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Detection of cutaneous prion protein deposits could help diagnose GPI‐anchorless prion disease with neuropathy
Author(s) -
Honda Hiroyuki,
Matsuzono Kosuke,
Satoh Kota,
Fujisawa Masayoshi,
Suzuki Satoshi O.,
Furuyama Chiaki,
Kitamoto Tetsuyuki,
Fujimoto Shigeru,
Abe Koji,
Iwaki Toru
Publication year - 2021
Publication title -
european journal of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.881
H-Index - 124
eISSN - 1468-1331
pISSN - 1351-5101
DOI - 10.1111/ene.14720
Subject(s) - pathology , immunohistochemistry , laminin , medicine , peripheral neuropathy , biology , extracellular matrix , microbiology and biotechnology , endocrinology , diabetes mellitus
Background and purpose To investigate prion protein (PrP) deposits in cutaneous tissues of patients of glycosylphosphatidylinositol (GPI)‐anchorless prion diseases with neuropathy. Methods 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. Results 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. Conclusion Immunohistochemical detection of PrP in cutaneous samples could be used to definitively diagnose GPI‐anchorless PrP disease with neuropathy.