ArticleTranslational neurodegeneration2013
Intranuclear inclusions in a fragile X mosaic male.
Article in Translational neurodegeneration, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 27 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.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
27 citing papers in PubMed, 40 citations in OpenAlex.
- Somatic Instability Leading to Mosaicism in Fragile X Syndrome and Associated Disorders: Complex Mechanisms, Diagnostics, and Clinical Relevance.International journal of molecular sciences · 2024Review
- Review
- Neurodegeneration of White and Gray Matter in the Hippocampus with FXTAS.International journal of molecular sciences · 2023Article
- Heterogeneity in Fragile X Syndrome Highlights the Need for Precision Medicine-Based Treatments.Frontiers in psychiatry · 2021Review
- A Genotype-Phenotype Study of High-ResolutionBrain sciences · 2020Article
- FMR1 mRNA from full mutation alleles is associated with ABC-CScientific reports · 2020Article
- Elevated FMR1-mRNA and lowered FMRP - A double-hit mechanism for psychiatric features in men with FMR1 premutations.Translational psychiatry · 2020Article
- Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS): Pathophysiology and Clinical Implications.International journal of molecular sciences · 2020Review
- Human Cerebral Cortex Proteome of Fragile X-Associated Tremor/Ataxia Syndrome.Frontiers in molecular biosciences · 2020Article
- Composition of the Intranuclear Inclusions of Fragile X-associated Tremor/Ataxia Syndrome.Acta neuropathologica communications · 2019Article
- General Anesthetic Use in Fragile X Spectrum Disorders.Journal of neurosurgical anesthesiology · 2019Review
- Incomplete silencing of full mutation alleles in males with fragile X syndrome is associated with autistic features.Molecular autism · 2019Article
- FXS-Like Phenotype in Two Unrelated Patients Carrying a Methylated Premutation of theFrontiers in genetics · 2018Article
- Global transcriptome dysregulation in second trimester fetuses with FMR1 expansions.Prenatal diagnosis · 2017Article
- Molecular Correlates and Recent Advancements in the Diagnosis and Screening of FMR1-Related Disorders.Genes · 2016Review
- Fragile X-associated tremor/ataxia syndrome - features, mechanisms and management.Nature reviews. Neurology · 2016Review
- FMR1 gene mutations in patients with fragile X syndrome and obligate carriers: 30 years of experience in Chile.Genetics research · 2016Article
- Fragile X-associated tremor/ataxia syndrome.Annals of the New York Academy of Sciences · 2015Review
- Advances in the Understanding of the Gabaergic Neurobiology of FMR1 Expanded Alleles Leading to Targeted Treatments for Fragile X Spectrum Disorder.Current pharmaceutical design · 2015Review
- Fragile X spectrum disorders.Intractable & rare diseases research · 2014Review
Corrections and comments
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Authors and funding
9 authors at 3 institutions in 1 country.
Funding
Abstract
Lack of the fragile X mental retardation protein leads to Fragile X syndrome (FXS) while increased levels of FMR1 mRNA, as those observed in premutation carriers can lead to Fragile X- associated tremor ataxia syndrome (FXTAS). Until recently, FXTAS had been observed only in carriers of an FMR1 premutation (55-200 CGG repeats); however the disorder has now been described in individuals carriers of an intermediate allele (45-54 CGG repeats) as well as in a subject with a full mutation with mosaicism.Here, we report on molecular and clinical data of a male FMR1 mosaic individual with full and premutation alleles. Molecular analysis of FMR1 and FMRP expression in this subject is consistent with a FXS phenotype. We observed reduced expression of FMRP in both peripheral blood and brain leading to the FXS diagnosis. In addition, a dramatic 90% depletion of both FMR1 mRNA and FMRP levels was observed in the blood, as normally observed in FXS cases, and an even greater depletion in the brain. A clinical report of this patient, at age 71, described neurodegenerative signs of parkinsonism that were likely, in retrospect, part of a FXTAS scenario as post-mortem examination shows the presence of intranuclear inclusions, the hallmark pathology of FXTAS.The findings presented in this study indicate co-morbidity for both FXS and FXTAS in this individual carrying both full and premutation FMR1 alleles. In addition, based on symptoms and pathological and molecular evidence, this report suggests the need to redefine the diagnostic criteria of FXTAS.
Identifiers
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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.