Acta Neuropathologica

, Volume 77, Issue 1, pp 91–94 | Cite as

Chromatolytic neurons in Werdnig-Hoffmann disease contain phosphorylated neurofilaments

  • C. F. Lippa
  • T. W. Smith
Regular Papers


Two cases of Werdnig-Hoffman disease are described. Chromatolytic neurons were found within the ventral horns of the spinal cord as well as in dorsal root ganglia, Clarke's column, cranial nerve nuclei and thalamus. Immunohistochemical staining demonstrated ohosphorylated neurofilament antigen within the cytoplasm of the chromatolytic neurons. This finding suggests that a defect in slow axonal transport or in the regulation of neurofilament phosphorylation may play a role in the pathogenesis of this disorder.

Key words

Chromatolytic neurons Werdnig-Hoffmann disease Immunocytochemistry Phosphorylated neurofilament Sudden infant death syndrome (SIDS) 


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  1. 1.
    Chou SM, Nonaka I (1978) Werdnig-Hoffman disease: proposal of a pathogenetic mechanism. Acta Neuropathol (Berl) 41:45–54Google Scholar
  2. 2.
    Dickson DW, Yen SH, Suzuki KI, Davies P, Garcia JH, Hirano A (1986) Ballooned neurons in select neurodegenerative diseases contain phosphorylated neurofilament epitopes. Acta Neuropathol (Berl) 71:216–223Google Scholar
  3. 3.
    Menkes JH (1985) Textbook of child neurology, 3rd edn. Lea & Febiger, Philadelphia, pp 677–682Google Scholar
  4. 4.
    Munoz DG, Greene C, Perl DP, Selkoe DJ (1988) Accumulation of phosphorylated neurofilaments in anterior horn motoneurons of amyotrophic lateral sclerosis patients. J Neuropathol Exp Neurol 47:9–18Google Scholar
  5. 5.
    Peress NS, Sternmann AB, Miller R, Kaplan CG, Little BW (1986) “Chromatolytic” neurons in lateral geniculate body in Werdnig-Hoffman disease. Clin Neuropathol 5:69–72Google Scholar
  6. 6.
    Schmidt ML, Carden MJ, Lee VM-Y, Trojanowski JQ (1987) Phosphate dependent and independent neurofilament epitopes in the axonal swellings of patients with motor neuron disease and controls. Lab Invest 56:282–294Google Scholar
  7. 7.
    Shishikura K, Hara M, Sasaki Y, Misugi K (1983) A neuropathologic study of Werdnig-Hoffman disease with special reference to the thalamus and posterior roots. Acta Neuropathol (Berl) 60:99–106Google Scholar
  8. 8.
    Steinman GS, Rorke LB, Brown MJ (1980) Infantile neuronal degeneration masquerading as Werdnig-Hoffman disease. Ann Neurol 8:317–324Google Scholar
  9. 9.
    Sternberger LA (1979) Immunocytochemistry, 2nd edn. Wiley, New York, pp 87–117Google Scholar
  10. 10.
    Towfighi J, Young RS, Ward RM (1985) Is Werdnig-Hoffman disease a pure lower motor neuron disorder? Acta Neuropathol (Berl) 65:270–280Google Scholar
  11. 11.
    Wiley CA, Love S, Skoglund RR, Lampert PW (1987) Infantile neurodegenerative disease with neuronal accumulation of phosphorylated neurofilaments. Acta Neuropathol (Berl) 72:369–376Google Scholar

Copyright information

© Springer-Verlag 1988

Authors and Affiliations

  • C. F. Lippa
    • 1
  • T. W. Smith
    • 1
  1. 1.Departments of Pathology (Neuropathology) and NeurologyUniversity of Massachusetts Medical CenterWorcesterUSA

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