Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

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

Mitochondrion - 1 Mar 2019

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

Abstract excerpt

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...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Young Adult
Share to Basal Ganglia
Share to Biomarkers

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Brain Stem

Share to Diffusion Tensor Imaging

Share to DNA Polymerase gamma

Share to Gyrus Cinguli

Share to Mitochondrial Diseases

Source

Identifiers

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

Genes

POLG

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Quantitative neuroimaging biomarkers in a series of 20 adult patients with POLG mutations.PMID 29474836Read ↗

Characteristic brain MRI findings in ataxia-neuropathy spectrum related to POLG mutation.Semantic proximity Read ↗

Simplifying the clinical classification of polymerase gamma (POLG) disease based on age of onset; studies using a cohort of 155 cases.Semantic proximity Read ↗

Molecular pathogenesis of polymerase γ-related neurodegeneration.Semantic proximity Read ↗

Characterizing POLG ataxia: clinics, electrophysiology and imaging.Semantic proximity Read ↗

Consequences of mutations in human DNA polymerase gamma.Semantic proximity Read ↗

POLG mutations associated with remitting/relapsing neurological events.Semantic proximity Read ↗

Asymmetric Ataxia, Depression, Memory Loss, Epilepsy, and Axonal Neuropathy Associated with A Heterozygous DNA Polymerase Gamma Variant of Uncertain Significance, c1370G>a (R457Q).Semantic proximity Read ↗

POLG1 mutations associated with progressive encephalopathy in childhood.Semantic proximity Read ↗

Rare autosomal dominant POLG1 mutation in a family with metabolic strokes, posterior column spinal degeneration, and multi-endocrine disease.Semantic proximity Read ↗

Cranial nerve and cervical root enhancement in an infant with polymerase gamma mutation mitochondrial disease.Semantic proximity Read ↗

A variable neurodegenerative phenotype with polymerase gamma mutation.Semantic proximity Read ↗

DNA polymerase gamma and mitochondrial disease: understanding the consequence of POLG mutations.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.