Systematic review: quantitative susceptibility mapping (QSM) of brain iron profile in neurodegenerative diseases

P Ravanfar, SM Loi, WT Syeda… - Frontiers in …, 2021 - frontiersin.org
Iron has been increasingly implicated in the pathology of neurodegenerative diseases. In
the past decade, development of the new magnetic resonance imaging technique …

Cerebral iron deposition in neurodegeneration

P Dusek, T Hofer, J Alexander, PM Roos, JO Aaseth - Biomolecules, 2022 - mdpi.com
Disruption of cerebral iron regulation appears to have a role in aging and in the
pathogenesis of various neurodegenerative disorders. Possible unfavorable impacts of iron …

[HTML][HTML] Friedreich ataxia-pathogenesis and implications for therapies

MB Delatycki, SI Bidichandani - Neurobiology of disease, 2019 - Elsevier
Friedreich ataxia is the most common of the hereditary ataxias. It is due to homozygous/
compound heterozygous mutations in FXN. This gene encodes frataxin, a protein largely …

Sphingolipids in neurodegenerative diseases

X Pan, D Dutta, S Lu, HJ Bellen - Frontiers in Neuroscience, 2023 - frontiersin.org
Neurodegenerative Diseases (NDDs) are a group of disorders that cause progressive
deficits of neuronal function. Recent evidence argues that sphingolipid metabolism is …

Neuroinflammation in the Cerebellum and Brainstem in Friedreich Ataxia: An [18F]‐FEMPA PET Study

W Khan, LA Corben, H Bilal, L Vivash… - Movement …, 2022 - Wiley Online Library
Background Neuroinflammation is proposed to accompany, or even contribute to,
neuropathology in Friedreich ataxia (FRDA), with implications for disease treatment and …

High levels of frataxin overexpression lead to mitochondrial and cardiac toxicity in mouse models

B Belbellaa, L Reutenauer, N Messaddeq… - … Therapy-Methods & …, 2020 - cell.com
Friedreich ataxia (FA) is currently an incurable inherited mitochondrial disease caused by
reduced levels of frataxin (FXN). Cardiac dysfunction is the main cause of premature death …

Brain structure and degeneration staging in Friedreich ataxia: magnetic resonance imaging volumetrics from the ENIGMA‐ataxia working group

IH Harding, S Chopra, F Arrigoni, S Boesch… - Annals of …, 2021 - Wiley Online Library
Objective Friedreich ataxia (FRDA) is an inherited neurological disease defined by
progressive movement incoordination. We undertook a comprehensive characterization of …

Development of PPARγ agonists for the treatment of neuroinflammatory and neurodegenerative diseases: leriglitazone as a promising candidate

P Pizcueta, C Vergara, M Emanuele, A Vilalta… - International Journal of …, 2023 - mdpi.com
Increasing evidence suggests that the peroxisome proliferator-activated receptor γ (PPARγ),
a member of the nuclear receptor superfamily, plays an important role in physiological …

Quantitative susceptibility mapping reveals alterations of dentate nuclei in common types of degenerative cerebellar ataxias

A Deistung, D Jäschke, R Draganova… - Brain …, 2022 - academic.oup.com
The cerebellar nuclei are a brain region with high iron content. Surprisingly, little is known
about iron content in the cerebellar nuclei and its possible contribution to pathology in …

New and emerging drug and gene therapies for Friedreich Ataxia

V Scott, MB Delatycki, G Tai, LA Corben - CNS drugs, 2024 - Springer
The life shortening nature of Friedreich Ataxia (FRDA) demands the search for therapies that
can delay, stop or reverse its relentless trajectory. This review provides a contemporary …