Figure 2.

Cranial imaging in ATP13A2 HSP cases. Routine MRI in Patients HIH22132.II.1 (A) (disease duration 7 years), HSP84.II.3 (B) (disease duration 7 years), and HIH21480.II.3 (C) (disease duration 11 years). Images demonstrate vermian (white arrow) as well as hemispheric cerebellar atrophy (white arrowheads) that was progressive over time in Patient HIH22132.II.1 (not shown). Generalized cortical atrophy was present in all cases. In Patients HIH22132.II.1 (A) and HSP84.II.3 (B) an ‘ear of the lynx’ sign (T₂ hyperintensity of the anterior fornix of the corpus callosum, marked by an asterisk) was present, while periventricular white matter changes were more pronounced in Patient HIH21480.II.3 (C). The latter case also demonstrated thinning of the corpus callosum (C, marked by black arrow). (D) Transversal fused ¹²³I-FP-CIT SPECT and T₂-weighted MRI images of three representative sections of the striatum in Patient HIH21480.II.3 (red box) and a representative section of the striatum from a healthy adult (green box, far right). Patient HIH21480.II.3 demonstrates severely reduced striatal dopamine.