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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 associated with premutation alleles of the FMR1 gene.
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27259564 |
2016 |
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Neurodegenerative Disorders
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Fragile X-associated tremor/ataxia syndrome (FXTAS) is a late-onset neurodegenerative disorder that occurs in FMR1 premutation carriers.
|
27315125 |
2016 |
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Neurodegenerative Disorders
|
0.100 |
GeneticVariation
|
group |
BEFREE |
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.
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27287737 |
2016 |
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Neurodegenerative Disorders
|
0.100 |
GeneticVariation
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group |
BEFREE |
Premutation alleles in fragile X mental retardation 1 (FMR1) can cause the late-onset neurodegenerative disorder, fragile X-associated tremor ataxia syndrome (FXTAS) and/or the fragile X-associated primary ovarian insufficiency in approximately 20% of heterozygotes.
|
25399540 |
2015 |
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Neurodegenerative Disorders
|
0.100 |
GeneticVariation
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group |
BEFREE |
Fragile X-associated tremor/ataxia syndrome (FXTAS), a neurodegenerative disorder, affects fragile X (FMR1) gene premutation carriers in late life.
|
24299169 |
2014 |
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Neurodegenerative Disorders
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Carriers of an FMR1 premutation allele (55-200 CGG repeats) often develop the neurodegenerative disorders, fragile X-associated tremor/ataxia syndrome (FXTAS).
|
24028275 |
2014 |
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Neurodegenerative Disorders
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Fragile X-associated tremor/ataxia syndrome (FXTAS) is a late-onset neurodegenerative disorder in which patients carry premutation alleles of 55-200 CGG repeats in the FMR1 gene.
|
24108107 |
2014 |
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Neurodegenerative Disorders
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Fragile X-associated tremor/ataxia syndrome (FXTAS) is a severe neurodegenerative disorder that affects carriers of premutation CGG-repeat expansion alleles of the fragile X mental retardation 1 (FMR1) gene; current evidence supports a causal role of the expanded CGG repeat within the FMR1 mRNA in the pathogenesis of FXTAS.
|
24821701 |
2014 |
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Neurodegenerative Disorders
|
0.100 |
GeneticVariation
|
group |
BEFREE |
The CGG repeat within the premutation range in the fragile X mental retardation 1 (FMR1) gene can lead to neurodegenerative disorders and intellectual disabilities.
|
23739124 |
2013 |
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Neurodegenerative Disorders
|
0.100 |
AlteredExpression
|
group |
BEFREE |
Carriers with a premutation allele (55-200 CGG repeats) are often associated with mildly reduced levels of FMRP and/or elevated levels of FMR1 mRNA, and are associated with the risk of developing a neurodegenerative disorder known as fragile X-associated tremor/ataxia syndrome (FXTAS).
|
24045061 |
2013 |
|
Neurodegenerative Disorders
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Fragile X-associated tremor/ataxia syndrome (FXTAS) is a late-onset neurodegenerative disorder associated with FMR1 gene premutation alleles (55-200 CGG repeats).
|
23790110 |
2013 |
|
Neurodegenerative Disorders
|
0.100 |
GeneticVariation
|
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.
|
23478018 |
2013 |
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Neurodegenerative Disorders
|
0.100 |
Biomarker
|
group |
BEFREE |
Fragile X-associated tremor/ataxia syndrome is a late-onset neurodegenerative disorder that occurs in FMR1 premutation carriers.
|
23492875 |
2013 |
|
Neurodegenerative Disorders
|
0.100 |
AlteredExpression
|
group |
BEFREE |
Individuals with the fragile X premutation express expanded CGG repeats (repeats 55-200) in the FMR1 gene and elevated FMR1 messenger RNA (mRNA) levels, both of which may underlie the occurrence of the late-onset neurodegenerative disorder fragile X-associated tremor/ataxia syndrome (FXTAS).
|
23753897 |
2013 |
|
Neurodegenerative Disorders
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Fragile X associated tremor/ataxia syndrome (FXTAS) is a late onset neurodegenerative disorder caused by aberrant expansion of CGG repeats in 5' UTR of FMR1 gene.
|
23626835 |
2013 |
|
Neurodegenerative Disorders
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Fragile X-associated tremor/ataxia syndrome (FXTAS) is an adult-onset neurodegenerative disorder associated with premutation alleles of the fragile X mental retardation 1 (FMR1) gene.
|
22463693 |
2012 |
|
Neurodegenerative Disorders
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Fragile X-associated tremor/ataxia syndrome (FXTAS) is a leading monogenic neurodegenerative disorder affecting premutation carriers of the fragile X (FMR1) gene.
|
22641815 |
2012 |
|
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 |
Special emphasis has been placed on the possibility that the modest elevation of 'toxic' FMR1 mRNA in the carriers of grey zone alleles may present an additional risk for some neurodegenerative diseases, such as those associated with parkinsonism, by synergizing with either other susceptibility genes or environmental poisons.
|
23560306 |
2012 |
|
Neurodegenerative Disorders
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Older male premutation carriers of the FMR1 gene are associated with the risk of developing a late-onset neurodegenerative disorder, fragile X-associated tremor/ataxia syndrome.
|
21484870 |
2011 |
|
Neurodegenerative Disorders
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Fragile X-associated tremor/ataxia syndrome (FXTAS) is a late-onset neurodegenerative disorder that affects individuals who are carriers of small CGG premutation expansions in the fragile X mental retardation 1 (FMR1) gene.
|
21558427 |
2011 |
|
Neurodegenerative Disorders
|
0.100 |
GeneticVariation
|
group |
BEFREE |
The fragile X-associated tremor/ataxia syndrome (FXTAS) is a late-onset neurodegenerative disorder caused by expansions of 55-200 CGG repeats in the 5'UTR of the FMR1 gene.
|
21639881 |
2011 |
|
Neurodegenerative Disorders
|
0.100 |
GeneticVariation
|
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.
|
21389081 |
2011 |
|
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 |
|
Neurodegenerative Disorders
|
0.100 |
GeneticVariation
|
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 |