Neuronal lipidosis and neuroaxonal dystrophy in cerebro-hepato-renal (Zellweger) syndrome

J. M. Powers, R. C. Tummons, Ann B. Moser, H. W. Moser, D. S. Huff, R. I. Kelley

Research output: Contribution to journalArticle

Abstract

Neuropathological examination of three males with cerebro-hepato-renal (Zellweger) syndrome (CHRS) revealed selective neuronal lipidosis and neuroaxonal dystrophy of the dorsal nucleus of Clarke and lateral cuneate nucleus. This lipidotic alteration was visualized as perikaryal or axonal enlargements with cytoplasmic striations. With the light microscope, the striated material was birefringent and resistant to traditional lipid stains; ultrastructurally, it was composed of lipid clefts, lamellae and lamellar-lipid profiles; biochemically, the affected region contained large amounts of cholesterol esterified to very long-chain fatty acids, both saturated and mounounsaturated. This metabolic lesion, though localized to specific sensory neurons, suggests that a more generalized defect in neuronal fatty acid metabolism may be operative in CHRS.

Original languageEnglish (US)
Pages (from-to)333-343
Number of pages11
JournalActa Neuropathologica
Volume73
Issue number4
DOIs
Publication statusPublished - Dec 1987

Keywords

  • Adreno-leukodystrophy
  • Cytoplasmic striations
  • Fatty acids
  • Neuronal migrations
  • Zellweger

ASJC Scopus subject areas

  • Neuroscience(all)
  • Pathology and Forensic Medicine
  • Clinical Neurology

Cite this

Neuronal lipidosis and neuroaxonal dystrophy in cerebro-hepato-renal (Zellweger) syndrome. / Powers, J. M.; Tummons, R. C.; Moser, Ann B.; Moser, H. W.; Huff, D. S.; Kelley, R. I.

In: Acta Neuropathologica, Vol. 73, No. 4, 12.1987, p. 333-343.

Research output: Contribution to journalArticle