FMR1, FMRP translational regulator 1, 2332

N. diseases: 346; N. variants: 10
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0004134
Disease: Ataxia
Ataxia
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
CUI: C0004134
Disease: Ataxia
Ataxia
0.100 GeneticVariation phenotype BEFREE Premutation carriers of repeat expansions in the fragile X mental retardation (FMR1) gene develop kinetic tremor and ataxia or the 'fragile X associated tremor/ataxia syndrome' (FXTAS). 18565783 2009
CUI: C0004134
Disease: Ataxia
Ataxia
0.100 GeneticVariation phenotype 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
CUI: C0004134
Disease: Ataxia
Ataxia
0.100 GeneticVariation phenotype LHGDN FMR1 CGG repeat length predicts motor dysfunction in premutation carriers. 18057320 2008
CUI: C0004134
Disease: Ataxia
Ataxia
0.100 GeneticVariation phenotype 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
CUI: C0004134
Disease: Ataxia
Ataxia
0.100 GeneticVariation phenotype 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
CUI: C0004134
Disease: Ataxia
Ataxia
0.100 GeneticVariation phenotype 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
CUI: C0004134
Disease: Ataxia
Ataxia
0.100 GeneticVariation phenotype BEFREE FMR1 premutation alleles with a repeat number greater than 55 were detected in 3 probands (2.1%) from a total of 142 male subjects initially referred to our university medical center for evaluation of sporadic ataxia. 16908740 2006
CUI: C0004134
Disease: Ataxia
Ataxia
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
CUI: C0004134
Disease: Ataxia
Ataxia
0.100 GeneticVariation phenotype BEFREE Progression of tremor and ataxia in male carriers of the FMR1 premutation. 17133502 2007
CUI: C0004134
Disease: Ataxia
Ataxia
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
CUI: C0004134
Disease: Ataxia
Ataxia
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
CUI: C0004134
Disease: Ataxia
Ataxia
0.100 GeneticVariation phenotype LHGDN Penetrance of intention tremor and ataxia among adult carriers (aged > or =50 years) of premutation expansions of the FMR1 gene. 14747503 2004
CUI: C0004134
Disease: Ataxia
Ataxia
0.100 GeneticVariation 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
CUI: C0004134
Disease: Ataxia
Ataxia
0.100 GeneticVariation phenotype BEFREE Penetrance of intention tremor and ataxia among adult carriers (aged > or =50 years) of premutation expansions of the FMR1 gene. 14747503 2004
CUI: C0004134
Disease: Ataxia
Ataxia
0.100 GeneticVariation 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
CUI: C0004134
Disease: Ataxia
Ataxia
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
CUI: C0004134
Disease: Ataxia
Ataxia
0.100 Biomarker phenotype BEFREE The frequency of FMR1 premutations was 1.9% (1/54) in our group of patients with ataxia as the primary clinical feature, and 1.2% (1/86) in the larger movement disorders group. 21639881 2011
CUI: C0004134
Disease: Ataxia
Ataxia
0.100 Biomarker phenotype BEFREE We ascertained the contribution of FMR1 premutation to the phenotypes ataxia, tremor and/or parkinsonism. 18273822 2008
CUI: C0004134
Disease: Ataxia
Ataxia
0.100 Biomarker phenotype BEFREE Because of the high prevalence of FMR1 premutation in the general population, the description and characterization of the FXTAS syndrome is of great interest as it may represent one of the more common monogenic causes of ataxia, tremor, and dementia. 17917121 2007
CUI: C0004134
Disease: Ataxia
Ataxia
0.100 Biomarker phenotype BEFREE A quantitative assessment of tremor and ataxia in FMR1 premutation carriers using CATSYS. 18241072 2008
CUI: C0004134
Disease: Ataxia
Ataxia
0.100 Biomarker phenotype BEFREE Screening for FMR-1 premutations in 122 older Flemish males presenting with ataxia. 15483640 2005
CUI: C0004134
Disease: Ataxia
Ataxia
0.100 Biomarker phenotype BEFREE Combining our data with that of comparable published studies shows 17/1,320 (1.3%) males tested for adult-onset ataxia had FMR1 premutations. 18363164 2008
CUI: C0004134
Disease: Ataxia
Ataxia
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
CUI: C0004134
Disease: Ataxia
Ataxia
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