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Cerebellar degeneration in the Niemann-Pick type C mouse

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Summary

Chronological morphological changes and topographical distribution of degenerating Purkinje cells were studied in the murine model of Niemann-Pick disease type C (NPC mouse). Loss of Purkinje cells can be detected in the anterior vermis as early as 60 days of age, coinciding with early neurological signs, and progressed to total absence in the entire hemisphere and vermis with exception of nodules. Ultrastructurally, concentric lamellar inclusions were detected in the perikarya of degenerating Purkinje cells as well as in the focally enlarged branching points of their dendrites. Calbindin immunocytochemistry demonstrated dendritic pathology characterized by irregular contour of dendritic trees and decreased number of dendritic spines. Ubiquitin immunoreactivity revealed granular reaction products in the perikarya, dendrites and axons of Purkinje cells. Our studies demonstrated unique pathological features of Purkinje cells that involve perikarya, dendrites and axons in the NPC mouse.

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Author notes

  1. Y. Higashi

    Present address: Department of Pathology, Kawasaki Medical College, Kurashiki, Okayama, Japan

  2. S. Murayama

    Present address: Department of Neurology, Institute of Brain Research, School of Medicine, the University of Tokyo, Tokyo, Japan

Authors and Affiliations

  1. Department of Pathology (Neuropathology), University of North Carolina, CB No. 7525, Brinkhous-Bullitt Building, 27599-7525, Chapel Hill, NC, USA

    Y. Higashi, S. Murayama & K. Suzuki

  2. Developmental and Metabolic Neurology Branch, NINDS, the National Institute of Health, Bethesda, MD, USA

    P. G. Pentchev

Authors
  1. Y. Higashi
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  2. S. Murayama
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  3. P. G. Pentchev
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  4. K. Suzuki
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Supported in party by USPHS grants NS-24453, HD-03110 and ES-01104

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Higashi, Y., Murayama, S., Pentchev, P.G. et al. Cerebellar degeneration in the Niemann-Pick type C mouse. Acta Neuropathol 85, 175–184 (1993). https://doi.org/10.1007/BF00227765

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  • DOI: https://doi.org/10.1007/BF00227765

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