Scholar 

  • Steinert PM, Idler WW, Goldman RD (1980) Intermediate filaments of baby hamster kidney (BHK-2) cells and bovine epidermal keratinocytes have similar ultrastructures and subunit domain structures. Proc Natl Acad Sci USA 77:4534–4538

    Google Scholar 

  • Takebe Y, Koida N, Takahashi G (1981) Giant axonal neuropathy. Report of two siblings with endocrinological and histological studies. Neuropediatrics 12:392–404

    Google Scholar 

  • Thomas GP, Welch WJ, Matthews MB, Feramiseo JR (1982) Molecular and cellular effects of heat-shock and related treatments on mammalian tissue-culture cells. Cold Spring Harbor Symp Quant Biol 46:985–996

    Google Scholar 

  • Towfighi J, Young R, Sassami J, Ramer J, Horoupian DS (1983) Alexander's disease: futher light and electron microscopic findings. Acta Neuropathol (Berl) 61:36–42

    Google Scholar 

  • Van der Meulen JDM, Houthoff HJ, Ebels EJ (1978) Glial fibrillary acidic protein in human gliomas. Neuropathol Appl Neurobiol 14:177–190

    Google Scholar 

  • Velasco ME, Dahl D, Roersmann H, Gambetti P (1980) Immunohistochemical localization of glial fibrillary acidic protein in human glial neoplasms. Cancer 45:484–494

    Google Scholar 

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Authors and Affiliations

  1. Department of Pathology (Neuropathology), University of California Medical Center, 94143-0106, San Francisco, CA, USA

    H. A. Kretzschmar & R. L. Davis

  2. Department of Neurology, University of California Medical Center, 94143-0106, San Francisco, CA, USA

    B. O. Berg

  3. Department of Pediatrics (Child Neurology), University of California Medical Center, 94143-0106, San Francisco, CA, USA

    B. O. Berg

  4. Institut für Molekularbiologie I, Universität Zürich, CH-8073, Zürich, Switzerland

    H. A. Kretzschmar

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  1. H. A. Kretzschmar
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  2. B. O. Berg
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  3. R. L. Davis
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Supported by a grant from the National Institutes of Health (NS 22786)

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Kretzschmar, H.A., Berg, B.O. & Davis, R.L. Giant axonal neuropathy. Acta Neuropathol 73, 138–144 (1987). https://doi.org/10.1007/BF00693779

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