Ubiquitinated filamentous inclusions in cerebellar dentate nucleus neurons in dentatorubral-pallidoluysian atrophy contain expanded polyglutamine stretches.

摘要: We have recently reported that, in addition to the widespread occurrence of ubiquitinated neuronal intranuclear inclusions (NIIs), restricted intracytoplasmic filamentous neurons cerebellar dentate nucleus (CDN) is a characteristic feature dentatorubral-pallidoluysian atrophy (DRPLA). Interestingly, these (NIFIs) were morphologically indistinguishable from skein-like (SLIs) described previously spinal anterior horn cells amyotrophic lateral sclerosis (ALS). In present study, we examined immunohistochemically CDN ten patients with clinicopathologically and genetically confirmed DRPLA horns five sporadic ALS, using monoclonal antibody (1C2) directed against long polyglutamine stretches. all DRPLA, both NIFIs NIIs visualized clearly 1C2. Conversely, ALS structures, including SLIs, completely negative. These findings indicate that are an alteration directly related causative gene abnormality (an expanded CAG repeat encoding polyglutamine) molecular point view, they distinct SLIs ALS.