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Figure 3 | Orphanet Journal of Rare Diseases

Figure 3

From: SETX mutations are a frequent genetic cause of juvenile and adult onset cerebellar ataxia with neuropathy and elevated serum alpha-fetoprotein

Figure 3

Brain MRI in AOA2 patients. Panels A-C show brain MRI images of patient the P641 with 36-year disease duration: (A) Mid-sagittal T1-weighted image showing marked atrophy of the vermis, and moderate atrophy of the midbrain; (B) Fluid attenuated Inversion Recovery Image (FLAIR), and (C) T2-weighted image confirm marked atrophy of the vermis and show atrophy of the cerebellar hemispheres without abnormal signal intensities of the cerebellar cortex. Panels D-F show an analogous sequence of brain MRI images from a younger AOA2 patient with 7-year disease duration (P2062). Note the moderate atrophy of the vermis and mild atrophy of the anterior portion of the cerebellar hemispheres without abnormal signal intensity. The midbrain was normal.

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Orphanet Journal of Rare Diseases

ISSN: 1750-1172