|
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 |
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 |
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 |
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 |
GeneticVariation
|
disease |
BEFREE |
In this pilot study, we evaluated whether allopregnanolone, a natural neurosteroid that exerts beneficial effects in neurodegenerative diseases, nervous system injury, and peripheral neuropathies, could improve lymphocytic bioenergetics and plasma pharmacometabolomics in six males with FXTAS (68 ± 3 years old; FMR1 CGG repeats 94 ± 4; FXTAS stages ranging from 3 to 5) enrolled in a 12-week open-label intervention study conducted at the University of California Davis from December 2015 through July 2016.
|
30187385 |
2019 |
|
FRAGILE X TREMOR/ATAXIA SYNDROME
|
0.900 |
AlteredExpression
|
disease |
BEFREE |
To better understand the physiopathological role of the increased levels of Fmr1 mRNA during neuronal differentiation, we used a small interfering RNA (siRNA) approach to reduce the abundance of this mRNA in cultured cortical neurons from the FXTAS mouse model.
|
31671347 |
2019 |
|
FRAGILE X TREMOR/ATAXIA SYNDROME
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Its main pathogenic gene is fragile X mental retardation 1 (FMR1) gene associated with intellectual disability, autism, and fragile X-related primary ovarian insufficiency (FXPOI) and fragile X-associated tremor/ataxia syndrome (FXTAS).
|
31191598 |
2019 |
|
FRAGILE X TREMOR/ATAXIA SYNDROME
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Fragile X-associated tremor/ataxia syndrome (FXTAS) is an adult-onset neurodegenerative disorder that affects premutation carriers (55-200 CGG repeats) of the fragile X mental retardation 1 (FMR1) gene.
|
30476102 |
2019 |
|
FRAGILE X TREMOR/ATAXIA SYNDROME
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Fragile X-associated tremor/ataxia syndrome (FXTAS) is a neurodegenerative disorder associated with a premutation repeat expansion (55-200 CGG repeats) in the 5' noncoding region of the FMR1 gene.
|
31481131 |
2019 |
|
FRAGILE X TREMOR/ATAXIA SYNDROME
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
This study examined the relationships between caudate volume and select cognitive measures (executive function and information processing speed) in men at risk of developing FXTAS and controls with normal FMR1 alleles (<45 CGG repeats).
|
30046972 |
2019 |
|
FRAGILE X TREMOR/ATAXIA SYNDROME
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Characterization of motor issues associated with aging in FMR1 premutation carriers is needed to determine neurodegenerative processes and establish new biobehavioral indicators to help identify individuals at greatest risk of developing FXTAS.
|
30665341 |
2019 |
|
FRAGILE X TREMOR/ATAXIA SYNDROME
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
This study explores the relationships between hemispheric and cerebellar white matter lesions and motor and cognitive impairments in male carriers of Fragile-X Mental Retardation 1 (<i>FMR1</i>) premutation alleles, and in a subgroup of these carriers affected with Fragile X-Associated Tremor/Ataxia syndrome (FXTAS).
|
31456732 |
2019 |
|
FRAGILE X TREMOR/ATAXIA SYNDROME
|
0.900 |
Biomarker
|
disease |
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 |
|
FRAGILE X TREMOR/ATAXIA SYNDROME
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
In human brain samples, mtDNA levels were measured in the cerebellar vermis, dentate nucleus, parietal and temporal cortex, thalamus, caudate nucleus and hippocampus from a female FXTAS patient, a FMR1 premutation male carrier without FXTAS and from three male controls.
|
30887649 |
2019 |
|
FRAGILE X TREMOR/ATAXIA SYNDROME
|
0.900 |
Biomarker
|
disease |
BEFREE |
A CGG trinucleotide repeat expansion in the 5' UTR of FMR1 causes the neurodegenerative disorder Fragile X-associated tremor/ataxia syndrome (FXTAS).
|
31347257 |
2019 |
|
FRAGILE X TREMOR/ATAXIA SYNDROME
|
0.900 |
Biomarker
|
disease |
BEFREE |
The aim of this study was to estimate the prevalence of FMR1 premutations in a carefully recruited group of ET patients with additional phenotypic features of FXTAS.
|
31158927 |
2019 |
|
FRAGILE X TREMOR/ATAXIA SYNDROME
|
0.900 |
GeneticVariation
|
disease |
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 |
|
FRAGILE X TREMOR/ATAXIA SYNDROME
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Fragile X mental retardation 1 (FMR1) CGG repeat expansions cause fragile X syndrome-the leading monogenic form of intellectual disability-and increase the risk for fragile X-associated tremor ataxia syndrome and fragile X-associated primary ovarian insufficiency.
|
30847793 |
2019 |
|
FRAGILE X TREMOR/ATAXIA SYNDROME
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
An expansion of CGG tandem repeats in the 5' untranslated region (5'-UTR) of fragile X mental retardation 1 (<i>FMR1</i>) gene causes fragile X-associated tremor/ataxia syndrome (FXTAS).
|
31264835 |
2019 |
|
FRAGILE X TREMOR/ATAXIA SYNDROME
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Expansion of a CGG-repeat tract in the 5' UTR of FMR1 is responsible for the Fragile X-related disorders (FXDs), FXTAS, FXPOI and FXS.
|
30606610 |
2019 |
|
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 |
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 |
GeneticVariation
|
disease |
BEFREE |
Fragile X mental retardation type 1 (FMR1) gene premutation is the first single-gene cause of primary ovarian failure (Fragile X-associated primary ovarian insufficiency [FXPOI]) and one of the most common causes of ataxia (fragile X-associated tremor/ataxia syndrome [FXTAS]), multiple additional phenotypes such as fibromyalgia, hypothyroidism, migraine headaches, sleep disturbances, sleep apnea, restless legs syndrome, central pain syndrome, neuropathy and neuropsychiatric alterations has been described.
|
28617938 |
2018 |
|
FRAGILE X TREMOR/ATAXIA SYNDROME
|
0.900 |
Biomarker
|
disease |
BEFREE |
Our established protocols enable sensitive tracking of FMRP and FMRpolyG quantitative and qualitative changes after treatment with potential therapeutic agents for FXTAS.
|
29971092 |
2018 |
|
FRAGILE X TREMOR/ATAXIA SYNDROME
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Fragile X-associated tremor/ataxia syndrome (FXTAS) is a late-onset neurodegenerative disorder associated with premutation alleles of the FMR1 gene.
|
30537011 |
2018 |