Neuronal ceroid-lipofuscinosis--late-infantile or Jansky-Bielschowsky type--revisited.
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.
Goebel
H H
HH
Division of Neuropathology, University of Mainz Medical Center, Germany.
Gerhard
L
L
Kominami
E
E
Haltia
M
M
D001921:Brain / Q000473:pathology; D004396:Coloring Agents; D049673:History, 20th Century; D006801:Humans; D008854:Microscopy, Electron; D008856:Microscopy, Fluorescence; D009472:Neuronal Ceroid-Lipofuscinoses / Q000201:enzymology / Q000266:history* / Q000473:pathology*; D009474:Neurons / Q000648:ultrastructure; D016612:Paraffin Embedding; D010336:Pathology / Q000266:history*
D004396:Coloring Agents