Skin biopsy is useful for the antemortem diagnosis of neuronal intranuclear inclusion disease
Skin biopsy is useful for the antemortem diagnosis of neuronal intranuclear inclusion disease
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DOI：
10.1212/wnl.0b013e3182166e13
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发表时间：
2011-04-01
期刊：
影响因子：
9.9
通讯作者：
Sobue, G.
中科院分区：
文献类型：
--
作者：
Sone, J.;Tanaka, F.;Sobue, G.
背景：神经元核内包涵体病（NIID）是一种进行性神经退行性疾病，其特征是神经元和体细胞中出现嗜酸性透明核内包涵体。由于临床表现多种多样，NIID的生前诊断十分困难。方法：对7例家族性NIID患者的皮肤活检样本进行组织化学评估，并将结果与正常对照者和其他神经系统疾病患者的皮肤样本进行比较。我们还通过电子显微镜检查了 NIID 患者的皮肤活检样本。结果：在 NIID 皮肤活检样本中，在脂肪细胞、成纤维细胞和汗腺细胞中观察到核内包涵体。这些内含物用抗泛素和抗 SUMO1 抗体染色。电镜显示脂肪细胞、成纤维细胞和汗腺细胞的核内包涵体特征与神经元细胞相同。大约10%的脂肪细胞显示出核内包涵体。正常对照组和其他神经系统疾病患者的皮肤样本中未发现核内包涵体。结论：皮肤活检是一种有效且侵入性较小的 NIID 生前诊断工具。神经病学(R)2011; 76：1372-1376
Background: Neuronal intranuclear inclusion disease (NIID) is a progressive neurodegenerative disease characterized by eosinophilic hyaline intranuclear inclusions in neuronal and somatic cells. Because of the variety of clinical manifestations, antemortem diagnosis of NIID is difficult.Methods: Seven skin biopsy samples from patients with familial NIID were evaluated histochemically, and the results were compared with those of skin samples from normal control subjects and from patients with other neurologic diseases. We also examined skin biopsy samples from patients with NIID by electron microscopy.Results: In NIID skin biopsy samples, intranuclear inclusions were observed in adipocytes, fibroblasts, and sweat gland cells. These inclusions were stained with both anti-ubiquitin and anti-SUMO1 antibodies. Electron microscopy revealed that the features of the intranuclear inclusions in adipocytes, fibroblasts, and sweat gland cells were identical to those of neuronal cells. Approximately 10% of adipocytes showed intranuclear inclusions. No intranuclear inclusions were identified in the skin samples from normal control subjects and patients with other neurologic diseases.Conclusions: Skin biopsy is an effective and less invasive antemortem diagnostic tool for NIID. Neurology (R) 2011; 76: 1372-1376