Hereditary dentatorubral-pallidoluysian atrophy : detection of widespread ubiquitinated neuronal and glial intranuclear inclusions in the brain

摘要: We examined the brains and spinal cords of seven patients with clinicopathologically genetically confirmed hereditary dentatorubral-pallidoluysian atrophy (DRPLA) using an antibody against ubiquitin, found small, round immunoreactive intranuclear inclusions in both neurons glial cells various brain regions. Ubiquitinated neuronal (uNIIs) were consistently striatum, pontine nuclei, inferior olivary complex, cerebellar cortex dentate nucleus. (uGIIs) less frequently than uNIIs. Most inclusion-bearing nuclei astrocytic nature. Immunostaining DRPLA protein revealed similar inclusions, but much smaller numbers compared uNIIs uGIIs. Electron microscopy showed that such composed granular filamentous structures. These findings strongly suggest that, DRPLA, occurrence uGIIs is directly related to causative gene abnormality (an expanded CAG repeat encoding polyglutamine), are affected more widely previously recognized also involved disease process.