|
Action Tremor
|
0.200 |
Biomarker
|
phenotype |
BEFREE |
Fragile X-associated tremor/ataxia syndrome is a progressive neurodegenerative disease that occurs in premutation carriers of 55-200 CGG repeats in FMR1 and is characterized by kinetic tremor, gait ataxia, parkinsonism, executive dysfunction, and neuropathy.
|
29325626 |
2018 |
|
Action Tremor
|
0.200 |
GeneticVariation
|
phenotype |
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 |
|
Action Tremor
|
0.200 |
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 |
|
Action Tremor
|
0.200 |
AlteredExpression
|
phenotype |
BEFREE |
Across all patients, body bradykinesia scores significantly correlated with FXTAS clinical stage, FMR1 mRNA level, and ataxic gait of cerebellar origin, while postural instability was associated with intention tremor.
|
24491663 |
2014 |
|
Action Tremor
|
0.200 |
Biomarker
|
phenotype |
BEFREE |
Carriers of fragile X mental retardation 1 (FMR1) repeat expansions in the premutation range (55-200 CGG repeats) often develop a syndrome of kinetic tremor, cerebellar ataxia, and parkinsonism; designated the fragile X-associated tremor ataxia syndrome (FXTAS).
|
22161987 |
2012 |
|
Action Tremor
|
0.200 |
GeneticVariation
|
phenotype |
BEFREE |
Fragile X-associated tremor/ataxia syndrome (FXTAS), which occurs in some premutation carriers of the fragile X mental retardation 1 (FMR1) gene, is a neurodegenerative disorder characterized by action tremor, gait ataxia, and impaired executive cognitive functioning.
|
19404994 |
2009 |
|
Action Tremor
|
0.200 |
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 |
|
Action Tremor
|
0.200 |
GeneticVariation
|
phenotype |
BEFREE |
Premutation alleles of the fragile X mental retardation 1 (FMR1) gene give rise to a late-onset movement disorder, fragile X-associated tremor/ataxia syndrome (FXTAS), characterized by progressive intention tremor and gait ataxia, with associated dementia and global brain atrophy.
|
17133502 |
2007 |
|
Action Tremor
|
0.200 |
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 |
|
Action Tremor
|
0.200 |
Biomarker
|
phenotype |
BEFREE |
The FMR1 CGG repeat mouse displays ubiquitin-positive intranuclear neuronal inclusions; implications for the cerebellar tremor/ataxia syndrome.
|
12700164 |
2003 |
|
Action Tremor
|
0.200 |
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 |
|
Action Tremor
|
0.200 |
Biomarker
|
phenotype |
HPO |
|
|
|