Detection of cutaneous prion protein deposits could help diagnose GPI‐anchorless prion disease with neuropathy
Detection of cutaneous prion protein deposits could help diagnose GPI‐anchorless prion disease with neuropathy
复制标题
检测皮肤朊病毒蛋白沉积物有助于诊断伴有神经病变的 GPI 无锚朊病毒病
DOI：
10.1111/ene.14720
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发表时间：
2021
影响因子：
5.1
通讯作者：
Iwaki Toru
中科院分区：
文献类型：
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作者：
Honda Hiroyuki;Matsuzono Kosuke;Satoh Kota;Fujisawa Masayoshi;Suzuki Satoshi O.;Furuyama Chiaki;Kitamoto Tetsuyuki;Fujimoto Shigeru;Abe Koji;Iwaki Toru
背景与目的探讨糖基磷脂酰肌醇（GPI）无锚定朊蛋白病伴神经病变患者皮肤组织中朊蛋白（PrP）的沉积。方法从3例GPI‐锚定性朊病毒疾病患者获得皮肤组织样本，病例1 （Y162X）和病例3 （D178fs25）的下肢皮肤活检样本，以及病例2 （D178fs25）尸检时腹部皮肤样本。我们对PrP进行了免疫组化，以寻找异常的PrP沉积。结果所有GPI -锚定型朊病毒病伴神经病变患者的真皮乳头、汗腺、毛囊、立毛肌和周围神经均可见sprp沉积。异常的PrP积累常定位于基底膜，并与层粘连蛋白共定位。结论皮肤标本中PrP免疫组化检测可明确诊断无GPI锚定PrP病伴神经病变。
Background and purposeTo investigate prion protein (PrP) deposits in cutaneous tissues of patients of glycosylphosphatidylinositol (GPI)‐anchorless prion diseases with neuropathy.MethodsCutaneous tissue samples from three patients with GPI‐anchorless prion diseases were obtained, two cutaneous biopsy samples from the lower leg of Case 1 (Y162X) and Case 3 (D178fs25), and a cutaneous sample taken from the abdomen during an autopsy of Case 2 (D178fs25). We performed immunohistochemistry for PrP to look for abnormal PrP deposits.ResultsPrP deposits were observed in the dermal papilla, the sweat glands, the hair follicles, the arrector pili muscles, and peripheral nerves of all examined cases of GPI‐anchorless prion disease with neuropathy. The abnormal PrP accumulation was frequently localized at the basement membrane, and colocalized with laminin.ConclusionImmunohistochemical detection of PrP in cutaneous samples could be used to definitively diagnose GPI‐anchorless PrP disease with neuropathy.