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Detection of Vascular Notch3 Deposits in Unfixed Frozen Skin Biopsy Sample in CADASIL

This study aimed to evaluate the utility of immunohistochemical staining of vascular Notch3 deposits in biopsied unfixed frozen skin samples from patients with suspected cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). We analyzed vascular Notch3...

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Autores principales: Ueda, Akihiko, Nakajima, Makoto, Misumi, Yohei, Nakahara, Keiichi, Shinriki, Satoru, Tasaki, Masayoshi, Matsui, Hirotaka, Ueda, Mitsuharu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9239429/
https://www.ncbi.nlm.nih.gov/pubmed/35775048
http://dx.doi.org/10.3389/fneur.2022.881528
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author Ueda, Akihiko
Nakajima, Makoto
Misumi, Yohei
Nakahara, Keiichi
Shinriki, Satoru
Tasaki, Masayoshi
Matsui, Hirotaka
Ueda, Mitsuharu
author_facet Ueda, Akihiko
Nakajima, Makoto
Misumi, Yohei
Nakahara, Keiichi
Shinriki, Satoru
Tasaki, Masayoshi
Matsui, Hirotaka
Ueda, Mitsuharu
author_sort Ueda, Akihiko
collection PubMed
description This study aimed to evaluate the utility of immunohistochemical staining of vascular Notch3 deposits in biopsied unfixed frozen skin samples from patients with suspected cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). We analyzed vascular Notch3 deposits in unfixed frozen skin biopsy samples obtained from 43 patients with suspected CADASIL by immunohistochemistry using antibodies against the extracellular domain (ECD) of Notch3. We also sequenced the NOTCH3 gene in all patients, as well as evaluated their symptoms and neuroimages. We found granular Notch3 ECD deposits in the vessel walls of unfixed frozen skin biopsy samples in 10 of the 43 suspected patients with CADASIL. All 10 cases with skin Notch3 ECD deposits also carried reported pathogenic variants in the NOTCH3 gene associated with CADASIL. NOTCH3 variants of unknown significance were found in the other four patients without vascular Notch3 ECD or granular osmiophilic material deposits in biopsied skin samples. The remaining 29 cases without vascular Notch3 ECD deposits did not have variants in the NOTCH3 gene. Immunohistochemical evaluation of vascular Notch3 ECD deposits in unfixed frozen biopsied skin samples may be useful for detecting Notch3 deposits in CADASIL.
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spelling pubmed-92394292022-06-29 Detection of Vascular Notch3 Deposits in Unfixed Frozen Skin Biopsy Sample in CADASIL Ueda, Akihiko Nakajima, Makoto Misumi, Yohei Nakahara, Keiichi Shinriki, Satoru Tasaki, Masayoshi Matsui, Hirotaka Ueda, Mitsuharu Front Neurol Neurology This study aimed to evaluate the utility of immunohistochemical staining of vascular Notch3 deposits in biopsied unfixed frozen skin samples from patients with suspected cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). We analyzed vascular Notch3 deposits in unfixed frozen skin biopsy samples obtained from 43 patients with suspected CADASIL by immunohistochemistry using antibodies against the extracellular domain (ECD) of Notch3. We also sequenced the NOTCH3 gene in all patients, as well as evaluated their symptoms and neuroimages. We found granular Notch3 ECD deposits in the vessel walls of unfixed frozen skin biopsy samples in 10 of the 43 suspected patients with CADASIL. All 10 cases with skin Notch3 ECD deposits also carried reported pathogenic variants in the NOTCH3 gene associated with CADASIL. NOTCH3 variants of unknown significance were found in the other four patients without vascular Notch3 ECD or granular osmiophilic material deposits in biopsied skin samples. The remaining 29 cases without vascular Notch3 ECD deposits did not have variants in the NOTCH3 gene. Immunohistochemical evaluation of vascular Notch3 ECD deposits in unfixed frozen biopsied skin samples may be useful for detecting Notch3 deposits in CADASIL. Frontiers Media S.A. 2022-06-14 /pmc/articles/PMC9239429/ /pubmed/35775048 http://dx.doi.org/10.3389/fneur.2022.881528 Text en Copyright © 2022 Ueda, Nakajima, Misumi, Nakahara, Shinriki, Tasaki, Matsui and Ueda. https://creativecommons.org/licenses/by/4.0/This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
spellingShingle Neurology
Ueda, Akihiko
Nakajima, Makoto
Misumi, Yohei
Nakahara, Keiichi
Shinriki, Satoru
Tasaki, Masayoshi
Matsui, Hirotaka
Ueda, Mitsuharu
Detection of Vascular Notch3 Deposits in Unfixed Frozen Skin Biopsy Sample in CADASIL
title Detection of Vascular Notch3 Deposits in Unfixed Frozen Skin Biopsy Sample in CADASIL
title_full Detection of Vascular Notch3 Deposits in Unfixed Frozen Skin Biopsy Sample in CADASIL
title_fullStr Detection of Vascular Notch3 Deposits in Unfixed Frozen Skin Biopsy Sample in CADASIL
title_full_unstemmed Detection of Vascular Notch3 Deposits in Unfixed Frozen Skin Biopsy Sample in CADASIL
title_short Detection of Vascular Notch3 Deposits in Unfixed Frozen Skin Biopsy Sample in CADASIL
title_sort detection of vascular notch3 deposits in unfixed frozen skin biopsy sample in cadasil
topic Neurology
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9239429/
https://www.ncbi.nlm.nih.gov/pubmed/35775048
http://dx.doi.org/10.3389/fneur.2022.881528
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