Ataxia and peripheral neuropathy: A benign variant of peroxisome dysgenesis

Mia Maccollin, Darryl C. De Vivo, Ann B. Moser, Margaret Beard

Research output: Contribution to journalArticle

Abstract

A 5‐year‐old boy with panperoxisomal dysfunction is described. Clinical features included hypotonia, areflexia, and ataxia. Cognition, vision, hearing, and hepatic function were normal. A panel of peroxisomal markers, including very‐long‐chain fatty acids, phytanic acid, pipecolic acid, and catalase compartmentalization, were abnormal. This is a uniquely benign syndrome of disordered peroxisome biogenesis.

Original languageEnglish (US)
Pages (from-to)833-836
Number of pages4
JournalAnnals of neurology
Volume28
Issue number6
DOIs
StatePublished - Dec 1990

ASJC Scopus subject areas

  • Neurology
  • Clinical Neurology

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