Pedigree and radiological features of the patients. A: Pedigree of the family. Black symbols indicate affected patients 1 and 2 (Pt1, Pt2). Genotypes of each tested individual are indicated under the corresponding symbols (GFAP G: wt; GFAP A: mutant; HDAC6 C: wt; HDAC6 T: mutant). I-3 died of colon cancer at 62 years of age; I-1died of unknown causes when he was over 80; II-3 died of a cerebral stroke at 60 years of age. B: Brain MRI findings of Pt1 (a-f) and Pt2 (g). Atrophy of the medulla is present, with signal abnormalities of the pyramidal tract and medial lemniscus (a, arrows). In the cerebellum, the hylum of the dentate nucleus is bilaterally hyperintense (a, thick arrows). At midbrain level (b,c), substantia nigra and medial lemniscus are hyperintense (b, arrows); a sub-pial rim of high signal intensity is present in the FLAIR image (c). Symmetrical signal abnormalities involve the pallida, particularly at the interface with the posterior limb of the internal capsule (d, arrows). Hyperintensitiy is present in the periventricular white matter, pre- and post-central gyri (e, arrows on the right) and subcortical frontobasal areas (f, arrows). The typical tadpole appearance of the brainstem and cervical spinal cord is seen in the midline sagittal section of Pt2 (g).
Melchionda et al. Orphanet Journal of Rare Diseases 2013 8:66 doi:10.1186/1750-1172-8-66