ArticleCerebellum (London, England)2016
A Majority of FXTAS Cases Present with Intranuclear Inclusions Within Purkinje Cells.
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 29 papers.
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Who cites it
29 citing papers in PubMed, 46 citations in OpenAlex.
- The role of FMR1 mRNA structure on the efficiency of non-canonical translation of toxic polyglycine protein.Nucleic acids research · 2026Article
- An Autopsy Case With Fragile X-Associated Tremor/Ataxia Syndrome Presenting Intranuclear Inclusion Bodies Mainly in the Limbic System.Neuropathology : official journal of the Japanese Society of Neuropathology · 2026Article
- Integrated multi-omics profiling reveals novel molecular biomarkers and pathways associated with Fragile X-associated tremor/ataxia syndrome.Frontiers in molecular neuroscience · 2026Article
- Article
- FXTAS Neuropathology Includes Widespread Reactive Astrogliosis and White Matter Specific Astrocyte Degeneration.Annals of neurology · 2024Article
- Neuronal intranuclear inclusion disease with cortical involvement in left hemisphere: a case report.Wiener klinische Wochenschrift · 2024Article
- Review
- Dissecting the roles of EIF4G homologs reveals DAP5 as a modifier of CGG repeat-associated toxicity in a Drosophila model of FXTAS.Neurobiology of disease · 2023Article
- Article
- A postmortem MRI study of cerebrovascular disease and iron content at end-stage of fragile X-associated tremor/ataxia syndrome.Research square · 2023Article
- Sensorimotor and inhibitory control in agingFrontiers in human neuroscience · 2023Article
- Partners in crime: Proteins implicated in RNA repeat expansion diseases.Wiley interdisciplinary reviews. RNA · 2022Review
- Trinucleotide CGG Repeat Diseases: An Expanding Field of Polyglycine Proteins?Frontiers in genetics · 2022Review
- SRSF protein kinase 1 modulates RAN translation and suppresses CGG repeat toxicity.EMBO molecular medicine · 2021Article
- Cerebral Microbleeds in Fragile X-Associated Tremor/Ataxia Syndrome.Movement disorders : official journal of the Movement Disorder Society · 2021Article
- Fragile X syndrome and associated disorders: Clinical aspects and pathology.Neurobiology of disease · 2020Review
- Cerebellar-cortical function and connectivity during sensorimotor behavior in aging FMR1 gene premutation carriers.NeuroImage. Clinical · 2020Article
- Neuropathology of RAN translation proteins in fragile X-associated tremor/ataxia syndrome.Acta neuropathologica communications · 2019Article
- Composition of the Intranuclear Inclusions of Fragile X-associated Tremor/Ataxia Syndrome.Acta neuropathologica communications · 2019Article
- Repeat-associated non-AUG (RAN) translation: insights from pathology.Laboratory investigation; a journal of technical methods and pathology · 2019Review
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Authors and funding
6 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Fragile X-associated tremor/ataxia syndrome (FXTAS) is a progressive neurodegenerative disorder that affects carriers of a FMR1 premutation. Symptoms include cerebellar ataxia, tremor, and cognitive deficits. The most characteristic pathology of FXTAS is the presence of eosinophilic ubiquitin-positive intranuclear inclusions in neurons and astrocytes throughout the nervous system and non-nervous tissues. Inclusions are present in neurons throughout the brain but are widely believed not to be present in the Purkinje cells (PCs) of the cerebellum. However, we analyzed 26 postmortem cases of FXTAS and demonstrated that 65 % of cases presented with inclusions within PCs of the cerebellum. We determined that the presence or absence of inclusions in PCs is correlated with age and that those cases with PC inclusions were overall 11 years older than those with no PC inclusions. Half of the cases with PCs with inclusions presented with twin nuclear inclusions. This novel finding demonstrating the presence of inclusions within PCs provides an insight into the understanding of the FXTAS motor symptoms and provides a novel target for the development of therapeutic strategies.
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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.