Neuronal ceroid-lipofuscinosis--late-infantile or Jansky-Bielschowsky type--revisited

Brain Pathol. 1996 Jul;6(3):225-8. doi: 10.1111/j.1750-3639.1996.tb00850.x.

Abstract

The tissues from three patients with late-infantile NCL originally described by Max Bielschowsky became available to apply modern techniques such as fluorescence microscopy, electron microscopy and immunohistochemistry. While regular tinctorial preparations of the tissues documented a neuronal storage disorder in all three patients' tissues, the accumulated material proved to be autofluorescent, showed the ultrastructure of curvilinear lipopigments, and reacted strongly with an antibody against the subunit-C of mitochondrial ATP synthase, a major component of lipopigments in NCL and also with an antibody against sphingolipid activator proteins. Thus, these modern morphological techniques demonstrated that the originally described three siblings with late-infantile "amaurotic familial idiocy" really had neuronal ceroid-lipofuscinosis of the late-infantile or Jansky-Bielschowsky type, according to current diagnostic criteria. This type of archival study may also contribute to the mosaic of medical history.

Publication types

  • Historical Article
  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Brain / pathology
  • Coloring Agents
  • History, 20th Century
  • Humans
  • Microscopy, Electron
  • Microscopy, Fluorescence
  • Neuronal Ceroid-Lipofuscinoses / enzymology
  • Neuronal Ceroid-Lipofuscinoses / history*
  • Neuronal Ceroid-Lipofuscinoses / pathology*
  • Neurons / ultrastructure
  • Paraffin Embedding
  • Pathology / history*

Substances

  • Coloring Agents