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Fragile X-Associated Tremor/Ataxia (FXTAS)
Miral D. Jhaveri, MD, MBA
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KEY FACTS

  • Terminology

    • Imaging

      • Top Differential Diagnoses

        • Pathology

          • Clinical Issues

            TERMINOLOGY

            • Abbreviations

              • Fragile X-associated tremor/ataxia syndrome (FXTAS)
            • Definitions

              • X-linked progressive neurodegenerative disorder characterized by 55-200 CGG trinucleotide repeats in FMR1 gene

            IMAGING

            • General Features

              • CT Findings

                • MR Findings

                  • Imaging Recommendations

                    DIFFERENTIAL DIAGNOSIS

                      PATHOLOGY

                      • General Features

                        • Staging, Grading, & Classification

                          • Microscopic Features

                            CLINICAL ISSUES

                            • Presentation

                              • Demographics

                                • Natural History & Prognosis

                                  • Treatment

                                    DIAGNOSTIC CHECKLIST

                                    • Consider

                                      Selected References

                                      1. Cvejic RC et al: Reduced caudate volume and cognitive slowing in men at risk of fragile X-associated tremor ataxia syndrome. Brain Imaging Behav. ePub, 2018
                                      2. Famula JL et al: Presence of middle cerebellar peduncle sign in FMR1 premutation carriers without tremor and ataxia. Front Neurol. 9:695, 2018
                                      3. Mascalchi M et al: Neuroimaging Applications in Chronic Ataxias. Int Rev Neurobiol. 143:109-162, 2018
                                      4. Hall DA et al: The corpus callosum splenium sign in fragile X-associated tremor ataxia syndrome. Mov Disord Clin Pract. 4(3):383-8, 2017
                                      5. Fasano A et al: MRI-guided focused ultrasound thalamotomy in fragile X-associated tremor/ataxia syndrome. Neurology. 87(7):736-8, 2016
                                      6. Filley CM: Fragile X tremor ataxia syndrome and white matter dementia. Clin Neuropsychol. 30(6):901-12, 2016
                                      Related Anatomy
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                                      Related Differential Diagnoses
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                                      References
                                      Tables

                                      Tables

                                      KEY FACTS

                                      • Terminology

                                        • Imaging

                                          • Top Differential Diagnoses

                                            • Pathology

                                              • Clinical Issues

                                                TERMINOLOGY

                                                • Abbreviations

                                                  • Fragile X-associated tremor/ataxia syndrome (FXTAS)
                                                • Definitions

                                                  • X-linked progressive neurodegenerative disorder characterized by 55-200 CGG trinucleotide repeats in FMR1 gene

                                                IMAGING

                                                • General Features

                                                  • CT Findings

                                                    • MR Findings

                                                      • Imaging Recommendations

                                                        DIFFERENTIAL DIAGNOSIS

                                                          PATHOLOGY

                                                          • General Features

                                                            • Staging, Grading, & Classification

                                                              • Microscopic Features

                                                                CLINICAL ISSUES

                                                                • Presentation

                                                                  • Demographics

                                                                    • Natural History & Prognosis

                                                                      • Treatment

                                                                        DIAGNOSTIC CHECKLIST

                                                                        • Consider

                                                                          Selected References

                                                                          1. Cvejic RC et al: Reduced caudate volume and cognitive slowing in men at risk of fragile X-associated tremor ataxia syndrome. Brain Imaging Behav. ePub, 2018
                                                                          2. Famula JL et al: Presence of middle cerebellar peduncle sign in FMR1 premutation carriers without tremor and ataxia. Front Neurol. 9:695, 2018
                                                                          3. Mascalchi M et al: Neuroimaging Applications in Chronic Ataxias. Int Rev Neurobiol. 143:109-162, 2018
                                                                          4. Hall DA et al: The corpus callosum splenium sign in fragile X-associated tremor ataxia syndrome. Mov Disord Clin Pract. 4(3):383-8, 2017
                                                                          5. Fasano A et al: MRI-guided focused ultrasound thalamotomy in fragile X-associated tremor/ataxia syndrome. Neurology. 87(7):736-8, 2016
                                                                          6. Filley CM: Fragile X tremor ataxia syndrome and white matter dementia. Clin Neuropsychol. 30(6):901-12, 2016