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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
- 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
- Famula JL et al: Presence of middle cerebellar peduncle sign in FMR1 premutation carriers without tremor and ataxia. Front Neurol. 9:695, 2018
- Mascalchi M et al: Neuroimaging Applications in Chronic Ataxias. Int Rev Neurobiol. 143:109-162, 2018
- 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
- Fasano A et al: MRI-guided focused ultrasound thalamotomy in fragile X-associated tremor/ataxia syndrome. Neurology. 87(7):736-8, 2016
- 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
- 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
- Famula JL et al: Presence of middle cerebellar peduncle sign in FMR1 premutation carriers without tremor and ataxia. Front Neurol. 9:695, 2018
- Mascalchi M et al: Neuroimaging Applications in Chronic Ataxias. Int Rev Neurobiol. 143:109-162, 2018
- 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
- Fasano A et al: MRI-guided focused ultrasound thalamotomy in fragile X-associated tremor/ataxia syndrome. Neurology. 87(7):736-8, 2016
- Filley CM: Fragile X tremor ataxia syndrome and white matter dementia. Clin Neuropsychol. 30(6):901-12, 2016
