Results 161 to 170 of about 2,807 (196)
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2010
Recent epidemiological studies in the United States estimate the prevalence of the FMR1 premutation as ranging from 1/148 to 1/209 in women and from 1/290 to 1/468 in men, with greater variability in prevalence reported in studies internationally. Population studies investigating the prevalence of FXTAS in the general population have not been conducted
Deborah A. Hall, Sebastien Jacquemont
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Recent epidemiological studies in the United States estimate the prevalence of the FMR1 premutation as ranging from 1/148 to 1/209 in women and from 1/290 to 1/468 in men, with greater variability in prevalence reported in studies internationally. Population studies investigating the prevalence of FXTAS in the general population have not been conducted
Deborah A. Hall, Sebastien Jacquemont
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Parkinsonism, FXTAS, and FMR1 premutations
Movement Disorders, 2004AbstractThe presence of late‐onset neurological symptoms in male carriers of premutation expansions of the fragile X mental retardation 1 (FMR1) gene has been described recently. One of the clinical symptoms in this fragile X–associated tremor/ataxia syndrome (FXTAS) is parkinsonism.
Mathias, Toft +8 more
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Update on the Clinical, Radiographic, and Neurobehavioral Manifestations in FXTAS and FMR1 Premutation Carriers [PDF]
Cerebellum, 2016 Fragile X-associated tremor/ataxia syndrome (FXTAS) is a progressive neurodegenerative disorder caused by a repeat expansion in the fragile X mental retardation 1 (FMR1) gene.
Deborah A Hall +2 more
exaly +2 more sources
2016
In 2002, a syndrome of tremor, ataxia, cognitive decline, and the presence of unique ubiquitin staining intranuclear inclusions in the brain was discovered in premutation males carrying an expansion of between 55 and 200 CGG trinucleotide repeats on the FMR1 gene. This clinical syndrome is now known as fragile X-associated tremor/ataxia (FXTAS) and has
Veronica Martinez Cerdeno, Claudia Greco
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In 2002, a syndrome of tremor, ataxia, cognitive decline, and the presence of unique ubiquitin staining intranuclear inclusions in the brain was discovered in premutation males carrying an expansion of between 55 and 200 CGG trinucleotide repeats on the FMR1 gene. This clinical syndrome is now known as fragile X-associated tremor/ataxia (FXTAS) and has
Veronica Martinez Cerdeno, Claudia Greco
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Impaired Mitochondrial Function and Dynamics in the Pathogenesis of FXTAS
Molecular Neurobiology, 2016Mitochondrial involvement plays an important role in neurodegenerative diseases. At least one-third of adult carriers of a FMR1 premutation (55-200 CGG repeats) are at risk of presenting an adult-onset neurodegenerative disorder known as fragile X-associated tremor/ataxia syndrome (FXTAS).
Maria Isabel Alvarez-Mora +2 more
exaly +3 more sources
On the aggregation properties of FMRP – a link with the FXTAS syndrome?
The FEBS Journal, 2011Fragile X mental retardation protein (FMRP) is an RNA binding protein necessary for correct spatiotemporal control of neuronal gene expression in humans. Lack of functional FMRP causes fragile X mental retardation, which is the most common inherited neurodevelopmental disorder in humans. In a previous study, we described the biochemical and biophysical
Sjekloca Ljiljana +2 more
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The Molecular Biology of FXTAS
2010Fragile X-associated tremor/ataxia syndrome (FXTAS) is a late adult onset neurodegenerative disorder that affects many individuals, mostly males, carriers of a premutation CGG repeat expansion in the FMR1 gene (55–200 CGG repeats). FXTAS symptoms include progressive intention tremor, gait ataxia, neuropathy, psychiatric symptoms, cognitive decline, and
Flora Tassone, Paul J. Hagerman
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Reduction of Fmr1 mRNA Levels Rescues Pathological Features in Cortical Neurons in a Model of FXTAS [PDF]
Molecular Therapy - Nucleic Acids, 2019 Fragile X-associated tremor ataxia syndrome (FXTAS) is a rare disorder associated to the presence of the fragile X premutation, a 55–200 CGG repeat expansion in the 5′ UTR of the FMR1 gene. Two main neurological phenotypes have been described in carriers
Sébastien Delhaye +2 more
exaly +2 more sources
2010
The use of model organisms is essential in order to understand the pathogenesis of many types of human disease, and this is particularly true for the study of genetic diseases such as fragile X syndrome and fragile X-associated tremor/ataxia syndrome (FXTAS). In reverse genetics, the functional study of a gene starts with the question of how a possible
Rob Willemsen +5 more
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The use of model organisms is essential in order to understand the pathogenesis of many types of human disease, and this is particularly true for the study of genetic diseases such as fragile X syndrome and fragile X-associated tremor/ataxia syndrome (FXTAS). In reverse genetics, the functional study of a gene starts with the question of how a possible
Rob Willemsen +5 more
openaire +1 more source
Radiological Findings in FXTAS
2010In this chapter we review the radiological and structural brain findings associated with fragile X-associated tremor/ataxia syndrome (FXTAS). We will review what is currently known about radiological signs of the disorder including both white matter lesions and mild to severe cortical loss.
Susan M. Rivera +2 more
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