Ultrastructure and electrodiagnosis of peripheral neuropathy in cockayne’s syndrome

Margaret L. Grunnet, Andrew W. Zimmerman, Richard A. Lewis

Research output: Contribution to journalArticle

Abstract

Cockayne’s syndrome is a multisystem disease that begins in infancy and is inherited as an autosomal recessive. We studied a 4-year-old girl with nystagmus, ataxia, motor weakness, peripheral neuropathy, deficient growth, and developmental delay. Nerve biopsy revealed segmental demyelination and granular lysosomal inclusions on ultrastructural examination.

Original languageEnglish (US)
Pages (from-to)1606-1609
Number of pages4
JournalNeurology
Volume33
Issue number12
StatePublished - 1983
Externally publishedYes

ASJC Scopus subject areas

  • Arts and Humanities (miscellaneous)
  • Clinical Neurology
  • Neuroscience(all)

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    Grunnet, M. L., Zimmerman, A. W., & Lewis, R. A. (1983). Ultrastructure and electrodiagnosis of peripheral neuropathy in cockayne’s syndrome. Neurology, 33(12), 1606-1609.