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Teaching NeuroImages: Brain MRI and DaT-SPECT imaging in adult GM1 gangliosidosis

A 58-year-old woman with genetically confirmed adult GM1 gangliosidosis (aGM1-g) presented with generalized dystonia that was later followed by akinetic-rigid parkinsonism. Brain MRI revealed hyperintensities in the bilateral putamen typically observed in this disease1 (figure, A and B), while DaT-SPECT (123I-Ioflupane) showed decreased radiotracer uptake in both basal ganglia, more evident on the left side (figure, C). Selective involvement of the basal ganglia in aGM1-g is thought to be related to a higher turnover of GM1 ganglioside in this region.2 Our report suggests a presynaptic pattern of dopaminergic dysfunction in this disease.

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