Quantitative neuroimaging biomarkers in a series of 20 adult patients with POLG mutations

Marion Masingue, Isaac Adanyeguh, Maya Tchikviladzé, Thierry Maisonobe, Claude Jardel, Damien Galanaud, Fanny Mochel

Research output: Contribution to journalArticlepeer-review

Abstract

Mutations in the gene encoding polymerase gamma (POLG) are a common cause of mitochondrial diseases in adults. We retrospectively analyzed volumetric and diffusion tensor imaging data from 20 adult POLG-mutated patients compared to healthy controls. We used an original clinical binary load score and electroneuromyography to evaluate disease severity. Patients showed atrophy in the basal ganglia, amygdala, and brainstem (p < 0.05) compared to controls, as well as decreased fractional anisotropy (FA) in the cingulate gyrus, the internal capsule and the corona radiata (p < 0.05). Clinical scores correlated with decreased FA and increased radial diffusivity in several brain regions (p < 0.05).

Original languageEnglish (US)
Pages (from-to)22-28
Number of pages7
JournalMitochondrion
Volume45
DOIs
StatePublished - Mar 2019
Externally publishedYes

Bibliographical note

Funding Information:
MM was supported by the JNLF (Journ?es de Neurologie de langue Fran?aise) JNLF-SFN-ARSEP, 2015-2016.

Funding Information:
MM was supported by the JNLF (Journées de Neurologie de langue Française) JNLF-SFN-ARSEP, 2015-2016 .

Publisher Copyright:
© 2018 Elsevier B.V. and Mitochondria Research Society

Keywords

  • Diffusion tensor imaging
  • Polymerase gamma mutations
  • Radiological biomarker
  • Volumetry

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