Acta Neuropathologica

, Volume 21, Issue 3, pp 232–238 | Cite as

Neuroaxonal dystrophy

A case of non pigmented type and protracted course
  • Jacques Thibault
Original Investigations


A case of a slowly progressing degenerative disorder of the nervous system characterized by generalized neuroaxonal dystrophy, cerebellar atrophy and degeneration of the long fiber tracts of the spinal cord in an adult deceased of bronchopneumonia at the age of 38, is presented. Convulsive seizures had occurred in the first months of life but the true onset of the disease was approximately at the age of 12. A still living 50 year-old sister developed convulsive seizures at the age of 15 and shows actually a spino-cerebellar syndrome. Light and electron microscopic study of the central nervous tissue confirmed the presence of the abnormal structures found in primary neuroaxonal dystrophy. No abnormal pigmentation was noted in the pallidum, whereas the cells of the substantia nigra were normally pigmented. This case seems to represent either a “juvenile-adult” form of Seitelberger's disease or a non-pigmented form of Hallervorden-Spatz disease and is a strong argument in favor of a close relation between the two diseases.

Key words

Neuroaxonal Dystrophy Non Pigmented Type Hallervorden-Spatz Disease Cerebellar Atrophy 


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Copyright information

© Springer-Verlag 1972

Authors and Affiliations

  • Jacques Thibault
    • 1
  1. 1.Department of NeuropathologyHôpital St-Michel-Archange QuébecQuébec 5Canada

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