ArticleNeuroImage. Clinical2014
Cerebellar pathology in Friedreich's ataxia: atrophied dentate nuclei with normal iron content.
Article in NeuroImage. Clinical, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 32 papers, 1 of them a synthesis that pooled it.
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Who cites it
32 citing papers in PubMed, 1 synthesis or guideline pooled it, 63 citations in OpenAlex.
- Functional MRI Studies in Friedreich's Ataxia: A Systematic Review.Frontiers in neurology · 2021Pooled it
- [Trinucleotide repeat disorders].Radiologie (Heidelberg, Germany) · 2026Review
- Review
- Frataxin deficiency and the pathology of Friedreich's Ataxia across tissues.Tissue barriers · 2025Review
- Long non-coding RNABrain communications · 2024Article
- Efficacy and Safety of Leriglitazone in Patients With Friedreich Ataxia: A Phase 2 Double-Blind, Randomized Controlled Trial (FRAMES).Neurology. Genetics · 2022Article
- Quantitative susceptibility mapping reveals alterations of dentate nuclei in common types of degenerative cerebellar ataxias.Brain communications · 2022Article
- Conventional MRI findings in hereditary degenerative ataxias: a pictorial review.Neuroradiology · 2021Review
- Toward quantitative neuroimaging biomarkers for Friedreich's ataxia at 7 Tesla: Susceptibility mapping, diffusion imaging, RJournal of neuroscience research · 2020Article
- Cerebellum and cognition in Friedreich ataxia: a voxel-based morphometry and volumetric MRI study.Journal of neurology · 2020Article
- Using deep learning for a diffusion-based segmentation of the dentate nucleus and its benefits over atlas-based methods.Journal of medical imaging (Bellingham, Wash.) · 2019Article
- Pattern of Cerebellar Atrophy in Friedreich's Ataxia-Using the SUIT Template.Cerebellum (London, England) · 2019Article
- The Role of Iron in Friedreich's Ataxia: Insights From Studies in Human Tissues and Cellular and Animal Models.Frontiers in neuroscience · 2019Review
- Biallelic mutations in FDXR cause neurodegeneration associated with inflammation.Journal of human genetics · 2018Article
- Visualizing the Human Subcortex Using Ultra-high Field Magnetic Resonance Imaging.Brain topography · 2018Review
- Cognitive and functional connectivity alterations in Friedreich's ataxia.Annals of clinical and translational neurology · 2018Article
- Functional and Structural Brain Damage in Friedreich's Ataxia.Frontiers in neurology · 2018Article
- Improved Neuroimaging Atlas of the Dentate Nucleus.Cerebellum (London, England) · 2017Article
- Comprehensive analysis of gene expression patterns in Friedreich's ataxia fibroblasts by RNA sequencing reveals altered levels of protein synthesis factors and solute carriers.Disease models & mechanisms · 2017Article
- Transplantation of wild-type mouse hematopoietic stem and progenitor cells ameliorates deficits in a mouse model of Friedreich's ataxia.Science translational medicine · 2017Article
Corrections and comments
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Authors and funding
8 authors at 5 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundIn Friedreich's ataxia (FA) the genetically decreased expression of the mitochondrial protein frataxin leads to disturbance of the mitochondrial iron metabolism. Within the cerebellum the dentate nuclei (DN) are primarily affected. Histopathological studies show atrophy and accumulation of mitochondrial iron in DN. Dentate iron content has been suggested as a biomarker to measure the effects of siderophores/antioxidant treatment of FA. We assessed the iron content and the volume of DN in FA patients and controls based on ultra-high-field MRI (7 Tesla) images.
methodsFourteen FA patients (mean age 38.1 yrs) and 14 age- and gender-matched controls participated. Multi-echo gradient echo and susceptibility weighted imaging (SWI) sequences were acquired on a 7 T whole-body scanner. For comparison SWI images were acquired on a 1.5 T MR scanner. Volumes of the DN and cerebellum were assessed at 7 and 1.5 T, respectively. Parametric maps of T2 and T2* sequences were created and proton transverse relaxation rates were estimated as a measure of iron content.
resultsIn FA, the DN and the cerebellum were significantly smaller compared to controls. However, proton transverse relaxation rates of the DN were not significantly different between both groups.
conclusionsApplying in vivo MRI methods we could demonstrate significant atrophy of the DN in the presence of normal iron content. The findings suggest that relaxation rates are not reliable biomarkers in clinical trials evaluating the potential effect of FA therapy.
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