Neuronal migration abnormality in peroxisomal bifunctional enzyme defect

Walter E. Kaufmann, Christiane Theda, Sakkubai Naidu, Paul A. Watkins, Ann B. Moser, Hugo W. Moser

Research output: Contribution to journalArticlepeer-review

Abstract

Patterns of brain dysgenesis that resemble those in the Zellweger syndrome were demonstrated in a boy with an isolated defect of the peroxisomal bifunctional enzyme. There was bilateral centrosylvian pachygyria and polymicrogyria, diffuse hemispheric hypomyelination with heterotopic neurons, Purkinje cell heterotopias, and simplified convolutions of the dentate nucleus and inferior olive. This association of Zellweger syndrome-like brain dysgenesis with a defect of a single peroxisomal enzyme provides new opportunities for the study of pathogenetic mechanisms in peroxisomal disorders.

Original languageEnglish (US)
Pages (from-to)268-271
Number of pages4
JournalAnnals of neurology
Volume39
Issue number2
DOIs
StatePublished - Mar 13 1996

ASJC Scopus subject areas

  • Neurology
  • Clinical Neurology

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