在典型的成人神经元核内包涵体疾病(NIID)中,对基底神经节或大脑皮层有好感,不仅神经元,而且神经胶质细胞也含有核内内含物。此外,这些内含物存在于外周自主神经系统中,内脏器官和皮肤.在NIID情况下,在Notch2N端样C(NOTCH2NLC)基因的5'-非翻译区(5'-UTR)中GGC重复序列扩增,这些重复序列位于上游开放阅读框(uN2C),并导致产生一种名为uN2CpyG的含聚甘氨酸蛋白.通常,成人NIID患者在弥散加权脑磁共振成像中在皮质髓质交界处显示高强度信号.我们报告了一个78岁的日本男性的成人NIID病例,患有轻度疾病的人,生命期间非进行性震颤,但未显示提示成人NIID的影像学异常。病理上,泛素-,p62-和uN2CpyG阳性神经元核内包涵体在海马结构中特别常见,但也见于肠丛,肾脏和心肌.相比之下,神经胶质核内包涵体在受影响的区域几乎不明显.本病例的免疫组织化学特征也不同于典型的成人NIID。在这种情况下的研究结果表明,成人NIID可以显示临床,放射学和病理学异质性。
In typical adult neuronal intranuclear inclusion disease (NIID) with predilection for the basal ganglia or cerebral cortex, not only neurons but also glial cells harbor intranuclear inclusions. In addition, these inclusions are present in the peripheral autonomic nervous system, visceral organs and skin. In NIID cases with an expansion of GGC repeats in the 5\'-untranslated region (5\'-UTR) of the Notch 2 N-terminal like C (NOTCH2NLC) gene, these repeats are located in an upstream open reading frame (uN2C) and result in the production of a polyglycine-containing protein called uN2CpolyG. Typically, patients with adult NIID show high-intensity signals at the corticomedullary junction on diffusion-weighted brain magnetic resonance imaging. We report a case of adult NIID in a 78-year-old Japanese male, who suffered from mild, non-progressive tremor during life but showed no radiographic abnormalities suggestive of adult NIID. Pathologically, ubiquitin-, p62- and uN2CpolyG-positive neuronal intranuclear inclusions were particularly frequent in the hippocampal formation, but were also seen in the enteric plexuses, kidney and cardiac muscles. By contrast, glial intranuclear inclusions were barely evident in the affected regions. The present case also had an immunohistochemical profile differing from that of typical adult NIID. The findings in this case suggest that adult NIID can show clinical, radiographic and pathological heterogeneity.