Parkinsonism Versus Concomitant Parkinson's Disease in Fragile X–Associated Tremor/Ataxia Syndrome
Sign Up to like & getrecommendations! Published in 2020 at "Movement Disorders Clinical Practice"
DOI: 10.1002/mdc3.12942
Abstract: Fragile X–associated tremor/ataxia syndrome (FXTAS) is a late‐onset neurodegenerative disorder associated with premutation alleles (55–200 CGG repeats) of the fragile X mental retardation 1 (FMR1) gene. FXTAS is characterized by the presence of ubiquitin‐positive inclusions… read more here.
Keywords: fragile associated; tremor ataxia; associated tremor; ataxia syndrome ... See more keywords
Women with Fragile X–associated Tremor/Ataxia Syndrome
Sign Up to like & getrecommendations! Published in 2020 at "Movement Disorders Clinical Practice"
DOI: 10.1002/mdc3.13084
Abstract: Fragile X–associated tremor and ataxia syndrome (FXTAS) is a late‐onset neurodegenerative disorder linked to the FMR1 premutation. read more here.
Keywords: fragile associated; women fragile; tremor ataxia; ataxia syndrome ... See more keywords
Reduced caudate volume and cognitive slowing in men at risk of fragile X-associated tremor ataxia syndrome
Sign Up to like & getrecommendations! Published in 2018 at "Brain Imaging and Behavior"
DOI: 10.1007/s11682-018-9928-7
Abstract: Fragile X-associated tremor ataxia syndrome is an inherited neurodegenerative disorder caused by premutation expansions (55–200 CGG repeats) of the FMR1 gene. There is accumulating evidence to suggest that early cognitive and brain imaging signs may… read more here.
Keywords: premutation; fragile associated; tremor ataxia; volume ... See more keywords
Small Molecule Screening Discovers Compounds that Reduce FMRpolyG Protein Aggregates and Splicing Defect Toxicity in Fragile X-Associated Tremor/Ataxia Syndrome.
Sign Up to like & getrecommendations! Published in 2022 at "Molecular neurobiology"
DOI: 10.1007/s12035-021-02697-z
Abstract: Expansion of CGG trinucleotide repeats in 5' untranslated region of the FMR1 gene is the causative mutation of neurological diseases such as fragile X syndrome (FXS), fragile X-associated tremor/ataxia syndrome (FXTAS), and ovarian disorder such… read more here.
Keywords: associated tremor; cgg; tremor ataxia; ataxia syndrome ... See more keywords
Can a Neurosteroid Ameliorate Fragile X-Associated Tremor/Ataxia Syndrome?
Sign Up to like & getrecommendations! Published in 2017 at "Neurotherapeutics"
DOI: 10.1007/s13311-017-0569-0
Abstract: Fragile X-associated tremor/ataxia syndrome (FXTAS) is a progressive neurodegenerative disorder that affects approximately 45% of male and 16% of female carriers of a fragile X mental retardation 1 (FMR1) gene premutation over the age of… read more here.
Keywords: fragile associated; tremor ataxia; associated tremor; ataxia syndrome ... See more keywords
Neddylation activity modulates the neurodegeneration associated with fragile X associated tremor/ataxia syndrome (FXTAS) through regulating Sima
Sign Up to like & getrecommendations! Published in 2020 at "Neurobiology of Disease"
DOI: 10.1016/j.nbd.2020.105013
Abstract: Fragile X associated tremor/ataxia syndrome (FXTAS) is a late-onset neurodegenerative disorder caused by expansion of CGG repeats in the 5' UTR of the fragile X mental retardation 1 (FMR1) gene. Using the well-established FXTAS Drosophila… read more here.
Keywords: fragile associated; tremor ataxia; associated tremor; ataxia syndrome ... See more keywords
Sulforaphane improves mitochondrial metabolism in fibroblasts from patients with fragile X-associated tremor and ataxia syndrome
Sign Up to like & getrecommendations! Published in 2021 at "Neurobiology of Disease"
DOI: 10.1016/j.nbd.2021.105427
Abstract: CGG expansions between 55 and 200 in the 5'-untranslated region of the fragile-X mental retardation gene (FMR1) increase the risk of developing the late-onset debilitating neuromuscular disease Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS). While the science… read more here.
Keywords: fragile associated; tremor ataxia; ataxia syndrome; associated tremor ... See more keywords
FMR1 locus isoforms: potential biomarker candidates in fragile X-associated tremor/ataxia syndrome (FXTAS)
Sign Up to like & getrecommendations! Published in 2020 at "Scientific Reports"
DOI: 10.1038/s41598-020-67946-y
Abstract: Fragile X associated tremor/ataxia syndrome (FXTAS) is a late adult-onset neurodegenerative disorder that affects movement and cognition in male and female carriers of a premutation allele of 55–200 CGG repeats in the Fragile X mental… read more here.
Keywords: fragile associated; fmr1 locus; tremor ataxia; ataxia syndrome ... See more keywords
Identification of PSMB5 as a genetic modifier of fragile X–associated tremor/ataxia syndrome
Sign Up to like & getrecommendations! Published in 2022 at "Proceedings of the National Academy of Sciences of the United States of America"
DOI: 10.1073/pnas.2118124119
Abstract: Significance Expansion of 55-200 CGG repeats in the 5′ untranslated region of FMR1 predisposes carriers to fragile X–associated tremor/ataxia syndrome (FXTAS), a late-onset neurodegenerative disorder. FXTAS demonstrates incomplete penetrance, which strongly suggests the presence of… read more here.
Keywords: ataxia syndrome; tremor ataxia; fragile associated; psmb5 ... See more keywords
Glial dysregulation in the human brain in fragile X-associated tremor/ataxia syndrome.
Sign Up to like & getrecommendations! Published in 2023 at "Proceedings of the National Academy of Sciences of the United States of America"
DOI: 10.1073/pnas.2300052120
Abstract: Short trinucleotide expansions at the FMR1 locus are associated with the late-onset condition fragile X-associated tremor/ataxia syndrome (FXTAS), which shows very different clinical and pathological features from fragile X syndrome (associated with longer expansions), with… read more here.
Keywords: premutation; ataxia syndrome; tremor ataxia; fragile associated ... See more keywords
Mechanistic convergence across initiation sites for RAN translation in fragile X associated tremor ataxia syndrome.
Sign Up to like & getrecommendations! Published in 2022 at "Human molecular genetics"
DOI: 10.1093/hmg/ddab353
Abstract: Repeat associated non-AUG (RAN) translation of CGG repeats in the 5'UTR of FMR1 produces toxic proteins that contribute to Fragile X-associated tremor/ataxia syndrome (FXTAS) pathogenesis. The most abundant RAN product, FMRpolyG, initiates predominantly at an… read more here.
Keywords: ran translation; tremor ataxia; fragile associated; associated tremor ... See more keywords