Department of Neurology, The Affiliated Hospital of Xuzhou Medical University, Xuzhou City, China.
Department of Pathology Guangzhou, Guangzhou KingMed Laboratory Center, Guangzhou, China.
Eur J Neurol. 2024 Jan;31(1):e16102. doi: 10.1111/ene.16102. Epub 2023 Oct 12.
Neuronal intranuclear inclusion disease (NIID) poses a diagnostic challenge because of its diverse clinical manifestations. Detection of intranuclear inclusions remains the primary diagnostic criterion for NIID. Skin biopsies have traditionally been used, but concerns exist regarding postoperative complications and scarring. We sought to investigate the diagnostic utility of labial salivary gland biopsy, a less invasive alternative.
This study included a total of 19 patients and 11 asymptomatic carriers who underwent labial gland biopsies, while 10 patients opted for skin biopsies. All these individuals were confirmed to have pathogenic GGC repeat expansions in the NOTCH2NLC gene. The control group comprised 20 individuals matched for age and sex, all with nonpathogenic GGC repeat expansions, and their labial gland tissue was sourced from oral surgery specimens.
Labial gland biopsies proved to be a highly effective diagnostic method in detecting eosinophilic intranuclear inclusions in NIID patients. The inclusions showed positive staining for p62 and ubiquitin, confirming their pathological significance. The presence of uN2CpolyG protein in the labial gland tissue further supported the diagnosis. Importantly, all patients who underwent lip gland biopsy experienced fast wound healing without any noticeable scarring. In contrast, skin biopsies led to varying degrees of scarring and one instance of a localized infection.
Labial salivary gland biopsy emerged as a minimally invasive, efficient diagnostic method for NIID, with rapid healing and excellent sensitivity.
神经元核内包涵体病（NIID）临床表现多样，诊断具有挑战性。核内包涵体的检测仍然是 NIID 的主要诊断标准。传统上使用皮肤活检，但存在术后并发症和瘢痕的担忧。我们旨在研究唇腺活检的诊断效用，这是一种微创的替代方法。
本研究共纳入 19 名患者和 11 名无症状携带者，他们均接受了唇腺活检，而 10 名患者选择了皮肤活检。所有这些个体均被证实存在 NOTCH2NLC 基因中致病性 GGC 重复扩增。对照组包括 20 名年龄和性别匹配的个体，他们均具有非致病性 GGC 重复扩增，其唇腺组织来自口腔外科标本。
唇腺活检被证明是一种非常有效的诊断方法，可在 NIID 患者中检测到嗜酸性核内包涵体。这些包涵体对 p62 和泛素呈阳性染色，证实了其病理学意义。唇腺组织中存在 uN2CpolyG 蛋白进一步支持了诊断。重要的是，所有接受唇腺活检的患者均经历了快速的伤口愈合，没有明显的瘢痕。相比之下，皮肤活检导致不同程度的瘢痕和一处局部感染。
唇腺活检是一种微创、高效的 NIID 诊断方法，具有快速愈合和出色的敏感性。
