Sensory ataxic neuropathy as the presenting feature of a novel mitochondrial disease

R. Fadic, J. A. Russell, V. V. Vedanarayanan, M. Lehar, R. W. Kuncl, D. R. Johns

Research output: Contribution to journalArticlepeer-review

Abstract

Four unrelated patients presented with a severe sensory ataxic neuropathy in association with dysarthria and chronic progressive external ophthalmoplegia. Electrophysiologic and pathologic studies showed severe axonal loss disproportionately affecting sensory nerves. Molecular genetic analysis revealed multiple mitochondrial DNA deletions in muscle and peripheral nerve. Sensory ataxic neuropathy may be the predominant and presenting manifestation of a mitochondrial disorder, and a mitochondrial etiology should be included in its differential diagnosis. The trial of sensory ataxic neuropathy, dysarthria, and ophthalmoparesis (SANDO) may represent a novel mitochondrial disease associated with multiple mitochondrial DNA deletions.

Original languageEnglish (US)
Pages (from-to)239-245
Number of pages7
JournalNeurology
Volume49
Issue number1
DOIs
StatePublished - Jul 1997

ASJC Scopus subject areas

  • Clinical Neurology

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