Fragile X tremor ataxia syndrome (FXTAS): clinical features

FRAXopathies: classification

• Fragile X syndrome
• Fragile X tremor ataxia syndrome
• Premature ovarian failure

Diagnostic criteria

Demographic features

Tremor types

Cerebellar and cognitive features

Autonomic features

Other neurological features

Systemic features

Variant presentations

Differential diagnosis: causes of adult-inset ataxia and tremor

References

1. Leehey MA. Fragile X-associated tremor/ataxia syndrome (FXTAS): clinical phenotype, diagnosis and treatment. J Investig Med 2009; 57:830-836.
2. Garcia-Arocena D, Hagerman PJ. Advances in understanding the molecular basis of FXTAS. Hum Mol Genet 2010; 19:R83-R89.
3. 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.
4. 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.
5. Pirozzi F, Tabolacci E, Neri G. The FRAXopathies: definition, overview, and update. Am J Med Genet 2011; 155A:1803-1816.
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Related checklists

• Fragile X tremor ataxia syndrome (FXTAS): investigations