ArticleMovement disorders : official journal of the Movement Disorder Society2021
Cerebral Microbleeds in Fragile X-Associated Tremor/Ataxia Syndrome.
Article in Movement disorders : official journal of the Movement Disorder Society, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.
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Who cites it
18 citing papers in PubMed, 21 citations in OpenAlex.
- Article
- Essential tremor-like phenotype in Fragile X carrier women.Clinical parkinsonism & related disorders · 2026Article
- LINC-EPS Protects Against Neurodegeneration by Driving a PGC-1α-Mediated Anti-Ferroptosis Program in Parkinson's Disease.International journal of biological sciences · 2026Article
- Review
- Enlarged perivascular spaces and their association with motor, cognition, MRI markers and cerebrovascular risk factors in male fragile X premutation carriers.Journal of the neurological sciences · 2024Article
- FXTAS Neuropathology Includes Widespread Reactive Astrogliosis and White Matter Specific Astrocyte Degeneration.Annals of neurology · 2024Article
- Review
- Article
- Article
- A postmortem MRI study of cerebrovascular disease and iron content at end-stage of fragile X-associated tremor/ataxia syndrome.Research square · 2023Article
- The polyG diseases: a new disease entity.Acta neuropathologica communications · 2022Review
- Hispano-American Brain Bank on Neurodevelopmental Disorders: An initiative to promote brain banking, research, education, and outreach in the field of neurodevelopmental disorders.Brain pathology (Zurich, Switzerland) · 2022Article
- Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS): A Gender Perspective.Journal of clinical medicine · 2022Review
- Fragile X-associated tremor ataxia syndrome rating scale: Revision and content validity using a mixed method approach.Frontiers in neurology · 2022Article
- Evaluation of AQP4 functional variants and its association with fragile X-associated tremor/ataxia syndrome.Frontiers in aging neuroscience · 2022Article
- Clinical characteristics of two patients with neuronal intranuclear inclusion disease and literature review.Frontiers in neuroscience · 2022Article
- Clinical and Molecular Correlates of Abnormal Changes in the Cerebellum and Globus Pallidus in Fragile X Premutation.Frontiers in neurology · 2022Article
- Case Report: Coexistence of Alzheimer-Type Neuropathology in Fragile X-Associated Tremor Ataxia Syndrome.Frontiers in neuroscience · 2021Article
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Authors and funding
13 authors at 5 institutions in 2 countries.
Funding
Abstract
backgroundFragile X-associated tremor/ataxia syndrome is a neurodegenerative disease of late onset developed by carriers of the premutation in the fragile x mental retardation 1 (FMR1) gene. Pathological features of neurodegeneration in fragile X-associated tremor/ataxia syndrome include toxic levels of FMR1 mRNA, ubiquitin-positive intranuclear inclusions, white matter disease, iron accumulation, and a proinflammatory state.
objectiveThe objective of this study was to analyze the presence of cerebral microbleeds in the brains of patients with fragile X-associated tremor/ataxia syndrome and investigate plausible causes for cerebral microbleeds in fragile X-associated tremor/ataxia syndrome.
methodsWe collected cerebral and cerebellar tissue from 15 fragile X-associated tremor/ataxia syndrome cases and 15 control cases carrying FMR1 normal alleles. We performed hematoxylin and eosin, Perls and Congo red stains, ubiquitin, and amyloid β protein immunostaining. We quantified the number of cerebral microbleeds, amount of iron, presence of amyloid β within the capillaries, and number of endothelial cells containing intranuclear inclusions. We evaluated the relationships between pathological findings using correlation analysis.
resultsWe found intranuclear inclusions in the endothelial cells of capillaries and an increased number of cerebral microbleeds in the brains of those with fragile X-associated tremor/ataxia syndrome, both of which are indicators of cerebrovascular dysfunction. We also found a suggestive association between the amount of capillaries that contain amyloid β in the cerebral cortex and the rate of disease progression.
conclusionWe propose microangiopathy as a pathologic feature of fragile X-associated tremor/ataxia syndrome. © 2021 International Parkinson and Movement Disorder Society.
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