|
FRAGILE X TREMOR/ATAXIA SYNDROME
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Dual pathology in fragile X mental retardation 1 (<i>FMR1)</i> premutation carriers and fragile X-associated tremor/ataxia syndrome (FXTAS) patients is an emerging phenomenon.
|
30158953 |
2018 |
|
FRAGILE X TREMOR/ATAXIA SYNDROME
|
0.900 |
Biomarker
|
disease |
BEFREE |
We found that TRA2A co-aggregates with FMR1 in a FXTAS mouse model and in post-mortem human samples.
|
30566867 |
2018 |
|
FRAGILE X TREMOR/ATAXIA SYNDROME
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
The cause of FXTAS is a premutation expansion, of 55 to 200 CGG repeats localized within the 5'UTR of FMR1.
|
29453961 |
2018 |
|
FRAGILE X TREMOR/ATAXIA SYNDROME
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
FMR1 premutation carriers (55-200 CGGs) are at risk of developing Fragile X-associated primary ovarian insufficiency as well as Fragile X-associated tremor/ataxia syndrome.
|
29604051 |
2018 |
|
FRAGILE X TREMOR/ATAXIA SYNDROME
|
0.900 |
Biomarker
|
disease |
BEFREE |
In fragile X-associated tremor ataxia syndrome, a toxic gain of function is postulated with the production of excess CGG repeat-containing FMR1 mRNA, abnormal translation of the repeat sequence leading to production of polyglycine, polyalanine, and other polypeptides and to outright deficits in translation leading to reduced FMRP at larger premutation sizes.
|
29325626 |
2018 |
|
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 a neurological disorder that affects premutation carriers with 55-200 CGG-expansion repeats (preCGG) in FMR1, presenting with early alterations in neuronal network formation and function that precede neurodegeneration.
|
28444183 |
2017 |
|
FRAGILE X TREMOR/ATAXIA SYNDROME
|
0.900 |
GeneticVariation
|
disease |
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.
|
28391068 |
2017 |
|
FRAGILE X TREMOR/ATAXIA SYNDROME
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Fragile X-associated tremor/ataxia syndrome is an adult-onset disorder associated with premutation alleles of the FMR1 gene.
|
28233916 |
2017 |
|
FRAGILE X TREMOR/ATAXIA SYNDROME
|
0.900 |
Biomarker
|
disease |
BEFREE |
Our data thus demonstrate that expression of a 90CGG premutation expansion outside of the FMR1 context is sufficient to evoke an FXTAS-like behavioural phenotype.
|
28369393 |
2017 |
|
FRAGILE X TREMOR/ATAXIA SYNDROME
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Fragile X-associated tremor/ataxia syndrome (FXTAS) and fragile X-associated primary ovarian insufficiency (FXPOI) are disorders seen in carriers of FMR1 alleles with 55-200 repeats.
|
28866801 |
2017 |
|
FRAGILE X TREMOR/ATAXIA SYNDROME
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Fragile X-associated tremor/ataxia syndrome (FXTAS) is a late-onset neurodegenerative disorder affecting approximately 45% of male and 16% of female carriers of the FMR1 premutation over the age of 50 years.
|
28707277 |
2017 |
|
FRAGILE X TREMOR/ATAXIA SYNDROME
|
0.900 |
Biomarker
|
disease |
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.
|
28065649 |
2017 |
|
FRAGILE X TREMOR/ATAXIA SYNDROME
|
0.900 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Intragenic FMR1 disease-causing variants: a significant mutational mechanism leading to Fragile-X syndrome.
|
28176767 |
2017 |
|
FRAGILE X TREMOR/ATAXIA SYNDROME
|
0.900 |
Biomarker
|
disease |
BEFREE |
Their characterization will also help to elucidating the mechanism(s) by which "toxic gain of function" of the FMR1 mRNA may play a role in FXTAS and/or in the other FMR1-associated conditions.
|
28888471 |
2017 |
|
FRAGILE X TREMOR/ATAXIA SYNDROME
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Male carriers of an expansion of CGG alleles (with 55-200 CGG repeats) in the FMR1 gene are affected with Fragile X-associated tremor/ataxia syndrome (FXTAS).
|
27696273 |
2017 |
|
FRAGILE X TREMOR/ATAXIA SYNDROME
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
While all FXTAS individuals are carriers of a 55-200 CGG expansion at the 5'-UTR of the fragile X mental retardation gene (FMR1), also known as premutation, not all carriers develop FXTAS symptoms and some display other types of psychological/emotional disorders (e.g., autism, anxiety).
|
27089882 |
2016 |
|
FRAGILE X TREMOR/ATAXIA SYNDROME
|
0.900 |
GeneticVariation
|
disease |
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 |
|
FRAGILE X TREMOR/ATAXIA SYNDROME
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Neurological/cognitive and neuroradiological examinations revealed FXTAS-specific findings in the female with the autozygous FMR1 premutation allele.
|
27315125 |
2016 |
|
FRAGILE X TREMOR/ATAXIA SYNDROME
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Premutations in the fragile X mental retardation 1 (FMR1) gene cause fragile X-associated tremor/ataxia syndrome (FXTAS) and FMR1-related primary ovarian insufficiency (POI).
|
27230899 |
2016 |
|
FRAGILE X TREMOR/ATAXIA SYNDROME
|
0.900 |
AlteredExpression
|
disease |
BEFREE |
In contrast, smaller pre-mutations of 55–200 CGG are associated with FMR1 overexpression and Fragile X-associated tremor/ataxia syndrome (FXTAS), a late-onset neurodegenerative condition.
|
28173181 |
2016 |
|
FRAGILE X TREMOR/ATAXIA SYNDROME
|
0.900 |
Biomarker
|
disease |
CTD_human |
Altered redox mitochondrial biology in the neurodegenerative disorder fragile X-tremor/ataxia syndrome: use of antioxidants in precision medicine.
|
27385396 |
2016 |
|
FRAGILE X TREMOR/ATAXIA SYNDROME
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Twenty-two PM males (ages 26-80, 7 with FXTAS) and 24 matched controls with normal FMR1 alleles (ages 26-77) completed cross-sectional assessments of subjective memory complaints (memory complaints questionnaire, MAC-Q), objective memory function (Logical Memory subtest from the Wechsler Memory Scale, third edition), and psychiatric symptoms (Depression, Anxiety, and Stress Scales; the Structured Clinical Interview for DSM-IV-TR Axis I Disorders).
|
27355815 |
2016 |
|
FRAGILE X TREMOR/ATAXIA SYNDROME
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
We performed quantitative gait and mobility analysis in seven FMR1 PM carriers with FXTAS and ataxia, six PM carriers without FXTAS, and 18 age-matched controls.
|
26298472 |
2016 |
|
FRAGILE X TREMOR/ATAXIA SYNDROME
|
0.900 |
Biomarker
|
disease |
BEFREE |
The neuropathological hallmark in FXTAS is the presence of intranuclear, ubiquitin-positive inclusions that also contain FMR1 transcript.
|
27277287 |
2016 |