Distribution of the mRNAs encoding torsinA and torsinB in the normal adulthuman brain

To gain insight into the neural pathways involved in the pathogenesis of DY T1 dystonia, we have mapped the cellular expression of the mRNA encoding to rsinA and the closely related family member, torsinB, in normal adult human brain. Here, we report an intense expression of torsinA mRNA in the substa ntia nigra pars compacta dopamine neurons, the locus ceruleus, the cerebell ar dentate nucleus, Purkinje cells, the basis pontis, numerous thalamic nuc lei, the pedunculopontine nucleus, the oculomotor nucleus, the hippocampal formation, and the frontal cortex. Within the caudate-putamen, the cellular expression of torsinA mRNA was heterogeneous; a moderate signal was found overlying large cholinergic neurons, and most striatal neurons exhibited on ly a very weak signal. A moderate signal was detected in numerous midbrain and hindbrain nuclei. A weak cellular signal was detected in neurons of the globus pallidus and subthalamic nucleus. In marked contrast to torsinA, no specific mRNA signal was detected for torsinB. That torsinA mRNA is enrich ed in several basal ganglia nuclei, including the dopamine neurons in the s ubstantia nigra, is intriguing since it suggests that DYT1 dystonia may be associated with a dysfunction in dopamine transmission.