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DAT-SPECT findings in POLR3A-related striatal variant: a case report and literature review
Fabio Bruschi1, Ylenia Vaia1, Clara Eleonora Antonello2
1COALA (Center for Diagnosis and Treatment of Leukodystrophies and Genetic Leukoencephalopathies), Unit of Pediatric Neurology, Vittore Buzzi Children's Hospital, Milan, Italy; Neuroscience Research Center, Department of Biomedical and Clinical Sciences "Luigi Sacco", University of Milan, Milan, Italy.
Abstract:
The POLR3A striatal variant manifests with prominent extrapyramidal signs, ranging from early-onset dyskinetic syndromes to juvenile parkinsonism. This case report offers the first DAT SPECT evidence of nigrostriatal involvement, revealing significant reductions in striatal binding and decreased putamen-to-caudate ratios. These findings provide preliminary in vivo functional evidence of presynaptic dopaminergic involvement, offering a valuable biological correlate for the clinical phenotype.
