By examining two previously described families with rapid onset dystonia parkinsonism, we have identified a key recombination event that places the disease locus (DYT12) into a 5.9 cM interval flanked by markers D19S224 and D19S900. Evaluation of a positional candidate gene, the glutamate receptor subunit GRIK5, revealed no mutations.
- Kainate receptor
- Rapid-onset dystonia-parkinsonism
ASJC Scopus subject areas
- Clinical Neurology