|
Tremor
|
0.100 |
Biomarker
|
phenotype |
BEFREE |
Finally, since this syndrome may represent one of the more common single-gene causes of tremor, ataxia, and dementia among older males, FMR1 DNA testing should be considered when evaluating adult patients with tremor/ataxia.
|
14526182 |
2003 |
|
Tremor
|
0.100 |
GeneticVariation
|
phenotype |
BEFREE |
The occurrence of late-onset tremor and premature ovarian failure in the maternal branch of the family pointed to a possible defect in the FMR1 gene.
|
20425835 |
2010 |
|
Tremor
|
0.100 |
GeneticVariation
|
phenotype |
BEFREE |
A quantitative assessment of tremor and ataxia in FMR1 premutation carriers using CATSYS.
|
18241072 |
2008 |
|
Tremor
|
0.100 |
GeneticVariation
|
phenotype |
BEFREE |
Our results highlight that FXTAS is still not well diagnosed; therefore, we recommend FMR1 premutation screenings in all patients with late-onset tremor, ataxia, and cognitive dysfunction.
|
18373410 |
2008 |
|
Tremor
|
0.100 |
GeneticVariation
|
phenotype |
BEFREE |
Carriers of FMR1 alleles with 55-200 repeats in the 5' UTR are at risk for Fragile X associated tremor and ataxia syndrome.
|
17442505 |
2007 |
|
Tremor
|
0.100 |
Biomarker
|
phenotype |
BEFREE |
The purpose of this study was to determine the prevalence of fragile X mental retardation 1 repeat expansions in a movement disorder population comprising subjects with all types of tremor, ataxia, and parkinsonism.
|
21567456 |
2011 |
|
Tremor
|
0.100 |
GeneticVariation
|
phenotype |
BEFREE |
Loss of the RNA-binding fragile X protein [fragile X mental retardation protein (FMRP)] results in a spectrum of cognitive deficits, the fragile X syndrome (FXS), while aging individuals with decreased protein levels present with a subset of these symptoms and tremor.
|
22993428 |
2012 |
|
Tremor
|
0.100 |
GeneticVariation
|
phenotype |
BEFREE |
We describe five female carriers of the FMR1 premutation who presented with symptoms of tremor and ataxia and who received a diagnosis of definite or probable fragile-X-associated tremor/ataxia syndrome (FXTAS).
|
15065016 |
2004 |
|
Tremor
|
0.100 |
GeneticVariation
|
phenotype |
BEFREE |
Frequency of FMR1 premutation in individuals with ataxia and/or tremor and/or parkinsonism.
|
18273822 |
2008 |
|
Tremor
|
0.100 |
GeneticVariation
|
phenotype |
BEFREE |
The spectrum of tremor among carriers of the FMR1 premutation with or without the fragile X-associated tremor/ataxia syndrome (FXTAS).
|
31126791 |
2019 |
|
Tremor
|
0.100 |
AlteredExpression
|
phenotype |
BEFREE |
Together with fragile X-associated tremor and ataxia (FXTAS) and fragile X-associated premature ovarian failure (POF)/primary ovarian insufficiency (POI), FXS depends on dysfunctional expression of the FMR1 gene on Xq27.3.
|
29170104 |
2018 |
|
Tremor
|
0.100 |
Biomarker
|
phenotype |
BEFREE |
Fragile X-associated tremor/ataxia (FXTAS) is a late onset disorder caused by a premutation in the FMR1 gene, in which neurological symptoms are associated with white matter (wm) changes, especially within the middle cerebellar peduncles (MCP sign), seen on magnetic resonance images (MRIs).
|
18057083 |
2008 |
|
Tremor
|
0.100 |
GeneticVariation
|
phenotype |
BEFREE |
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.
|
30900185 |
2019 |
|
Tremor
|
0.100 |
Biomarker
|
phenotype |
BEFREE |
Fragile-X mental retardation protein (FMRP) is a complex regulator of RNA and synaptic plasticity implicated in fragile-X tremor and ataxia syndrome, a phenotype featuring increased Fmr1 mRNA expression.
|
30969437 |
2019 |
|
Tremor
|
0.100 |
GeneticVariation
|
phenotype |
BEFREE |
Following the discovery of two disorders associated with premutation alleles of the fragile X mental retardation gene (FMR1), primary ovarian insufficiency [fragile X-associated primary ovarian insufficiency (FXPOI)] and a tremor/ataxia syndrome [fragile X-associated tremor/ataxia disorder (FXTAS)], numerous studies have examined other potential co-morbid conditions, including neuropsychological deficits.
|
20059484 |
2010 |
|
Tremor
|
0.100 |
GeneticVariation
|
phenotype |
BEFREE |
Progression of tremor and ataxia in male carriers of the FMR1 premutation.
|
17133502 |
2007 |
|
Tremor
|
0.100 |
GeneticVariation
|
phenotype |
BEFREE |
People with 59-200 CGG.CCG-repeats in the 5' UTR of one of their FMR1 genes are at risk for Fragile X tremor and ataxia syndrome.
|
15862312 |
2005 |
|
Tremor
|
0.100 |
GeneticVariation
|
phenotype |
LHGDN |
Penetrance of the fragile X-associated tremor/ataxia syndrome in a premutation carrier population.
|
14747503 |
2004 |
|
Tremor
|
0.100 |
AlteredExpression
|
phenotype |
LHGDN |
FMR1 RNA within the intranuclear inclusions of fragile X-associated tremor/ataxia syndrome (FXTAS).
|
17179750 |
2004 |
|
Tremor
|
0.100 |
GeneticVariation
|
phenotype |
LHGDN |
We describe five female carriers of the FMR1 premutation who presented with symptoms of tremor and ataxia and who received a diagnosis of definite or probable fragile-X-associated tremor/ataxia syndrome (FXTAS).
|
15065016 |
2004 |
|
Tremor
|
0.100 |
GeneticVariation
|
phenotype |
LHGDN |
FMR1 CGG repeat length predicts motor dysfunction in premutation carriers.
|
18057320 |
2008 |