|
Impaired cognition
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
FMR1 alleles in Parkinson's disease: relation to cognitive decline and hallucinations, a longitudinal study.
|
17548778 |
2007 |
|
Impaired cognition
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
A CGG-repeat expansion in the premutation range in the Fragile X mental retardation 1 gene (FMR1) has been identified as the genetic cause of Fragile X-associated tremor/ataxia syndrome (FXTAS), a late-onset neurodegenerative disorder that manifests with action tremor, gait ataxia and cognitive impairments.
|
28369393 |
2017 |
|
Impaired cognition
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
A neurological syndrome involving progressive action tremor with ataxia, cognitive decline and generalized brain atrophy has been described recently in some adult males with pre-mutation alleles of the fragile X syndrome (FXS) fragile X mental retardation gene (FMR1).
|
12135967 |
2002 |
|
Impaired cognition
|
0.100 |
Biomarker
|
disease |
BEFREE |
Altered surface mGluR5 dynamics provoke synaptic NMDAR dysfunction and cognitive defects in Fmr1 knockout mice.
|
29062097 |
2017 |
|
Impaired cognition
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
Aspects of FXTAS that are modeled well include elevated levels of Fmr1 mRNA, reduced levels of Fmrp, the presence of intranuclear inclusions that develop with age and show similar distributions within neurons, and neuropsychological and cognitive deficits, including poor motor function, impaired memory and evidence of increased anxiety.
|
19574928 |
2009 |
|
Impaired cognition
|
0.100 |
Biomarker
|
disease |
BEFREE |
Despite extensive research, it is unclear how FMRP deficiency contributes to the cognitive deficits in FXS.
|
21516088 |
2011 |
|
Impaired cognition
|
0.100 |
Biomarker
|
disease |
BEFREE |
Examples include CAPRIN1 and AFF2 (both linked to FMR1, which is involved in fragile X syndrome), VIP (involved in social-cognitive deficits), and other genes such as SCN2A and KCNQ2 (linked to epilepsy), NRXN1, and CHD7, which causes ASD-associated CHARGE syndrome.
|
23849776 |
2013 |
|
Impaired cognition
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Expansion of a polymorphic GCC-repeat at the FRAXE locus has been associated with expression of chromosome fragility at this site and cognitive impairment in some individuals previously testing negative for CGG-repeat expansion in the fragile X mental retardation-1 (FMR1) gene.
|
8844096 |
1996 |
|
Impaired cognition
|
0.100 |
PosttranslationalModification
|
disease |
BEFREE |
Fragile X syndrome, the most common heritable form of cognitive impairment, is caused by epigenetic silencing of the fragile X (FMR1) gene owing to large expansions (>200 repeats) of a non-coding CGG-repeat element.
|
23867198 |
2013 |
|
Impaired cognition
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Here we show that young adult female fXPCs show subtle, yet significant, age- and FMR1 gene mutation-modulated cognitive impairments as tested by a quantitative magnitude comparison task.
|
21295394 |
2011 |
|
Impaired cognition
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
However, a neurological condition involving intention tremor, ataxia, and cognitive decline has recently been identified among older male carriers of premutation alleles of the FMR1 gene.
|
14526182 |
2003 |
|
Impaired cognition
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
In the fragile X female carriers the degree of cognitive impairment appears to be correlated with activation status of the X chromosome bearing the expanded trinucleotide repeat in the promoter of the FMR1 gene.
|
10449653 |
1999 |
|
Impaired cognition
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
It arises from a mutation in the FMR1 gene on the X chromosome that interferes with expression of fragile X mental retardation protein (FMRP) and leads to a wide range of behavioural and cognitive deficits.
|
19796132 |
2010 |
|
Impaired cognition
|
0.100 |
Biomarker
|
disease |
BEFREE |
It is characterized by cognitive impairment and physical and behavioral problems and is caused by the silencing of fmr1 transcription and the absence of the fmr1 protein (FMRP).
|
23536755 |
2013 |
|
Impaired cognition
|
0.100 |
Biomarker
|
disease |
BEFREE |
Loss of the fragile X mental retardation protein, FMRP, engenders molecular, behavioral, and cognitive deficits in FXS patients.
|
30365357 |
2019 |
|
Impaired cognition
|
0.100 |
GeneticVariation
|
disease |
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 |
|
Impaired cognition
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
Methylation of the fragile X-related epigenetic element 2 (FREE2) located on the exon 1/intron 1 boundary of the FMR1 gene is related to FMRP expression and cognitive impairment in full mutation (FM; CGG>200) individuals.
|
23307923 |
2013 |
|
Impaired cognition
|
0.100 |
GeneticVariation
|
disease |
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 |
|
Impaired cognition
|
0.100 |
Biomarker
|
disease |
BEFREE |
Reducing histone acetylation rescues both neurogenesis and cognitive deficits in mature adult FMRP-deficient mice.
|
29950602 |
2018 |
|
Impaired cognition
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
Silencing of the fragile X mental retardation 1 (FMR1) gene leads to loss of expression of FMRP and upregulated metabotropic glutamate receptor 5 (mGluR5) signaling resulting in the multiple physical and cognitive deficits associated with fragile X syndrome (FXS).
|
25956630 |
2015 |
|
Impaired cognition
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The fragile X mental retardation 1 gene (FMR1)-related disorder fragile X syndrome (FXS) is the most common heritable form of cognitive impairment and the second most common cause of comorbid autism.
|
30084485 |
2019 |
|
Impaired cognition
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The data suggest that hypermethylation of the FMR1 intron 1 sites in blood is predictive of cognitive impairment in FM females, with implications for improved fragile X syndrome diagnostics in young children and screening of the newborn population.
|
22235103 |
2012 |
|
Impaired cognition
|
0.100 |
Biomarker
|
disease |
BEFREE |
The DNAzyme based knockdown approach led to a significant knockdown of FMRP in the zebrafish embryos, accompanied by increased anxiety, irritability and cognitive impairments at 7dpf, thus creating a robust larval model of FXS.
|
31734279 |
2020 |
|
Impaired cognition
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
The Parkinson disease (Unified Parkinson's Disease Rating Scale) motor score and the measures of cognitive decline (Mini-Mental State Examination and/or Addenbrooke's Cognitive Examination Final Revised Version A scores) were significantly correlated with the size of the CGG repeat and the (elevated) levels of antisense FMR1 and Cytochrome C1 mRNAs in blood leukocytes.
|
21270637 |
2011 |
|
Impaired cognition
|
0.100 |
Biomarker
|
disease |
BEFREE |
The results are also suggestive of factors other than FMRP deficit which may determine some specific cognitive deficits in fragile X pre-mutation carriers.
|
12949966 |
2003 |