• Media type: E-Article
  • Title: Rett syndrome: Abnormal membrane‐bound lamellated inclusions in neurons and oligodendroglia
  • Contributor: Papadimitriou, John M.; Hockey, Athel; Tan, Noel; Masters, Colin L.; Optiz, John M.; Reynolds, James F.
  • Published: Wiley, 1988
  • Published in: American Journal of Medical Genetics, 29 (1988) 2, Seite 365-368
  • Language: English
  • DOI: 10.1002/ajmg.1320290216
  • ISSN: 0148-7299; 1096-8628
  • Origination:
  • Footnote:
  • Description: AbstractThe brain biopsy of a patient with Rett syndrome showed light microscopic evidence of white matter disease. Ultrastructurally, many neurons and oligodendroglia contained membrane‐bound electron‐dense inclusions with a distinct lamellar and granular substructure. This substructure suggests that part of these inclusions are derived from phospholipid. If confirmed in other cases of Rett syndrome, the neurochemical study of these inclusions may contribute to an understanding of this disorder.