Sensory ataxic neuropathy with ophthalmoparesis caused by POLG mutations

Margherita Milone, Nicola Brunetti-Pierri, Lin Ya Tang, Neeraj Kumar, Michelle M. Mezei, Keith Josephs, Suzanne Powell, Ericka Simpson, Lee Jun C. Wong

Research output: Contribution to journalArticlepeer-review

66 Scopus citations


Mutations in POLG gene are responsible for a wide spectrum of clinical disorders with altered mitochondrial DNA (mtDNA) integrity, including mtDNA multiple deletions and depletion. Sensory ataxic neuropathy with ophthalmoparesis (SANDO) caused by mutations in POLG gene, fulfilling the clinical triad of sensory ataxic neuropathy, dysarthria and/or dysphagia and ophthalmoparesis, has described in a few reports. Here we described five cases of adult onset autosomal recessive sensory ataxic neuropathy with ophthalmoplegia. All patients had ataxia, neuropathy, myopathy, and progressive external ophthalmoplegia (PEO). The muscle pathology revealed ragged-red and cytochrome c oxidase (COX) negative fibers in three patients. However, deficiencies in the activities of mitochondrial respiratory chain enzyme complexes were not detected in any of the patients' muscle samples. Multiple deletions of mtDNA were detected in blood and muscle specimens but mtDNA depletion was not found. Due to these diagnostic difficulties, POLG-related syndromes are definitively diagnosed based on the presence of deleterious mutations in the POLG gene.

Original languageEnglish (US)
Pages (from-to)626-632
Number of pages7
JournalNeuromuscular Disorders
Issue number8
StatePublished - Aug 2008


  • DNA polymerase gamma
  • POLG mutations
  • Sensory ataxia
  • arPEO
  • mtDNA multiple deletions

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Neurology
  • Clinical Neurology
  • Genetics(clinical)


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