Background: Succinic semialdehyde dehydrogenase (SSADH) deficiency is a rare autosomal
recessive disorder. Neuroimaging findings are commonly considered rather non-specific. To
date, no neuroreceptorial brain imaging with 123I-FP-CIT(DaTScan) is known in subjects with SSADH
Methods: A 30-year-old man gained our attention to rule out any potential nigrostriatal dopaminergic
presynaptic pathway alterations in a clinical context of a γ-hydroxybutyric aciduria. He showed impossibility
to the autonomous gait, head and trunk retropulsion, lower limbs strength deficit, verbal and
upper limbs motor stereotypies and irregular eye tracking.
Results: His brain MRI depicted basal ganglia signal abnormalities. Brain SPECT with DaTSCan images
showed a global significant reduction of radiotracer uptake.
Conclusions: The findings obtained by means of the 123I-DaTScan brain SPECT may give rise to new
concerns on pathophysiological aspects of the SSADH deficiency disorder that has never been investigated
before, such as the nigrostriatal dopaminergic system’s functionality, encouraging further investigation.