Additive effects of POLG1 and ANT1 mutations in a complex encephalomyopathy

Giuliana Galassi, Eleonora Lamantea, Federica Invernizzi, Federica Tavani, Isabella Pisano, Ileana Ferrero, Luigi Palmieri, Massimo Zeviani

Research output: Contribution to journalArticle

Abstract

MtDNA instability is associated with a wide spectrum of clinical presentations, from dominant or recessive progressive external ophthalmoplegia (PEO) to juvenile-onset spino-cerebellar ataxia and epilepsy (SCAE) or infantile Alpers-Huttenlocher syndrome. We present here the clinical and molecular features of a patient with a clinical presentation characterized initially by PEO with mtDNA multiple deletions lately evolving into a severe neurological syndrome, which included sensory and cerebellar ataxia, peripheral neuropathy, parkinsonism, and depression. This complex phenotype is the result of mutations in two distinct proteins, ANT1 and PolγA, which cause additive, deleterious effects on mtDNA maintenance and integrity.

Original languageEnglish
Pages (from-to)465-470
Number of pages6
JournalNeuromuscular Disorders
Volume18
Issue number6
DOIs
Publication statusPublished - Jun 2008

Keywords

  • ANT1
  • Mitochondrial DNA
  • mtDNA multiple deletions
  • POLG1
  • Progressive external ophthalmoplegia
  • Sensory-cerebellar ataxia

ASJC Scopus subject areas

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

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    Galassi, G., Lamantea, E., Invernizzi, F., Tavani, F., Pisano, I., Ferrero, I., Palmieri, L., & Zeviani, M. (2008). Additive effects of POLG1 and ANT1 mutations in a complex encephalomyopathy. Neuromuscular Disorders, 18(6), 465-470. https://doi.org/10.1016/j.nmd.2008.03.013