Afficher la couverture 'Quantitative neuroimaging biomarkers in a series of 20 adult patients with POLG mutations | Masingue, Marion' en grand format
/5

0 avis

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

Archive ouverte

Masingue, Marion | Adanyeguh, Isaac Mawusi | Tchikviladze, Maya | Maisonobe, Thierry | Jardel, Claude | Galanaud, Damien | Mochel, Fanny

Edité par CCSD ; Elsevier -

International audience. 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).

Suggestions

Du même auteur

Evolution of structural neuroimaging biomarkers in a series of adult patients with Niemann-Pick type C under treatment

Archive ouverte | Masingue, Marion | CCSD

International audience. Background: Niemann-Pick type C (NPC) disease is a lysosomal storage disorder characterized by a wide clinical spectrum and non-specific conventional magnetic resonance imaging (MRI) signs. A...

A diagnostic flow chart for POLG-related diseases based on signs sensitivity and specificity.

Archive ouverte | Tchikviladzé, Maya | CCSD

International audience. OBJECTIVE: Diseases due to mutations of POLG gene, encoding the mitochondrial DNA polymerase, are reputed to have very diverse clinical presentations and have been proposed to cause up to 25%...

The wide spectrum of COVID-19 neuropsychiatric complications within a multidisciplinary centre

Archive ouverte | Delorme, Cécile | CCSD

International audience. A variety of neuropsychiatric complications has been described in association with COVID-19 infection. Large scale studies presenting a wider picture of these complications and their relative...

Chargement des enrichissements...