ArticleJournal of neuropathology and experimental neurology2011
Rare intranuclear inclusions in the brains of 3 older adult males with fragile x syndrome: implications for the spectrum of fragile x-associated disorders.
Article in Journal of neuropathology and experimental neurology, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers.
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Who cites it
24 citing papers in PubMed, 37 citations in OpenAlex.
- Mis-spliced FMR1 transcripts in human fragile X syndrome neural progenitors and neurons.Journal of neurodevelopmental disorders · 2026Article
- Neurodegeneration of White and Gray Matter in the Hippocampus with FXTAS.International journal of molecular sciences · 2023Article
- Defining the 3'Epigenetic Boundary of theInternational journal of molecular sciences · 2023Article
- Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS): Pathophysiology and Clinical Implications.International journal of molecular sciences · 2020Review
- 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
- Fragile X-associated tremor/ataxia syndrome.Annals of the New York Academy of Sciences · 2015Review
- Fragile X spectrum disorders.Intractable & rare diseases research · 2014Review
- FXTAS in an unmethylated mosaic male with fragile X syndrome from Chile.Clinical genetics · 2014Article
- CNS expression of murine fragile X protein (FMRP) as a function of CGG-repeat size.Human molecular genetics · 2014Article
- Reduced activity-dependent protein levels in a mouse model of the fragile X premutation.Neurobiology of learning and memory · 2014Article
- Molecular Advances Leading to Treatment Implications for Fragile X Premutation Carriers.Brain disorders & therapy · 2014Article
- Advances in clinical and molecular understanding of the FMR1 premutation and fragile X-associated tremor/ataxia syndrome.The Lancet. Neurology · 2013Review
- Transmission of an FMR1 premutation allele in a large family identified through newborn screening: the role of AGG interruptions.Journal of human genetics · 2013Article
- Fragile X-associated tremor/ataxia syndrome (FXTAS): pathology and mechanisms.Acta neuropathologica · 2013Review
- Intranuclear inclusions in a fragile X mosaic male.Translational neurodegeneration · 2013Article
- Neurocognitive endophenotypes in CGG KI and Fmr1 KO mouse models of Fragile X-Associated disorders: an analysis of the state of the field.F1000Research · 2013Review
- CGG trinucleotide repeat length modulates neural plasticity and spatiotemporal processing in a mouse model of the fragile X premutation.Hippocampus · 2012Article
- Distribution and frequency of intranuclear inclusions in female CGG KI mice modeling the fragile X premutation.Brain research · 2012Article
- Clustered burst firing in FMR1 premutation hippocampal neurons: amelioration with allopregnanolone.Human molecular genetics · 2012Article
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Authors and funding
7 authors at 4 institutions in 2 countries.
Funding
Abstract
The FMR1 gene is polymorphic for the length of CGG trinucleotide repeat expansions in the 5' untranslated region. Premutation (55-200 CGG repeats) and full-mutation (>200 CGG repeats) alleles give rise to their respective disorders by different pathogenic mechanisms: RNA gain-of-function toxicity leads to fragile X-associated tremor/ataxia syndrome in the premutation range, and transcriptional silencing and absence of fragile X mental retardation protein (FMRP) lead to fragile X syndrome in the full-mutation range. However, for the latter, incomplete silencing and/or size-mosaicism might result in some contribution to the disease process from residual messenger RNA production. To address this possibility, we examined the brains of 3 cases of fragile X syndrome for the presence of intranuclear inclusions in the hippocampal dentate gyrus. We identified low levels (0.1%-1.3%) of intranuclear inclusions in all 3 cases. Quantitative reverse transcription-polymerase chain reaction for FMR1 messenger RNA and immunofluorescence for FMRP revealed low but detectable levels of both RNA and protein in the 3 cases, consistent with the presence of small numbers of inclusions. The intranuclear inclusions were only present in FMRP-immunoreactive cells. The small numbers of inclusions and very low levels of both FMR1 RNA and protein suggest that the clinical course in these 3 subjects would not have been influenced by contributions from RNA toxicity.
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