PMC4427152_01
Sagittal T2-weighted MRI sequence of the FHM1 case. The MRI sequence reveals a cerebellar atrophy most pronounced in the vermis.
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F1
After 1 year, the MRI was repeated without any signs of progression (fig. 1, fig. 2), and additionally, short echo time MR spectroscopies from volumes of interest in occipito-parietal white matter and mid-occipital grey matter were found to be normal.
SPECT imaging of DAT. The figure shows images of [123I]FP-CIT binding to DAT in a healthy control (left) and in the FHM1 case. DAT availability in the striatum, i.e., the ratio of specifically bound radioligand to that of non-displaceable radioligand, was severely reduced bilaterally. The reduction in DAT availability was most prominent in the putamen on the left side (approx. 39% in of the value expected in a group of age-matched controls).
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F3
A decreased DAT-SPECT density in the striatum most prominent on the left side, and a reduced putamen/caudate ratio bilaterally, were demonstrated (fig. 3).