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Current Radiopharmaceuticals


ISSN (Print): 1874-4710
ISSN (Online): 1874-4729

Case Report

123I-FP-CIT Brain SPECT Findings in Succinic Semialdehyde Dehydrogenase (SSADH) Deficiency

Author(s): Viviana Frantellizzi*, Mariano Pontico , Arianna Pani , Maria Silvia De Feo and Giuseppe De Vincentis

Volume 14 , Issue 1 , 2021

Published on: 25 March, 2020

Page: [78 - 83] Pages: 6

DOI: 10.2174/1874471013666200325101302

Price: $65


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 deficiency.

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.

Keywords: SSADH deficiency, γ-hydroxybutyric aciduria, neuroreceptorial imaging, 123I-FP-CIT SPECT, DaTScan, presynaptic dopaminergic system.

Graphical Abstract
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