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.

123I-FP-CIT brain SPECT findings in succinic semialdehyde dehydrogenase (SSADH) deficiency / Frantellizzi, Viviana; Pontico, Mariano; Pani, Arianna; De Feo, Maria Silvia; De Vincentis, Giuseppe. - In: CURRENT RADIOPHARMACEUTICALS. - ISSN 1874-4710. - 14:1(2021), pp. 78-83.

123I-FP-CIT brain SPECT findings in succinic semialdehyde dehydrogenase (SSADH) deficiency

Frantellizzi, Viviana
Primo
;
Pontico, Mariano
Secondo
;
De Feo, Maria Silvia
Penultimo
;
De Vincentis, Giuseppe
Ultimo
2021

Abstract

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.
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Utilizza questo identificativo per citare o creare un link a questo documento: http://hdl.handle.net/11573/1383585
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