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How do health care providers diagnose Fragile X-Associated Tremor and Ataxia Syndrome (FXTAS)?

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Health care providers can order a blood test to determine if a person who has symptoms of FXTAS is a carrier. A laboratory will conduct the tests to determine what form of the FMR1 gene is present.1 (Read a detailed explanation of the genetics of the FMR1 gene in the section How are genes altered in fragile X-associated disorders?)

However, FXTAS is often misdiagnosed. The condition was identified only recently―in 2001—so it is not as familiar to health care providers as other common disorders in seniors, such as Alzheimer's disease and Parkinson's disease. The similarity of symptoms can lead some health care providers to pursue those conditions before considering FXTAS. Many of the FXTAS symptoms, such as memory problems and balance problems, may also be seen as natural parts of aging.

A health care provider may use a combination of a blood test, symptoms, and information from brain imaging, such as magnetic resonance imaging (MRI), to confirm a FXTAS diagnosis.2 In about 60% of men and 13% of women with FXTAS, the MRI will show white matter lesions (areas of dead cells) in the middle cerebellar peduncle of the brain. This is called the MCP sign.3


  1. National Fragile X Foundation. (2012). Testing. Retrieved August 21, 2012, from http://www.fragilex.org/fragile-x-associated-disorders/testing/ External Web Site Policy [top]
  2. Leehey, M. A. (2009). Fragile X-associated tremor/ataxia syndrome (FXTAS): clinical phenotype, diagnosis and treatment. Journal of Investigative Medicine, 57, 830–836. [top]
  3. National Fragile X Foundation. (2011). Practice guidelines for FragileX-associated disorders: Fragile X-associated Tremor/Ataxia Syndrome (FXTAS). Retrieved May 18, 2012, from http://www.fxtas.org/pdf/FragileX-associatedTremor-AtaxiaSyndrome.pdf External Web Site Policy (PDF - 467 KB) [top]

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Last Updated Date: 11/30/2012
Last Reviewed Date: 11/30/2012
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