Muscle Biopsy Findings in Valosin-Containing Protein Multisystem Proteinopathy Article Swipe

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Marianela Schiava , Yolande Parkhurst , Matthew Henderson , Tuomo Polvikoski , Manouela V. Valtcheva , Ichizo Nishino , Michio Inoue , Yukako Nishimori , Yoshihiko Saito , Tanya Stojkovic , Rocío N. Villar‐Quiles , Norma B. Romero , Teresinha Evangelista , Edoardo Malfatti , Sarah Souvannanorath , Elena Pegoraro , Pietro Riguzzi , Mauro Monforte , Sara Bortolani , Eleonora Torchia , Mario Sabatelli , Giorgio Tasca , Volker Straub , C. Marini-Bettolo , Michela Guglieri , Hakan Çetin , Ellen Gelpí , Sigrid Klotz , Jan De Bleecker , Alicia Alonso‐Jiménez , Jonathan Baets , Willem De Ridder , Peter De Jonghe , Kristl G. Claeys , Dietmar Rudolf Thal , Jorge A. Bevilacqua , Sushan Luo , Wenhua Zhu , Jie Lin , George K. Papadimas , Constantinos Papadopoulos , Eleni Zamba‐Papanicolaou , Sophia Xirou , Endre Pál , Carmelo Rodolico , Anna Kostera‐Pruszczyk , Biruta Kierdaszuk , Anna Kamińska , Nuria Muelas , Juan J. Vílchez , Cristina Domínguez‐González , Aurelio Hernández‐Laín , Jorge Alonso‐Pérez , Velina Nedkova-Hristova , Carlos Aledo , Anders Oldfors , Umesh A. Badrising , Hani Kushlaf , Thomas E. Lloyd , Chiseko Ikenaga , Lindsay N. Alfano , Colin Quinn , David Walk , Matthias Vorgerd , Conrad C. Weihl , Montse Olivé , Jordi Díaz‐Manera , Adolfo López de Munaín , Alba Ramos‐Fransí , Aleksandra Nadaj-Pakleza , Alicia Martínez‐Piñeiro , Ana Töpf , Anna Mayhew , Anna Rydelius , Anthony Béhin , António Toscano , Béatrice Lannes , Beatriz Gómez , Benedikt Schoser , Bjarne Udd , Boél De Paepe , B. Eymard , Carla Marco Cazcarra , Carmen Paradas , Carola Hedberg‐Oldfors , Channa Hewamadduma , Cheryl Longman , Christopher Nance , Corinne Métay , David Hilton‐Jones , Edmar Zanotelli , Elizabeth A. Harrington , Ellen Eline , Eloy Rivas , Francesc Miralles , George Manousakis , Gianni Sorarù , Giulia Bisogni , Giuseppe Lucente , Guillaume Bassez ·

YOU? · · 2025 · Open Access · · DOI: https://doi.org/10.1212/nxg.0000000000200265

VCP-MSP muscle biopsies consistently show myopathic or mixed patterns with rimmed vacuoles and p62/VCP-positive inclusions, regardless of clinical phenotype, age, or progression. Some lack vacuoles, challenging diagnosis. Discrepancies between clinical, neurophysiology, and biopsy findings should prompt consideration of VCP-MSP to improve detection and management.

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Concepts

Muscle biopsy Biopsy Medicine Pathology Myopathy Pathognomonic Inflammatory myopathy Disease

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Type: article
Language: en
Landing Page: https://doi.org/10.1212/nxg.0000000000200265
PDF: https://www.neurology.org/doi/pdf/10.1212/NXG.0000000000200265
OA Status: gold
Cited By: 1
References: 65
Related Works: 10
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DOI: https://doi.org/10.1212/nxg.0000000000200265

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Title: Muscle Biopsy Findings in Valosin-Containing Protein Multisystem Proteinopathy

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Language: en

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Publication year: 2025

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Publication date: 2025-07-16

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Authors: Marianela Schiava, Yolande Parkhurst, Matthew Henderson, Tuomo Polvikoski, Manouela V. Valtcheva, Ichizo Nishino, Michio Inoue, Yukako Nishimori, Yoshihiko Saito, Tanya Stojkovic, Rocío N. Villar‐Quiles, Norma B. Romero, Teresinha Evangelista, Edoardo Malfatti, Sarah Souvannanorath, Elena Pegoraro, Pietro Riguzzi, Mauro Monforte, Sara Bortolani, Eleonora Torchia, Mario Sabatelli, Giorgio Tasca, Volker Straub, C. Marini-Bettolo, Michela Guglieri, Hakan Çetin, Ellen Gelpí, Sigrid Klotz, Jan De Bleecker, Alicia Alonso‐Jiménez, Jonathan Baets, Willem De Ridder, Peter De Jonghe, Kristl G. Claeys, Dietmar Rudolf Thal, Jorge A. Bevilacqua, Sushan Luo, Wenhua Zhu, Jie Lin, George K. Papadimas, Constantinos Papadopoulos, Eleni Zamba‐Papanicolaou, Sophia Xirou, Endre Pál, Carmelo Rodolico, Anna Kostera‐Pruszczyk, Biruta Kierdaszuk, Anna Kamińska, Nuria Muelas, Juan J. Vílchez, Cristina Domínguez‐González, Aurelio Hernández‐Laín, Jorge Alonso‐Pérez, Velina Nedkova-Hristova, Carlos Aledo, Anders Oldfors, Umesh A. Badrising, Hani Kushlaf, Thomas E. Lloyd, Chiseko Ikenaga, Lindsay N. Alfano, Colin Quinn, David Walk, Matthias Vorgerd, Conrad C. Weihl, Montse Olivé, Jordi Díaz‐Manera, Adolfo López de Munaín, Alba Ramos‐Fransí, Aleksandra Nadaj-Pakleza, Alicia Martínez‐Piñeiro, Ana Töpf, Anna Mayhew, Anna Rydelius, Anthony Béhin, António Toscano, Béatrice Lannes, Beatriz Gómez, Benedikt Schoser, Bjarne Udd, Boél De Paepe, B. Eymard, Carla Marco Cazcarra, Carmen Paradas, Carola Hedberg‐Oldfors, Channa Hewamadduma, Cheryl Longman, Christopher Nance, Corinne Métay, David Hilton‐Jones, Edmar Zanotelli, Elizabeth A. Harrington, Ellen Eline, Eloy Rivas, Francesc Miralles, George Manousakis, Gianni Sorarù, Giulia Bisogni, Giuseppe Lucente, Guillaume Bassez

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Landing page: https://doi.org/10.1212/nxg.0000000000200265

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Concepts: Muscle biopsy, Biopsy, Medicine, Pathology, Myopathy, Pathognomonic, Inflammatory myopathy, Disease

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Cited by: 1

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