Neuroaxonale Dystrophien

  • W. Paulus


Unter neuroaxonaler Dystrophie (NAD) versteht man lichtmikroskopisch erkennbare Auftreibungen der Axone. Da seltener auch Dendriten beteiligt sein können, ist die Bezeichnung Sphäroid (engl. “spheroid”) präziser als die Bezeichnungen „Axonkugel“, „Axonschwellung“ und „Axonscholle“.


Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.


  1. Clark A W, Parhad I M, Griffin J W, Price D L (1984) Neurofilamentous axonal swellings as a normal finding in the spinal anterior horn of man and other primates. J Neuro pathol Exp Neurol 43: 253–262Google Scholar
  2. Deisenhammer F, Willeit J, Schmidauer C, Kiechl S, Pohl P (1993) Membranöse Lipodystrophie ( Nasu-Hakola-Krankheit ). Nervenarzt 64: 263–265PubMedGoogle Scholar
  3. Donaghy M, King R H M, Thomas P K, Workman J M (1988) Abnormalities of the axonal cytoskeleton in giant axonal neuropathy. J Neurocytol 17: 197–208PubMedCrossRefGoogle Scholar
  4. Farina L, Nardocci N, Bruzzone M G etal. (1999) Infantile neuroaxonal dystrophy: neuroradiological studies in 11 patients. Neuroradiology 41: 376–380PubMedCrossRefGoogle Scholar
  5. Ferreira R C, Mierau G W, Bateman J B (1997) Conjunctival biopsy in infantile neuroaxonal dystrophy. Am J Ophthalmol 123: 264–266PubMedGoogle Scholar
  6. Flanigan K M, Crawford T O, Griffin J W etal. (1998) Localization of the giant axonal neuropathy gene to chromosome 16q24. Ann Neurol 43: 143–148PubMedCrossRefGoogle Scholar
  7. Gaytan-Garcia S, Kaufmann J C E, Young G B (1990) Adult onset Hallervorden-Spatz syndrome or Seitelberger’s disease with late onset: variants of the same entity? Clin Neuro-pathol 9: 136–142Google Scholar
  8. Gilman S, Barrett R E (1973) Hallervorden-Spatz disease and infantile neuroaxonal dystrophy. Clinical characteristics and nosological considerations. J Neurol Sci 19: 189–205PubMedCrossRefGoogle Scholar
  9. Goebel H H (1999) Extracerebral biopsies in neurodegenerative diseases of childhood. Brain Dev 21: 435–443PubMedCrossRefGoogle Scholar
  10. Hayashi S, Akasaki Y, Morimura Y, Takauchi S, Sato M, Miyoshi K (1992) An autopsy case of late infantile and juvenile neuroaxonal dystrophy with diffuse Lewy bodies and neurofibrillary tangles. Clin Neuropathol 11: 1–5PubMedGoogle Scholar
  11. Hayflick S J (ed) (2001) First scientific workshop on Hallervorden-Spatz syndrome. Ped Neurol 25: 99–174Google Scholar
  12. Jellinger K, Jiräsek A (1971) Neuroaxonal dystrophy in man: character and natural history. Acta Neuropathol (Suppl V): 3–16Google Scholar
  13. Keulemans J L, Reuser A J, Kroos M A etal. (1996) Human alpha-N-acetylgalactosaminidase (alpha-NAGA) deficiency: new mutations and the paradox between genotype and phenotype. J Med Genet 33: 458–464PubMedCrossRefGoogle Scholar
  14. Lampert P W (1967) A comparative electron microscopic study of reactive, degenerating, regenerating, and dystrophic axons. J Neuropathol Exp Neurol 26: 345–368PubMedCrossRefGoogle Scholar
  15. Matsuyama H, Watanabe I, Mihm M C, Richardson E P Jr (1978) Dermatoleukodystrophy with neuroaxonal spheroids. Arch Neurol 35: 329–336PubMedGoogle Scholar
  16. Nardocci N, Zorzi G, Farina L etal. (1999) Infantile neuroaxonal dystrophy: clinical spectrum and diagnostic criteria. Neurology 52: 1472–1478PubMedGoogle Scholar
  17. Newell K L, Boyer P, Gomez-Tortosa E etal. (1999) Alpha-synuclein immunoreactivity is present in axonal swellings in neuroaxonal dystrophy and acute traumatic brain injury. J Neuropathol Exp Neurol 58: 1263–1268PubMedCrossRefGoogle Scholar
  18. Ouvrier R A (1989) Giant axonal neuropathy. A review. Brain Dev 11: 207–214PubMedGoogle Scholar
  19. Peiffer J, Schlote W, Bischoff A, Boltshauser E, Müller G (1977) Generalized giant axonal neuropathy. Acta Neuropathol 40: 213–218PubMedCrossRefGoogle Scholar
  20. Pettigrew A L, Jackson L G, Ledbetter D H (1991) New X-linked mental retardation disorder with Dandy-Walker malformation, basal ganglia disease, and seizures. Am J Med Genet 38: 200–207PubMedCrossRefGoogle Scholar
  21. Rees H, Ang L C, Casey R, George D H (1995) Association of infantile neuroaxonal dystrophy and osteopetrosis: a rare autosomal recessive disorder. Pediatr Neurosurg 22: 321–327PubMedCrossRefGoogle Scholar
  22. Schmidt R E, Chae H Y, Parvin C A, Roth K A (1990) Neuroaxonal dystrophy in aging human sympathetic ganglia. Am J Pathol 136: 1327–1338PubMedGoogle Scholar
  23. Schmidt R E, Dorsey D, Parvin C A, Beaudet L N, Plurad S B, Roth K A (1997) Dystrophic axonal swellings develop as a function of age and diabetes in human dorsal root ganglia. J Neuropathol Exp Neurol 56: 1028–1043PubMedCrossRefGoogle Scholar
  24. Seitelberger F (1986) Neuroaxonal dystrophy: its relation to aging and neurological diseases. In: Vinken P J, Bruyn G W, Klawans H L (eds) Handbook of clinical neurology, vol 5. Elsevier, Amsterdam, pp 391–415Google Scholar
  25. Simonati A, Trevisan C, Salviati A, Rizzuto N (1999) Neuroaxonal dystrophy with dystonia and pallidal involvement. Neuropediatrics 30: 151–154PubMedCrossRefGoogle Scholar
  26. Southam E, Thomas P K, King R H M, Goss-Sampson M A, Muller D P R (1991) Experimental vitamin E deficiency in rats. Morphological and functional evidence of abnormal axonal transport secondary to free radical damage. Brain 114: 915–936PubMedCrossRefGoogle Scholar
  27. Tandan R, Bradley W G, Fillyaw M J (1990) Giant axonal neuropathy: studies with sulfhydryl donor compounds. J Neurol Sci 95: 153–162PubMedCrossRefGoogle Scholar
  28. Thomas C, Love S, Powell H C, Schultz P, Lampert P W (1987) Giant axonal neuropathy: correlation of clinical findings with postmortem neuropathology. Ann Neurol 22: 79–84PubMedCrossRefGoogle Scholar
  29. Van der Knaap M S, Naidu S, Kleinschmidt-DeMasters B K, Kamphorst W, Weinstein H C (2000) Autosomal-dominant diffuse leukoencephalopathy with neuroaxonal spheroids. Neurology 54: 463–468PubMedGoogle Scholar
  30. Wakabayashi K, Fukushima T, Koide R etal. (2000) Juvenile-onset generalized neuroaxonal dystrophy ( Hallervorden-Spatz disease) with diffuse neurofibrillary and Lewy body pathology. Acta Neuropathol 99: 331–336Google Scholar
  31. Williams D J, Ironside J W (1989) Liver and pituitary abnormalities in Hallervorden-Spatz disease. J Neurol Neurosurg Psychiatry 52: 1410–1414PubMedCrossRefGoogle Scholar
  32. Wolfe D E, Schindler D, Desnick R J (1995) Neuroaxonal dystrophy in infantile alpha-N-acetylgalactosaminidase deficiency. J Neurol Sci 132: 44 - 56PubMedCrossRefGoogle Scholar
  33. Zhou B, Westaway S K, Levinson B etal. (2001) A novel pantothenate kinase gene (PANK2) is defective in Hallervorden-Spatz syndrome. Nat Genet 28: 345–349PubMedCrossRefGoogle Scholar

Copyright information

© Springer-Verlag Berlin Heidelberg 2002

Authors and Affiliations

  • W. Paulus

There are no affiliations available

Personalised recommendations