Acta Neuropathologica

, Volume 40, Issue 3, pp 213–218 | Cite as

Generalized giant axonal neuropathy

A filament-forming disease of neuronal, endothelial, glial, and schwann cells in a patient without kinky hair
  • Jürgen Peiffer
  • Wolfgang Schlote
  • Albert Bischoff
  • Eugen Boltshauser
  • Günter Müller
Original Investigations


The process of Giant Axonal Neuropathy (GAN) is not restricted to the peripheral nerves, but also involves the central nervous system. In a 25 year old man with normal hair, abundant axon swellings and spheroids were observed in the spinal cord, brain system, and cerebral cortex. The findings in the sural nerve have already been published by Boltshauser et al. (1977). Accumulations of filaments in the axons and in the perineural cells were accompanied by Rosenthal fibres. The ultrastructural pattern of GAN differs clearly from that of Neuroaxonal Dystrophies.

Key words

Giant axonal neuropathy Neuroaxonal dystrophies Kinky hair Rosenthal fibres Neurofilaments 


Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.


  1. Aguilar, M. J., Chadwick, D. L., Okuyama, K., Kamoshita, S.: Kinky Hair Disease. I. Clinical and Pathological Features. J. Neuropath. Exp. Neur.25, 507–522 (1966)Google Scholar
  2. Ametani, T.: Infantile Neuroaxonal Dystrophy (INAD): Light and Electron Microscopic Observation of an Autopsy Case. Neuropädiatrie1, 63–70 (1974)Google Scholar
  3. Asbury, A. K., Gale, M. K., Cox, S. C., Baringer, J. R., Berg, B. O.: Giant Axonal Neuropathy — A Unique Case with Segmental Neurofilamentous Masses. Acta neuropath. (Berl.)20, 237–247 (1972)Google Scholar
  4. Bérard-Badier, M., Gambarelli, D., Pinsard, N., Hassoun, J., Toga, M.: Infantile Neuroaxonal Dystrophy or Seitelberger's Disease. II. Peripheral Nerve Involvement: Electron Microscopic Study in one Case. Acta neuropath. (Berl.) Suppl.V, 30–39 (1971)Google Scholar
  5. Berg, B. O., Rosenberg, S. H., Asbury, A. K.: Giant Axonal Neuropathy. Pediatrics49, 894–899 (1972)Google Scholar
  6. Boltshauser, E., Bischoff, A., Isler, W.: Giant Axonal Neuropathy. Report of a Case with Normal Hair. J. Neurol. Sci.31, 269–278 (1977)Google Scholar
  7. Carpenter, St., Karpati, G., Andermann, F., Gold, R.: Giant Axonal Neuropathy. A Clinically and Morphologically Distinct Neurological Disease. Arch. Neurol.31, 312–315 (1974)Google Scholar
  8. De Coster, W., Roels, H., van der Eecken, H.: Electron Microscopical Study of Neuroaxonal Dystrophy. Case Report. Europ. Neurol.5, 65–83 (1971)Google Scholar
  9. Davenport, J. G., Farrell, D. F., Sumi, S. M.: Giant axonal neuropathy caused by industrial chemicals: Neurofilamentous axonal masses in man. Neurology (Minneap.)26, 919–923 (1976)Google Scholar
  10. Goka, T. J., Stevenson, R. E., Hefferan, P. M., Howell, R. R.: Menkes disease: A biochemical abnormality in cultured human fibroblasts. Proc. Nat. Acad. Sci. (U.S.A.)73, 604–606 (1976)Google Scholar
  11. Gonatas, N. K., Evangelista, I., Walsh, G. O.: Axonic and Synaptic Changes in a Case of Psychomotor Retardation: An Electron Microscopic Study. J. Neuropath. Exp. Neurol.26, 179–199 (1967)Google Scholar
  12. Hedley-Whyte, E. T., Gilles, F. H., Uzman, B. G.: Infantile neuroaxonal dystrophy. A disease characterized by altered terminal axons and synaptic endings. Neurology (Minn.)18, 891–906 (1968)Google Scholar
  13. Herman, M. M., Huttenlocher, P. R., Bensch, K. G.: Electron Microscopic Observations in Infantile Neuroaxonal Dystrophy. Report of a Cortical Biopsy and Review of the Recent Literature. Arch. Neurol.20, 19–34 (1969)Google Scholar
  14. Hirano, A., Llena, J. F., French, J. H., Ghatak, N. R.: Fine Structure of the Cerebellar Cortex in Menkes Kinky-Hair Disease. X-Chromosome-Linked Copper Malabsorption. Arch. Neurol.34, 52–56 (1977)Google Scholar
  15. Igishu, H., Ohta, M., Tabira, T., Hosokawa, S., Goto, I., Kuroiwa, Y.: Giant axonal neuropathy. A clinical entity affecting the central as well as the peripheral nervous system. Neurology (Minneap.)25, 717–721 (1975)Google Scholar
  16. Jedrzejowska, H., Drac, H.: Infantile Chronic Peripheral Neuropathy with Giant Axons. Report of a Case. Acte neuropath. (Berl.)37, 213–217 (1977)Google Scholar
  17. Kamoshita, S., Neustein, H. B., Landing, B. H.: Infantile Neuroaxonal Dystrophy with Neonatal Onset. Neuropathologic and Electron Microscopic Observations. J. Neuropath. Exp. Neurol.27, 300–323 (1968)Google Scholar
  18. Kopp, N., Tommasi, M., Carrier, H., Pialat, J., Gilly, J., Herve, C.: Neuropathologie de la trichopoliodystrophie (Maladie de Menkes). Une observation anatomo-clinique. Rev. Neurol. (Paris)131, 775–789 (1975)Google Scholar
  19. Martin, J. J., Martin, L.: Infantile Neuroaxonal Dystrophy. Ultrastructural Study of the Peripheral Nerves and of the Motor end Plates. Europ. Neurol.8, 239–250 (1972)Google Scholar
  20. Martin, L., Trelles, L., Martin, J. J.: Evolution Clinique de la Dystrophie Neuro-axonale Infantile à la Lumière de la Chronologie des Atrophies Systématisées Sous-jacentes. J. neurol. Sci.15, 439–455 (1972)Google Scholar
  21. Mei Liu, H., Larson, M., Mizuno, Y.: An Analysis of the Ultrastructural Findings in Infantile Neuroaxonal Dystrophy (Seitelberger's disease). Acta neuropath. (Berl.)27, 201–213 (1974)Google Scholar
  22. Møllekaer, A. M.: Kinky Hair Syndrome. Case Report. Acta Paediat. Scand.63, 289–296 (1974)Google Scholar
  23. Peiffer, J., Brunner, N., Landolt, R. F., Müller, G., Schlote, W.: Generalisierte infantile neuroaxonale Dystrophie mit Pallidum-pigmentation und-lipophanerose bei einem eineiigen Zwillingspaar. Neuropädiatrie7, 327–350 (1976)Google Scholar
  24. Peress, N. S., Kim, B.-H.: Profound Muscle Weakness Associated with Axis Cylinder Ballooning. A Case Report. Acta neuropath. (Berl.)28, 87–92 (1974)Google Scholar
  25. Prineas, J. W., Ouvrier, R. A., Wright, R. G., Walsh, J. C., McLeod, J. G.: Giant Axonal Neuropathy—A Generalized Disorder of Cytoplasmic Microfilament Formation. J. Neuropath. Exp. Neurol.35, 458–470 (1976)Google Scholar
  26. Radermecker, J., Martin, J. J.: Dystrophie neuro-axonale et maladie de Hallervorden-Spatz infantiles. Aspects électrocliniques et anatomo-pathologiques, diagnostic différentiel. Bull. Acad. Roy. Med. Belg.12, 459–502 (1972)Google Scholar
  27. Rizzuto, N., Terzian, H., Galiazzo-Rizzuto, S.: Toxic Polyneuropathies in Italy Due to Leather Cement Poisoning in Shoe Industries. A Light- and Electron-Microscopic Study. J. Neurol. Sci.31, 343–354 (1977)Google Scholar
  28. Sandbank, U., Lerman, P., Geifman, M.: Infantile Neuroaxonal Dystrophy: Cortical Axonic and Presynaptic Changes. Acta neuropath. (Berl.)16, 342–352 (1970)Google Scholar
  29. Schlote, W.: Zur Ultrastruktur der sog. Rosenthalschen Fasern im Zentralnervensystem. Naturwiss.51, 165–166 (1964)Google Scholar
  30. Sengel, A., Stoebner, P.: Intérét de la biopsie neuro-musculaire dans le diagnostic de la dystrophie neuro-axonale infantile. Etude ultrastructurale de 3 cas dont 2 familiaux. Acta neuropath. (Berl.)21, 109–116 (1972)Google Scholar
  31. Shimono, M., Ohta, M., Asada, M., Kuroiwa, Y.: Infantile Neuroaxonal Dystrophy. Ultrastructural Study of Peripheral Nerve. Acta neuropath. (Berl.)36, 71–79 (1976)Google Scholar
  32. Toga, M., Berard-Badier, M., Gambarelli-Dubois, D.: La dystrophie neuroaxonale infantile ou maladie de Seitelberger. Etude clinique, histologique et ultrastructurale de deux observations. Acta neuropath. (Berl.)15, 327–350 (1970)Google Scholar
  33. Ule, G.: Experimenteller Neurolathyrismus. Verh. dtsch. Ges. Path.45, 333–338 (1961)Google Scholar
  34. Ule, G.: Zur Ultrastruktur der ghost-cells beim experimentellen Neurolathyrismus der Ratte. Z. Zellforsch.56, 130–142 (1962)Google Scholar
  35. Ule, G.: Progressive neurogene Muskelatrophie bei neuroaxonaler Dystrophie mit Rosenthalschen Fasern. Acta neuropath. (Berl.)21, 332–339 (1972)Google Scholar
  36. Vagn, Hansen, P. L., Reske-Nielsen, E., Lou, H. Ch.: Menkes Disease—A New Leucodystrophy (?). A Clinical and Neuropathological Review Together with a New Case. Acta neuropath. (Berl.)25, 103–119 (1973)Google Scholar
  37. Wray, S. H., Kuwabara, T., Sanderon, P.: Menkes' Kinky Hair Disease: A Light and Electron Microscopic Study of the Eye. Investigative Ophthalmology St. Louis15, 128–138 (1976)Google Scholar
  38. Yagishita, S., Kimura, S.: Infantile Neuroaxonal Dystrophy (Seitelberger's Disease) Histological and Electron Microscopical Study of two Cases. Acta neuropath. (Berl.)29, 115–126 (1974)Google Scholar

Copyright information

© Springer-Verlag 1977

Authors and Affiliations

  • Jürgen Peiffer
    • 1
  • Wolfgang Schlote
    • 2
  • Albert Bischoff
    • 3
  • Eugen Boltshauser
    • 4
  • Günter Müller
    • 5
  1. 1.Institute of Brain ResearchUniversity of TübingenTübingenGermany
  2. 2.Department of Submicroscopic Pathology and NeuropathologyUniversity of TübingenTübingenGermany
  3. 3.Department of NeurologyUniversity of CH-3000 BernSwitzerland
  4. 4.Department of PediatricsUniversity of CH-8000 ZürichSwitzerland
  5. 5.Department of PathologyKantonspital CH-7000 ChurSwitzerland

Personalised recommendations