Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS): Cardinal Radiological Signs

Authors

  • Joana Pona-Ferreira Serviço de Neurologia, ULS Trás-os-Montes e Alto Douro, Vila Real, Portugal https://orcid.org/0009-0002-3633-2827
  • Mariana Vargas Serviço de Neurologia, ULS Trás-os-Montes e Alto Douro, Vila Real, Portugal
  • João Paulo Gabriel Serviço de Neurologia, ULS Trás-os-Montes e Alto Douro, Vila Real, Portugal
  • Ana Graça Velon Serviço de Neurologia, ULS Trás-os-Montes e Alto Douro, Vila Real, Portugal

DOI:

https://doi.org/10.46531/sinapse/IN/183/2026

Keywords:

Ataxia, Fragile X Syndrome, Magnetic Resonance Imaging, Tremor

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References

Hagerman RJ, Hagerman PJ. The Spectrum of Fragile X Disorders. N Engl J Med. 2025;393:281-8. doi: 10.1056/NEJMra2300487.

Cabal-Herrera AM, Tassanakijpanich N, Salcedo-Arellano MJ, Hagerman RJ. Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS): Pathophysiology and Clinical Implications. Int J Mol Sci. 2020;21:4391. doi: 10.3390/ijms21124391.

Hagerman RJ, Hagerman P. Fragile X-associated tremor/ataxia syndrome - features, mechanisms and management. Nat Rev Neurol. 2016;12:403-12. doi: 10.1038/nneurol.2016.82.

Hagerman R, Hagerman P. Fragile X-associated tremor/ataxia syndrome: pathophysiology and management. Curr Opin Neurol. 2021;34:541-6. doi: 10.1097/WCO.0000000000000954.

Zafarullah M, Tassone F. Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS). Methods Mol Biol. 2019;1942:173-89. doi: 10.1007/978-1-4939-9080-1_15.

Tamanini JV, Ribeiro GA, Kimura AT, Borella LF, Freddi TA, Reis F. Hyperintense lesions of the middle cerebellar peduncle and beyond: a pictorial essay. Radiol Bras. 2025;57:e20240001. doi: 10.1590/0100-3984.2024.0001.

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Published

2026-09-20

How to Cite

1.
Pona-Ferreira J, Vargas M, Gabriel JP, Velon AG. Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS): Cardinal Radiological Signs. Sinapse [Internet]. 2026 Sep. 20 [cited 2026 Sep. 25];. Available from: https://sinapse.pt/index.php/journal/article/view/183

Issue

Section

Images in Neurology

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