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

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

Research output: Contribution to journal › Article › peer-review

3 Scopus citations

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 language	English (US)
Pages (from-to)	22-28
Number of pages	7
Journal	Mitochondrion
Volume	45
DOIs	https://doi.org/10.1016/j.mito.2018.02.001
State	Published - Mar 2019
Externally published	Yes

Bibliographical note

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

Keywords

Diffusion tensor imaging
Polymerase gamma mutations
Radiological biomarker
Volumetry

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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).",

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AU - Adanyeguh, Isaac

AU - Tchikviladzé, Maya

AU - Maisonobe, Thierry

AU - Jardel, Claude

AU - Galanaud, Damien

AU - Mochel, Fanny

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AB - 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).

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

Abstract

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Keywords

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