2-carbomethoxy-8-(3-fluoropropyl)-3-(4-iodophenyl)tropane and Developmental-Disabilities

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. 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.. His brain MRI depicted basal ganglia signal abnormalities. Brain SPECT with DaTSCan images showed a global significant reduction of radiotracer uptake.. The findings obtained by means of the

Topics: Adult; Amino Acid Metabolism, Inborn Errors; Brain; Developmental Disabilities; Humans; Iodine Radioisotopes; Male; Radiopharmaceuticals; Succinate-Semialdehyde Dehydrogenase; Tomography, Emission-Computed, Single-Photon; Tropanes