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Neurodegenerative Disorders
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0.100 |
GeneticVariation
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group |
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Fragile X-associated tremor/ataxia syndrome (FXTAS) is a late-onset neurodegenerative disorder caused by expanded CGG (CGG<sup>exp</sup>) trinucleotides in the 5'UTR of the <i>FMR1</i> gene encoding fragile X mental retardation protein (FMRP).
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29971092 |
2018 |
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Neurodegenerative Disorders
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0.100 |
GeneticVariation
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group |
BEFREE |
Fragile X-associated Tremor/Ataxia Syndrome (FXTAS) is a neurodegenerative disorder caused by expansion of 55-200 CGG repeats in the 5'-UTR of the FMR1 gene.
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20186122 |
2010 |
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Neurodegenerative Disorders
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0.100 |
GeneticVariation
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group |
BEFREE |
Fragile X-associated tremor/ataxia syndrome (FXTAS) is an adult-onset neurodegenerative disorder among carriers of premutation expansions (55-200 CGG repeats) of the fragile X mental retardation 1 (FMR1) gene.
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20430935 |
2010 |
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Neurodegenerative Disorders
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0.100 |
GeneticVariation
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group |
BEFREE |
Fragile X-associated tremor/ataxia syndrome (FXTAS) is a neurodegenerative disorder that affects carriers of premutation alleles (55-200 CGG repeats) of the fragile X mental retardation 1 (FMR1) gene.
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21389081 |
2011 |
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Neurodegenerative Disorders
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GeneticVariation
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Fragile X-associated tremor/ataxia syndrome (FXTAS) is a leading monogenic neurodegenerative disorder affecting premutation carriers of the fragile X (FMR1) gene.
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22641815 |
2012 |
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Neurodegenerative Disorders
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Biomarker
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The absence of either the neurodegenerative disorder or inclusions among adults with fragile X syndrome (who lack the FMR1 protein), coupled with elevated FMR1 mRNA with expanded CGG repeats in premutation carriers, has led us to propose an RNA toxic gain-of-function model for FXTAS.
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17179750 |
2004 |
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Neurodegenerative Disorders
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0.100 |
GeneticVariation
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group |
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Individuals carrying an FMR1 expansion between 55 and 200 CGG repeats, are at risk of developing the Fragile X-associated tremor/ataxia syndrome (FXTAS), a late onset neurodegenerative disorder characterized by cerebellar gait ataxia, intentional tremor, neuropathy, parkinsonism, cognitive decline, and psychological disorders, such as anxiety and depression.
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30900185 |
2019 |
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Neurodegenerative Disorders
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0.100 |
GeneticVariation
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group |
BEFREE |
Fragile X-associated tremor/ataxia syndrome (FXTAS) is an inherited neurodegenerative disorder caused by the expansion of 55-200 CGG repeats in the 5' UTR of FMR1.
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23478018 |
2013 |
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Neurodegenerative Disorders
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0.100 |
GeneticVariation
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group |
BEFREE |
Fragile X-associated tremor/ataxia syndrome (FXTAS) is a neurodegenerative disorder caused by a limited expansion of CGG repeats in the 5' UTR of FMR1.
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28065649 |
2017 |
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Neurodegenerative Disorders
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0.100 |
GeneticVariation
|
group |
BEFREE |
Fragile X-associated tremor/ataxia syndrome (FXTAS) is an adult-onset neurodegenerative disorder among carriers of premutation expansions (55-200 CGG repeats) of the fragile X mental retardation 1 (FMR1) gene.
|
19864489 |
2010 |
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Neurodegenerative Disorders
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0.100 |
GeneticVariation
|
group |
BEFREE |
Fragile X-associated tremor/ataxia syndrome (FXTAS) is a late-onset neurodegenerative disorder occurring in male and rare female carriers of a premutation expansion (55 to 200 CGG repeats) of the fragile X mental retardation 1 (FMR1) gene.
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17724287 |
2007 |
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Neurodegenerative Disorders
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0.100 |
GeneticVariation
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group |
BEFREE |
Fragile X-associated tremor/ataxia syndrome (FXTAS), which occurs in some premutation carriers of the fragile X mental retardation 1 (FMR1) gene, is a neurodegenerative disorder characterized by action tremor, gait ataxia, and impaired executive cognitive functioning.
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19404994 |
2009 |
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Neurodegenerative Disorders
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0.100 |
GeneticVariation
|
group |
BEFREE |
Fragile X-associated tremor/ataxia syndrome (FXTAS) is a neurodegenerative disorder occurring in male and occasional female carriers of a premutation expansion (55-200 CGG repeats) of the fragile X mental retardation 1 gene (FMR1).
|
19908235 |
2010 |
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Neurodegenerative Disorders
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0.100 |
GeneticVariation
|
group |
BEFREE |
Fragile X-associated tremor/ataxia syndrome (FXTAS) is a neurodegenerative disorder that affects some adult carriers of pre-mutation alleles (55-200 CGG repeats) of the fragile X mental retardation 1 (FMR1) gene.
|
16239243 |
2005 |
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Neurodegenerative Disorders
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0.100 |
GeneticVariation
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group |
BEFREE |
Fragile X-associated tremor/ataxia syndrome (FXTAS) is a late-onset neurodegenerative disorder typically affecting male premutation carriers with 55-200 CGG trinucleotide repeat expansions in the FMR1 gene after age 50.
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28391068 |
2017 |
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Neurodegenerative Disorders
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0.100 |
GeneticVariation
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group |
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FMR1 premutation alleles uniquely produce FMR1 transcripts with an elongated CGG repeat, leading to the hypothesis that premutant transcripts cause the neurodegenerative disease in carriers.Recently Jin et al. demonstrated, in Drosophila, that FMR1 premutation RNA causes neurodegeneration.
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15111000 |
2004 |
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Neurodegenerative Disorders
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0.100 |
Biomarker
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group |
BEFREE |
Fragile X-associated tremor/ataxia syndrome is a late-onset neurodegenerative disorder that occurs in FMR1 premutation carriers.
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23492875 |
2013 |
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Neurodegenerative Disorders
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0.100 |
GeneticVariation
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group |
BEFREE |
CGG repeat expansions in FMR1 cause the neurodegenerative disorder Fragile X-associated Tremor/Ataxia Syndrome (FXTAS).
|
31665086 |
2019 |
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Neurodegenerative Disorders
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0.100 |
GeneticVariation
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group |
BEFREE |
PM carriers bear an expanded CGG trinucleotide repeat on the Fragile X Mental Retardation 1 (FMR1) gene, and are at risk for developing the late onset neurodegenerative disorder FXTAS.
|
27355912 |
2016 |
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Neurodegenerative Disorders
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Fragile X-associated tremor/ataxia syndrome (FXTAS) is an inherited neurodegenerative disorder caused by an expansion of 55 to 200 CGG repeats (premutation) in FMR1.
|
30771487 |
2019 |
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Neurodegenerative Disorders
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Premutation alleles of the fragile X mental retardation 1 gene (FMR1) are associated with the risk of developing fragile X-associated tremor/ataxia syndrome (FXTAS), a late-onset neurodegenerative disorder that involves neuropsychiatric problems and executive and memory deficits.
|
20537351 |
2011 |
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Neurodegenerative Disorders
|
0.100 |
GeneticVariation
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group |
BEFREE |
Carriers of the FMR1 premutation allele are at a significantly increased risk for a late-onset neurodegenerative disorder, fragile X-associated tremor/ataxia syndrome (FXTAS).
|
21443343 |
2011 |
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Neurodegenerative Disorders
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Carriers of premutation CGG expansions in the fragile X mental retardation 1 (FMR1) gene are at higher risk of developing a late-onset neurodegenerative disorder named Fragile X-associated tremor ataxia syndrome (FXTAS).
|
27555610 |
2016 |
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Neurodegenerative Disorders
|
0.100 |
GeneticVariation
|
group |
BEFREE |
The fragile X-associated tremor/ataxia syndrome (FXTAS) is an adult-onset neurodegenerative disorder caused by CGG trinucleotide repeat expansions in the fragile X mental retardation 1 (FMR1) gene.
|
22796595 |
2012 |
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Neurodegenerative Disorders
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Fragile X-associated tremor/ataxia syndrome (FXTAS) is a neurodegenerative disorder caused by a CGG repeat expansion in the premutation range (55-200) in the fragile X mental retardation 1 gene.
|
19574929 |
2009 |