|
FRAGILE X TREMOR/ATAXIA SYNDROME
|
0.900 |
Biomarker
|
disease |
BEFREE |
CGG repeat expansions in FMR1 cause the neurodegenerative disorder Fragile X-associated Tremor/Ataxia Syndrome (FXTAS).
|
31665086 |
2019 |
|
FRAGILE X TREMOR/ATAXIA SYNDROME
|
0.900 |
AlteredExpression
|
disease |
BEFREE |
The concomitant presence of features of FXS and late onset neurological deterioration with probable FXTAS likely result from a combined molecular pathology of elevated FMR1 mRNA levels, a molecular hallmark of FXTAS and low FMRP expression that leads to FXS.
|
25920745 |
2015 |
|
FRAGILE X TREMOR/ATAXIA SYNDROME
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Male carriers of the FMR1 premutation are at risk of developing the fragile X-associated tremor/ataxia syndrome (FXTAS), a newly recognised and largely under-diagnosed late onset neurodegenerative disorder.
|
19542082 |
2009 |
|
FRAGILE X TREMOR/ATAXIA SYNDROME
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
The expanded CGG mutation in the FMR1 gene, once thought to have clinical significance limited to fragile X syndrome, is now well established as the cause for other fragile X-associated disorders including fragile X-associated primary ovarian insufficiency and fragile X-associated tremor ataxia syndrome in individuals with the premutation (carriers).
|
23129072 |
2012 |
|
FRAGILE X TREMOR/ATAXIA SYNDROME
|
0.900 |
GeneticVariation
|
disease |
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.
|
20186122 |
2010 |
|
FRAGILE X TREMOR/ATAXIA SYNDROME
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Similar to other reports, we found that the FMR1 premutation is associated with deficits in general intelligence and memory among older males with symptoms of FXTAS.
|
21443343 |
2011 |
|
FRAGILE X TREMOR/ATAXIA SYNDROME
|
0.900 |
GeneticVariation
|
disease |
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 |
|
FRAGILE X TREMOR/ATAXIA SYNDROME
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
We postulate that, although the elevation of FMR1 transcripts associated with unmethylated FM alleles have a potential to cause FXTAS, in some cases this disorder may occur through an additional effect of exposure to neurotoxicants including alcohol.
|
21476992 |
2012 |
|
FRAGILE X TREMOR/ATAXIA SYNDROME
|
0.900 |
GeneticVariation
|
disease |
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 |
|
FRAGILE X TREMOR/ATAXIA SYNDROME
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Premutation alleles of the fragile X mental retardation 1 (FMR1) gene give rise to a late-onset movement disorder, fragile X-associated tremor/ataxia syndrome (FXTAS), characterized by progressive intention tremor and gait ataxia, with associated dementia and global brain atrophy.
|
17133502 |
2007 |
|
FRAGILE X TREMOR/ATAXIA SYNDROME
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
These findings suggest that older FMR1 premutation carriers exhibit functional motor control deficits that reflect either subclinical issues associated with premutations independent of FXTAS, or prodromal markers of the development of FXTAS.
|
31161414 |
2019 |
|
FRAGILE X TREMOR/ATAXIA SYNDROME
|
0.900 |
AlteredExpression
|
disease |
BEFREE |
Because the core feature of FXTAS is motor impairment, determining the influence of FMR1 mRNA levels on structural connectivity of motor fiber tracts is critical for a better understanding of the pathologic features of FXTAS.
|
23753897 |
2013 |
|
FRAGILE X TREMOR/ATAXIA SYNDROME
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Fourteen male carriers of the FMR1 premutation who had clinical manifestations of the FXTAS syndrome and 14 age- and education-matched controls were assessed with the Neuropsychiatric Inventory (NPI), formal cognitive testing, and genetic analysis.
|
16426093 |
2006 |
|
FRAGILE X TREMOR/ATAXIA SYNDROME
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
The spectrum of tremor among carriers of the FMR1 premutation with or without the fragile X-associated tremor/ataxia syndrome (FXTAS).
|
31126791 |
2019 |
|
FRAGILE X TREMOR/ATAXIA SYNDROME
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
CGG repeat expansion in the FMR1 gene is associated with fragile X syndrome, fragile X-associated tremor/ ataxia syndrome and fragile X-associated primary ovarian insufficiency.
|
25366135 |
2015 |
|
FRAGILE X TREMOR/ATAXIA SYNDROME
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Fragile X-associated disorders caused by the premutation of the FMR1 gene, includes the fragile X-associated tremor/ataxia syndrome (FXTAS).
|
22568721 |
2013 |
|
FRAGILE X TREMOR/ATAXIA SYNDROME
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
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).
|
27771901 |
2017 |
|
FRAGILE X TREMOR/ATAXIA SYNDROME
|
0.900 |
GeneticVariation
|
disease |
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 |
|
FRAGILE X TREMOR/ATAXIA SYNDROME
|
0.900 |
AlteredExpression
|
disease |
BEFREE |
POF and FXTAS are found in individuals with an expanded repeat between 50 and 200 CGGs and are associated with increased FMR1 mRNA levels.
|
12952862 |
2003 |
|
FRAGILE X TREMOR/ATAXIA SYNDROME
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Screening of movement disorder patients with other clinical features of FXTAS (e.g., ataxia and parkinsonism) may be more likely to yield expanded FMR1 alleles.
|
15300658 |
2004 |
|
FRAGILE X TREMOR/ATAXIA SYNDROME
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Over 40% of male and ∼16% of female carriers of a premutation FMR1 allele (55-200 CGG repeats) will develop fragile X-associated tremor/ataxia syndrome, an adult onset neurodegenerative disorder, while about 20% of female carriers will develop fragile X-associated primary ovarian insufficiency.
|
25358671 |
2015 |
|
FRAGILE X TREMOR/ATAXIA SYNDROME
|
0.900 |
AlteredExpression
|
disease |
BEFREE |
Both elevated levels of the expanded FMR1 mRNA and aberrant expression of a polyglycine protein (FMRpolyG) from the CGG-repeat region are hypothesized to trigger the pathogenesis of FXTAS.
|
30984240 |
2019 |
|
FRAGILE X TREMOR/ATAXIA SYNDROME
|
0.900 |
Biomarker
|
disease |
BEFREE |
FMR1 premutations associated with fragile X-associated tremor/ataxia syndrome in multiple system atrophy.
|
15956167 |
2005 |
|
FRAGILE X TREMOR/ATAXIA SYNDROME
|
0.900 |
AlteredExpression
|
disease |
BEFREE |
At the molecular level, FXTAS is characterized by increased expression of FMR1 sense and antisense RNA containing expanded CGG or GGC repeats, respectively.
|
29223504 |
2018 |
|
FRAGILE X TREMOR/ATAXIA SYNDROME
|
0.900 |
Biomarker
|
disease |
BEFREE |
Presently, guidelines for FMR1 genetic testing includes early menopause, congenital intellectual disability, autism spectrum disorder, tremor or ataxia, and a family history of FXTAS or fragile X syndrome.
|
21926154 |
2011 |