Detection of cutaneous prion protein deposits could help diagnose GPI-anchorless prion disease with neuropathy

Hiroyuki Honda; Kosuke Matsuzono; Kota Satoh; Masayoshi Fujisawa; Satoshi O. Suzuki; Chiaki Furuyama; Tetsuyuki Kitamoto; Shigeru Fujimoto; Koji Abe; Toru Iwaki

doi:10.1111/ene.14720

Detection of cutaneous prion protein deposits could help diagnose GPI-anchorless prion disease with neuropathy

Hiroyuki Honda, Kosuke Matsuzono, Kota Satoh, Masayoshi Fujisawa, Satoshi O. Suzuki, Chiaki Furuyama, Tetsuyuki Kitamoto, Shigeru Fujimoto, Koji Abe, Toru Iwaki

Research output: Contribution to journal › Article › peer-review

1 Citation (Scopus)

Abstract

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.

Original language	English
Pages (from-to)	2133-2137
Number of pages	5
Journal	European Journal of Neurology
Volume	28
Issue number	6
DOIs	https://doi.org/10.1111/ene.14720
Publication status	Published - Jun 2021
Externally published	Yes

Keywords

basement membrane
cutaneous biopsy
glycosylphosphatidylinositol anchor
laminin
prion

ASJC Scopus subject areas

Neurology
Clinical Neurology

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10.1111/ene.14720

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@article{b79770a8c46c4d2986ca331e47afb2e3,

title = "Detection of cutaneous prion protein deposits could help diagnose GPI-anchorless prion disease with neuropathy",

abstract = "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.",

keywords = "basement membrane, cutaneous biopsy, glycosylphosphatidylinositol anchor, laminin, prion",

author = "Hiroyuki Honda and Kosuke Matsuzono and Kota Satoh and Masayoshi Fujisawa and Suzuki, {Satoshi O.} and Chiaki Furuyama and Tetsuyuki Kitamoto and Shigeru Fujimoto and Koji Abe and Toru Iwaki",

note = "Funding Information: This study was supported by a Grant-in-Aid for Scientific Research (17K07097) from the Japan Society for the Promotion of Sciences (JSPS). The authors thank Ms. Sachiko Koyama, Ms. Hideko Noguchi (Department of Neuropathology, Kyushu University), and Ms. Shigemi Takami (The Research Support Center, Research Center for Human Disease Modeling, Kyushu University) for their technical assistance. They also thank Emily Crow, PhD, from Edanz Group (https://en-author-services.edanzgroup.com/) for editing a draft of this manuscript. Funding Information: H.H. received funding by Grant‐in‐Aid for Scientific Research (17K07097) from the Japan Society for the Promotion of Sciences (JSPS). All other authors report no disclosures. Publisher Copyright: {\textcopyright} 2021 European Academy of Neurology",

year = "2021",

month = jun,

doi = "10.1111/ene.14720",

language = "English",

volume = "28",

pages = "2133--2137",

journal = "European Journal of Neurology",

issn = "1351-5101",

publisher = "Wiley-Blackwell",

number = "6",

}

TY - JOUR

T1 - Detection of cutaneous prion protein deposits could help diagnose GPI-anchorless prion disease with neuropathy

AU - Honda, Hiroyuki

AU - Matsuzono, Kosuke

AU - Satoh, Kota

AU - Fujisawa, Masayoshi

AU - Suzuki, Satoshi O.

AU - Furuyama, Chiaki

AU - Kitamoto, Tetsuyuki

AU - Fujimoto, Shigeru

AU - Abe, Koji

AU - Iwaki, Toru

N1 - Funding Information: This study was supported by a Grant-in-Aid for Scientific Research (17K07097) from the Japan Society for the Promotion of Sciences (JSPS). The authors thank Ms. Sachiko Koyama, Ms. Hideko Noguchi (Department of Neuropathology, Kyushu University), and Ms. Shigemi Takami (The Research Support Center, Research Center for Human Disease Modeling, Kyushu University) for their technical assistance. They also thank Emily Crow, PhD, from Edanz Group (https://en-author-services.edanzgroup.com/) for editing a draft of this manuscript. Funding Information: H.H. received funding by Grant‐in‐Aid for Scientific Research (17K07097) from the Japan Society for the Promotion of Sciences (JSPS). All other authors report no disclosures. Publisher Copyright: © 2021 European Academy of Neurology

PY - 2021/6

Y1 - 2021/6

N2 - 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.

AB - 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.

KW - basement membrane

KW - cutaneous biopsy

KW - glycosylphosphatidylinositol anchor

KW - laminin

KW - prion

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U2 - 10.1111/ene.14720

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SN - 1351-5101

VL - 28

SP - 2133

EP - 2137

JO - European Journal of Neurology

JF - European Journal of Neurology

IS - 6

ER -

Detection of cutaneous prion protein deposits could help diagnose GPI-anchorless prion disease with neuropathy

Abstract

Keywords

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