Journal of Neurology

, Volume 222, Issue 3, pp 183–190 | Cite as

A Golgi and ultrastructural study of a dominant form of Kufs' disease

  • I. Ferrer
  • T. Arbizu
  • J. Peña
  • J. P. Serra
Original Investigations

Summary

A cerebral biopsy from a patient with inherited dominant autosomic Kufs' disease was studied with Golgi's method and ultrastructurally. A marked PAS positive, sudanophile, autofluorescent deposit was observed in the cytoplasm and in the proximal region of the axon of neurons from the third layer. Ultrastructurally this is a granular, membrane-bound product, sometimes with a dense, compact rectilinear pattern in which the typical clear component of adult lipofuscin is scanty. Sections stained with Golgi's method show a prominent, sometimes double, axon hillock swelling without dendritic spines. These facts are compared with additional samples of Alzheimer's disease and Huntington's chorea processed in a similar way.

Key words

Kufs' disease Axon hillock swelling Neuronal storage disease Golgi's method Neuronal ceroid-lipofuscinosis 

Zusammenfassung

Die Gehirnbiopsie eines Patienten mit einer dominant autosomal erblichen Form der Kufs-Krankheit wurde mit der Golgi-Methode und elektronenmikroskopisch untersucht. PAS-positives, sudanophiles, autofluoreszierendes Material wurde vor allem im Cytoplasma sowie in den proximalen Anteilen des Axons von Neuronen der dritten Schicht nachgewiesen. Elektronenoptisch erwies sich dies als eine granuläre, an Membrane gebundene Substanz. Diese weist stellenweise eine dichte, geradlinige Struktur auf, in welcher die typischen hellen Komponenten des adulten Lipofuszins nur selten vorkommen. Schnitte, die mit der Golgi-Methode gefärbt wurden, zeigten einen gelegentlich doppelten Axonhöcker ohne Dendriten. Diese Tatsache wurde mit Fällen von Alzheimer-Krankheit und Huntington-Chorea, die in gleicher Weise verarbeitet wurden, verglichen.

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Copyright information

© Springer-Verlag 1980

Authors and Affiliations

  • I. Ferrer
    • 1
  • T. Arbizu
    • 1
  • J. Peña
    • 1
  • J. P. Serra
    • 1
  1. 1.Departamento de Anatomia Patologica (Neuropatologia) y Servicio de Neurologia, C.S. Principes de EspañaHospitalet de LLobregatEspaña

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