Department of Neuropathology, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan.
Division of Neurology, Department of Medicine, Jichi Medical University School of Medicine, Tochigi, Japan.
Eur J Neurol. 2021 Jun;28(6):2133-2137. doi: 10.1111/ene.14720. Epub 2021 Jan 22.
To investigate prion protein (PrP) deposits in cutaneous tissues of patients of glycosylphosphatidylinositol (GPI)-anchorless prion diseases with neuropathy.
Cutaneous 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.
PrP 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.
Immunohistochemical detection of PrP in cutaneous samples could be used to definitively diagnose GPI-anchorless PrP disease with neuropathy.
研究无糖基磷脂酰肌醇（GPI）锚定的朊病毒病伴发神经病患者皮肤组织中的朊蛋白（PrP）沉积。
本研究获取了 3 例无 GPI 锚定的朊病毒病伴发神经病患者的皮肤组织样本，其中 2 例取自小腿（Y162X 和 D178fs25），1 例取自腹部尸检（D178fs25）。我们通过免疫组织化学方法检测 PrP，观察是否存在异常 PrP 沉积。
所有无 GPI 锚定的朊病毒病伴发神经病患者的皮肤真皮乳头、汗腺、毛囊、立毛肌和周围神经中均观察到 PrP 沉积。异常 PrP 蓄积常定位于基膜，与层粘连蛋白共定位。
通过对皮肤样本进行 PrP 的免疫组织化学检测，可明确诊断无 GPI 锚定的 PrP 病伴发神经病。
