Cell type-specific gene expression profiles in CNS of patients with DM1

Myotonic dystrophy type 1 (DM1) is a multisystem genetic disorder involving the muscle, heart, and central nervous system (CNS). The pathogenesis of CNS symptoms prevalent in patients with DM1 remains unelucidated. To elucidate the CNS pathogenesis in DM1, we investigated cell type-specific abnormalities in cortical neurons, white matter glial cells, and spinal motor neurons of patients with DM1 via laser-capture microdissection(LCM). Overall design: We analyzed of mRNA expression in cortical neurons, white matter glial cells, and spinal motor neurons from three patients with DM1 and three disease controls.