Cerebellar Ataxia
|
0.100 |
Biomarker
|
phenotype |
BEFREE |
Recent studies have implicated glutamatergic targets of FMRP in hereditary cerebellar ataxias including the main cerebellar excitatory amino acid (Eaa1) transporter and a subtype of metabotropic glutamate receptor (Grm5).
|
30969437 |
2019 |
Cerebellar 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 |
Cerebellar 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 |
Cerebellar Ataxia
|
0.100 |
GeneticVariation
|
phenotype |
BEFREE |
In summary, the clinician should consider a FXTAS diagnosis and testing for the Fragile X mental retardation 1 (FMR1) gene premutation if a patient over the age of 50 (1) presents with cerebellar ataxia and/or intention tremor with mild parkinsonism, (2) has the middle cerebellar peduncle (MCP) sign, global cerebellar and cerebral atrophy, and/or subcortical white matter lesions on MRI, or (3) has a family history of fragile X related disorders, intellectual disability, autism, premature ovarian failure and has neurological signs consistent with FXTAS.
|
27414076 |
2016 |
Cerebellar 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 |
Cerebellar 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 |
Cerebellar 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 |
Cerebellar 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 |
Cerebellar Ataxia
|
0.100 |
Biomarker
|
phenotype |
BEFREE |
We ascertained the contribution of FMR1 premutation to the phenotypes ataxia, tremor and/or parkinsonism.
|
18273822 |
2008 |
Cerebellar Ataxia
|
0.100 |
Biomarker
|
phenotype |
BEFREE |
A quantitative assessment of tremor and ataxia in FMR1 premutation carriers using CATSYS.
|
18241072 |
2008 |
Cerebellar 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 |
Cerebellar 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 |
Cerebellar 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 |
Cerebellar 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 |
Cerebellar Ataxia
|
0.100 |
GeneticVariation
|
phenotype |
BEFREE |
Progression of tremor and ataxia in male carriers of the FMR1 premutation.
|
17133502 |
2007 |
Cerebellar Ataxia
|
0.100 |
GeneticVariation
|
phenotype |
BEFREE |
Expanded FMR1 alleles contribute to cases of late-onset sporadic cerebellar ataxia, suggesting that FMR1 genetic testing should be carried out in such cases.
|
16723388 |
2006 |
Cerebellar 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 |
Cerebellar 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 |
Cerebellar Ataxia
|
0.100 |
Biomarker
|
phenotype |
BEFREE |
Screening for FMR-1 premutations in 122 older Flemish males presenting with ataxia.
|
15483640 |
2005 |
Cerebellar Ataxia
|
0.100 |
GeneticVariation
|
phenotype |
BEFREE |
Two patients carried FMR1 premutations of 110 and 135 repeats: a man with a familial form of cerebellar ataxia and a woman diagnosed as having MSA-cerebellar type.
|
15956167 |
2005 |
Cerebellar Ataxia
|
0.100 |
GeneticVariation
|
phenotype |
BEFREE |
FMR1 gene premutation is a frequent genetic cause of late-onset sporadic cerebellar ataxia.
|
15642922 |
2005 |
Cerebellar 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 |
Cerebellar 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 |
Cerebellar 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 |
Cerebellar 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 |