[A pathomechanism for the genesis of dystonia: striatal compartments and hypothesized model of basal ganglia circuits].

X-linked recessive dystonia-parkinsonism (XDP; DYT3; Lubag) is an adult-onset disorder that manifests severe and progressive dystonia with a high frequency of generalization. In search for the anatomical basis for dystonia, we performed postmortem analyses of the functional anatomy of the basal ganglia based on the striatal compartments (i.e., the striosomes and matrix compartment) in XDP. Our study showed that in the XDP neostriatum, the matrix compartment is relatively spared in a mosaic pattern, whereas the striosomes are severely depleted. In view of the three-pathway basal ganglia model, we postulate that the disproportionate involvement of neostriatal compartments and their efferent projections may underlie the manifestation of dystonia in patients with XDP. This study is the first to show specific basal ganglia pathology that could explain the genesis of dystonia in human heredodegenerative movement disorders, suggesting that dystonia may result from an imbalance in the activity between the striosomal and matrix pathways.