Sensory ataxic neuropathy with ophthalmoparesis caused by POLG mutations

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

Research output: Contribution to journalArticle

62 Citations (Scopus)

Abstract

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
Volume18
Issue number8
DOIs
StatePublished - Aug 2008

Fingerprint

Ophthalmoplegia
Mitochondrial DNA
Mutation
Muscles
Chronic Progressive External Ophthalmoplegia
Genes
Dysarthria
Muscular Diseases
Electron Transport Complex IV
Ataxia
Deglutition Disorders
Electron Transport
Pathology
Enzymes

Keywords

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

ASJC Scopus subject areas

  • Clinical Neurology
  • Pediatrics, Perinatology, and Child Health
  • Developmental Neuroscience
  • Neurology

Cite this

Milone, M., Brunetti-Pierri, N., Tang, L. Y., Kumar, N., Mezei, M. M., Josephs, K. A., ... Wong, L. J. C. (2008). Sensory ataxic neuropathy with ophthalmoparesis caused by POLG mutations. Neuromuscular Disorders, 18(8), 626-632. https://doi.org/10.1016/j.nmd.2008.05.009

Sensory ataxic neuropathy with ophthalmoparesis caused by POLG mutations. / Milone, Margherita; Brunetti-Pierri, Nicola; Tang, Lin Ya; Kumar, Neeraj; Mezei, Michelle M.; Josephs, Keith Anthony; Powell, Suzanne; Simpson, Ericka; Wong, Lee Jun C.

In: Neuromuscular Disorders, Vol. 18, No. 8, 08.2008, p. 626-632.

Research output: Contribution to journalArticle

Milone, M, Brunetti-Pierri, N, Tang, LY, Kumar, N, Mezei, MM, Josephs, KA, Powell, S, Simpson, E & Wong, LJC 2008, 'Sensory ataxic neuropathy with ophthalmoparesis caused by POLG mutations', Neuromuscular Disorders, vol. 18, no. 8, pp. 626-632. https://doi.org/10.1016/j.nmd.2008.05.009
Milone, Margherita ; Brunetti-Pierri, Nicola ; Tang, Lin Ya ; Kumar, Neeraj ; Mezei, Michelle M. ; Josephs, Keith Anthony ; Powell, Suzanne ; Simpson, Ericka ; Wong, Lee Jun C. / Sensory ataxic neuropathy with ophthalmoparesis caused by POLG mutations. In: Neuromuscular Disorders. 2008 ; Vol. 18, No. 8. pp. 626-632.
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