ArticleCerebellum (London, England)2016
Cerebellar Mild Iron Accumulation in a Subset of FMR1 Premutation Carriers with FXTAS.
Article in Cerebellum (London, England), 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
14 citing papers in PubMed, 20 citations in OpenAlex.
- Ultra-high-field 7-Tesla magnetic resonance imaging in fragile X tremor/ataxia syndrome (FXTAS).The neuroradiology journal · 2024Article
- Review
- Clinical and Molecular Correlates of Abnormal Changes in the Cerebellum and Globus Pallidus in Fragile X Premutation.Frontiers in neurology · 2022Article
- Increased iron content in the heart of the Fmr1 knockout mouse.Biometals : an international journal on the role of metal ions in biology, biochemistry, and medicine · 2021Article
- Cerebral Microbleeds in Fragile X-Associated Tremor/Ataxia Syndrome.Movement disorders : official journal of the Movement Disorder Society · 2021Article
- Fragile X Premutation: Medications, Therapy and Lifestyle Advice.Pharmacogenomics and personalized medicine · 2021Review
- Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS): Pathophysiology and Clinical Implications.International journal of molecular sciences · 2020Review
- Fragile X syndrome and associated disorders: Clinical aspects and pathology.Neurobiology of disease · 2020Review
- Rapidly Progressing Neurocognitive Disorder in a Male with FXTAS and Alzheimer's Disease.Clinical interventions in aging · 2020Article
- [Fragile X associated tremor/ataxia syndrome: its clinical presentation, pathology, and treatment].Revista de neurologia · 2019Review
- Microglial cell activation and senescence are characteristic of the pathology FXTAS.Movement disorders : official journal of the Movement Disorder Society · 2018Article
- Presence of Middle Cerebellar Peduncle Sign inFrontiers in neurology · 2018Article
- Iron accumulation and dysregulation in the putamen in fragile X-associated tremor/ataxia syndrome.Movement disorders : official journal of the Movement Disorder Society · 2017Article
- A Novel Clinical Phenotype of Fragile X-Associated Tremor/Ataxia Syndrome.Movement disorders clinical practiceArticle
Corrections and comments
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Authors and funding
5 authors at 3 institutions in 1 country.
Funding
Abstract
Fragile X-associated tremor/ataxia syndrome (FXTAS) is a late-onset neurodegenerative disorder associated with premutation alleles of the FMR1 gene. Iron is essential for many facets of cell metabolism in the brain but when altered is likely to contribute to the development of neurodegenerative diseases. We previously reported that iron accumulates in the choroid plexus and the putamen in FXTAS and that the level and distribution of key iron-binding proteins are also altered, suggesting a potential alteration of iron metabolism in the brain. Here, we hypothesize that iron metabolism is also altered in the FXTAS cerebellum. To test this hypothesis, we used cerebellum samples collected from FXTAS and control subjects and measured the amount of iron contained within the cerebellar cortex and dentate nucleus. We found that the number of iron deposits increased in the cerebellum only in a subset of cases of FXTAS. This accumulation is likely to be mediated by factors other than or in addition to CGG-repeat coupled pathology. Thus, iron deposition in the cerebellum cannot be used as a hallmark of FXTAS pathogenesis.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.