Characteristic brain MRI findings in ataxia-neuropathy spectrum related to POLG mutation

Neuroradiol J. 2016 Feb;29(1):46-8. doi: 10.1177/1971400915621324. Epub 2016 Jan 11.

Abstract

Patients with mutations in the polymerase gamma gene (POLG) may present with progressive ataxia and in such situations neuroimaging findings may suggest the diagnosis. Herein we report a patient with a POLG gene W748S homozygous mutation and characteristic lesions in the thalamus, cerebellum and inferior olivary nucleus seen on magnetic resonance imaging.

Keywords: Ataxia; MRI; POLG.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Brain / pathology*
  • Brain Diseases / pathology*
  • DNA Polymerase gamma
  • DNA-Directed DNA Polymerase / genetics*
  • Diagnosis, Differential
  • Female
  • Genetic Predisposition to Disease / genetics
  • Humans
  • Mitochondrial Diseases / genetics
  • Mitochondrial Diseases / pathology
  • Mutation / genetics
  • Polymorphism, Single Nucleotide / genetics

Substances

  • DNA Polymerase gamma
  • DNA-Directed DNA Polymerase
  • POLG protein, human

Supplementary concepts

  • Ataxia Neuropathy Spectrum