Striatal cell type specific molecular signatures in a model of dystonia
Striatal dysfunction is implicated in various forms of dystonia, including idiopathic, inherited, and iatrogenic types. The striatum is primarily composed of GABAergic spiny projection neurons or SPNs , which are characterized by their long-range efferents. Abnormalities in both direct pathway SPNs and indirect pathway SPNs contribute to dystonia; however, the molecular adaptations underlying these abnormalities remain unknown. Here, we present a comprehensive analysis of SPN cell type specific molecular signatures in a model of DOPA responsive dystonia (DRD) in mice. DRD is caused by gene defects that impair dopamine neurotransmission, leading to dystonia specifically linked to striatal dysfunction.