Article Figures & Data
Figures
- Fig 1.
Representative case (patient 1). A 49-year-old male patient with a genetically confirmed diagnosis of FXTAS (CGG 115). Coronal (A) and sagittal (B) FLAIR images demonstrate cerebellar atrophy and a high signal intensity in the paravermal area (arrows). C, DWI shows abnormal high-intensity signal along the corticomedullary junction (arrowheads).
- Fig 2.
Representative case (patient 2). A 69-year-old male patient with slowly progressive ataxia, tremor, and paraparesis. Axial FLAIR image (A) shows bilateral abnormal high signal intensity in the middle cerebellar peduncles (arrows). Axial DWI (b = 1000 s/mm2) (B) image depicts similar signal changes along the corticomedullary junction (arrowheads). Genetic investigation showed 100 CGG repetition (premutation) of the FMR1 gene, which confirmed FXTAS.
