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

doi:10.1016/j.mito.2018.02.001

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

Mitochondrion. 2019 Mar:45:22-28. doi: 10.1016/j.mito.2018.02.001. Epub 2018 Feb 21.

Authors

Marion Masingue¹, Isaac Adanyeguh², Maya Tchikviladzé³, Thierry Maisonobe⁴, Claude Jardel⁵, Damien Galanaud⁶, Fanny Mochel⁷

Affiliations

¹ Sorbonne Université, UPMC-Paris 6, UMR S 1127 and Inserm U 1127, and CNRS UMR 7225, and Institut du Cerveau et de la Moelle épinière, F-75013, Paris, France; AP-HP, Pitié-Salpêtrière University Hospital, Department of Neurology, Paris, France.
² Sorbonne Université, UPMC-Paris 6, UMR S 1127 and Inserm U 1127, and CNRS UMR 7225, and Institut du Cerveau et de la Moelle épinière, F-75013, Paris, France.
³ AP-HP, Pitié-Salpêtrière University Hospital, Department of Neurology, Paris, France. Electronic address: [email protected].
⁴ APHP, Pitié-Salpêtrière University Hospital, Department of Neurophysiology, Paris, France. Electronic address: [email protected].
⁵ AP-HP, Pitié-Salpêtrière University Hospital, Metabolic Biochemistry Department, INSERM, U1016, Institut Cochin, Paris F-75014, France. Electronic address: [email protected].
⁶ Sorbonne Université, UPMC-Paris 6, UMR S 1127 and Inserm U 1127, and CNRS UMR 7225, and Institut du Cerveau et de la Moelle épinière, F-75013, Paris, France; AP-HP, Pitié-Salpêtrière University Hospital, Department of Neuroradiology, Paris, France. Electronic address: [email protected].
⁷ Sorbonne Université, UPMC-Paris 6, UMR S 1127 and Inserm U 1127, and CNRS UMR 7225, and Institut du Cerveau et de la Moelle épinière, F-75013, Paris, France; AP-HP, Pitié-Salpêtrière University Hospital, Department of Genetics, Paris, France; University Pierre and Marie Curie, Neurometabolic Research Group, Paris, France. Electronic address: [email protected].

PMID: 29474836
DOI: 10.1016/j.mito.2018.02.001

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).

Keywords: Diffusion tensor imaging; Polymerase gamma mutations; Radiological biomarker; Volumetry.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Adolescent
Adult
Aged
Animals
Basal Ganglia / pathology
Biomarkers / analysis*
Brain Stem / pathology
DNA Polymerase gamma / genetics*
Diffusion Tensor Imaging / methods*
Female
Gyrus Cinguli / pathology
Humans
Male
Middle Aged
Mitochondrial Diseases / diagnostic imaging*
Mutation*
Myography / methods
Retrospective Studies
Young Adult

Substances

Biomarkers
DNA Polymerase gamma
POLG protein, human