Fragile X tremor ataxia syndrome (FXTAS): clinical features
Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .
Fragile X tremor ataxia syndrome (FXTAS): clinical features. Fragile X syndrome, Fragile X tremor ataxia syndrome. Fully referenced neurology checklist.
FRAXopathies: classification
- Fragile X syndrome
- Fragile X tremor ataxia syndrome
- Premature ovarian failure
Diagnostic criteria
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Demographic features
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Tremor types
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Cerebellar and cognitive features
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Autonomic features
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Other neurological features
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Systemic features
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Variant presentations
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Differential diagnosis: causes of adult-inset ataxia and tremor
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References
- Leehey MA. Fragile X-associated tremor/ataxia syndrome (FXTAS): clinical phenotype, diagnosis and treatment. J Investig Med 2009; 57:830-836.
- Garcia-Arocena D, Hagerman PJ. Advances in understanding the molecular basis of FXTAS. Hum Mol Genet 2010; 19:R83-R89.
- Jacquemont S, Hagerman RJ, Hagerman PJ, Leehey MA. Fragile-X syndrome and fragile X-associated tremor/ataxia syndrome: two faces of FMR1. Lancet Neurol 2007; 6:45-55.
- Berry-Kravis E, Abrams L, Coffey SM, et al. Fragile X-associated tremor/ataxia syndrome: clinical features, genetics, and testing guidelines. Mov Disord 2007; 22:2018-2030.
- Pirozzi F, Tabolacci E, Neri G. The FRAXopathies: definition, overview, and update. Am J Med Genet 2011; 155A:1803-1816.
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