Lieberman A P, Trojanowski J Q, Leonard D G, Chen K L, Barnett J L, Leverenz J B, Bird T D, Robitaille Y, Malandrini A, Fischbeck K H
Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892, USA.
Ann Neurol. 1999 Aug;46(2):271-3. doi: 10.1002/1531-8249(199908)46:2<271::aid-ana21>3.0.co;2-m.
Neuronal intranuclear inclusion disease (NIID) is a multisystem neurodegenerative disorder characterized by large intranuclear aggregates in neurons of the central and peripheral nervous system. These ubiquitinated intranuclear inclusions are morphologically similar to the intraneuronal aggregates that have been identified in the CAG/polyglutamine expansion diseases. As rare aggregates in NIID contain a polyglutamine epitope, we further investigated the relationship between this disease and the CAG/polyglutamine expansion diseases. Here, we show that ataxin 1 and ataxin 3 proteins are recruited into aggregates in NIID in the absence of a CAG expansion in the SCA1 and SCA3 genes. These data support an association of NIID with the polyglutamine disorders and provide evidence of in vivo recruitment of proteins with polyglutamine tracts into intraneuronal aggregates.
神经元核内包涵体病（NIID）是一种多系统神经退行性疾病，其特征是中枢和外周神经系统神经元中出现大的核内聚集体。这些泛素化的核内包涵体在形态上与在CAG/多聚谷氨酰胺扩展疾病中鉴定出的神经元内聚集体相似。由于NIID中罕见的聚集体含有多聚谷氨酰胺表位，我们进一步研究了这种疾病与CAG/多聚谷氨酰胺扩展疾病之间的关系。在此，我们表明，在SCA1和SCA3基因不存在CAG扩展的情况下，共济失调蛋白1和共济失调蛋白3被募集到NIID的聚集体中。这些数据支持NIID与多聚谷氨酰胺疾病相关，并提供了体内具有多聚谷氨酰胺序列的蛋白质被募集到神经元内聚集体中的证据。
