Muscle Biopsy Findings in Valosin-Containing Protein Multisystem Proteinopathy
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.
Authors
- Béatrice Lannes (ORCID: https://orcid.org/0000-0003-2122-2094)
- Edoardo Malfatti (ORCID: https://orcid.org/0000-0001-7871-8600)
- Mauro Monforte (ORCID: https://orcid.org/0000-0002-4327-6969)
- Giuseppe Lucente (ORCID: https://orcid.org/0000-0003-1120-9136)
- Carmen Paradas (ORCID: https://orcid.org/0000-0002-6917-2236)
- Sruthi Nair (ORCID: https://orcid.org/0000-0001-5463-5229)
- Elena Pegoraro (ORCID: https://orcid.org/0000-0002-7740-4156)
- Alicia Martínez‐Piñeiro (ORCID: https://orcid.org/0000-0003-1988-606X)
- Noemí Vidal (ORCID: https://orcid.org/0000-0002-2852-6667)
- Michela Guglieri (ORCID: https://orcid.org/0000-0002-8455-0637)
- Velina Nedkova-Hristova (ORCID: https://orcid.org/0000-0001-8797-3371)
- Montse Olivé (ORCID: https://orcid.org/0000-0001-5727-0165)
- Marianne de Visser (ORCID: https://orcid.org/0000-0002-5591-7452)
- Jorge A. Bevilacqua (ORCID: https://orcid.org/0000-0002-0525-9308)
- Matthias Vorgerd (ORCID: https://orcid.org/0000-0002-1782-4642)
- Sigrid Klotz (ORCID: https://orcid.org/0000-0003-3096-2852)
- Zarife Sahenk (ORCID: https://orcid.org/0000-0003-2974-3943)
- Elizabeth A. Harrington (ORCID: https://orcid.org/0000-0003-2578-8984)
- Constantinos Papadopoulos
- Sarah Souvannanorath (ORCID: https://orcid.org/0000-0001-7986-0983)
- Tanya Stojkovic (ORCID: https://orcid.org/0000-0002-4054-2838)
- Teresinha Evangelista (ORCID: https://orcid.org/0000-0002-1329-9131)
- Pilar Camaño (ORCID: https://orcid.org/0000-0002-4116-5579)
- Eloy Rivas (ORCID: https://orcid.org/0000-0001-6014-8048)
- Endre Pál (ORCID: https://orcid.org/0000-0001-6525-0754)
- C. Marini-Bettolo
- Tiffany Grider (ORCID: https://orcid.org/0000-0002-2236-9218)
- Mario Sabatelli (ORCID: https://orcid.org/0000-0001-6635-4985)
- Volker Straub (ORCID: https://orcid.org/0000-0001-9046-3540)
- Dietmar Rudolf Thal (ORCID: https://orcid.org/0000-0002-1036-1075)
- Yoshihiko Saito (ORCID: https://orcid.org/0000-0003-1643-4797)
- Guillaume Bassez (ORCID: https://orcid.org/0000-0002-2044-1052)
- Channa Hewamadduma
- Norma B. Romero (ORCID: https://orcid.org/0000-0001-7714-0069)
- Willem De Ridder (ORCID: https://orcid.org/0000-0003-2754-5302)
- Anna Rydelius (ORCID: https://orcid.org/0000-0002-6742-1825)
- Pascal Laforêt (ORCID: https://orcid.org/0000-0002-4489-4718)
- Paulo Victor Sgobbi de Souza (ORCID: https://orcid.org/0000-0002-7416-7108)
- Sara Bortolani (ORCID: https://orcid.org/0000-0002-6472-0563)
- Matthew Harms (ORCID: https://orcid.org/0000-0002-3395-1633)
- George K. Papadimas (ORCID: https://orcid.org/0000-0003-0163-4091)
- Vidosava Rakočević-Stojanović (ORCID: https://orcid.org/0000-0002-0628-293X)
- Kristl G. Claeys (ORCID: https://orcid.org/0000-0001-9937-443X)
- Pietro Riguzzi (ORCID: https://orcid.org/0009-0006-0241-2174)
- Conrad C. Weihl (ORCID: https://orcid.org/0000-0002-3816-6124)
- Stuart H. Ralston (ORCID: https://orcid.org/0000-0002-2804-7586)
- Thomas E. Lloyd (ORCID: https://orcid.org/0000-0003-4756-3700)
- Nuria Muelas (ORCID: https://orcid.org/0000-0002-2349-7481)
- Cheryl Longman
- Wenhua Zhu (ORCID: https://orcid.org/0000-0001-8011-0274)
- Rubén Jara Rubio (ORCID: https://orcid.org/0000-0001-5035-9212)
- Marianela Schiava (ORCID: https://orcid.org/0000-0002-2709-265X)
- Jie Lin (ORCID: https://orcid.org/0000-0001-6351-3389)
- Eleonora Torchia (ORCID: https://orcid.org/0000-0003-1965-6483)
- Manouela V. Valtcheva
- Chiseko Ikenaga (ORCID: https://orcid.org/0000-0003-2264-1696)
- Lindsay N. Alfano (ORCID: https://orcid.org/0000-0002-2263-7569)
- Alba Ramos‐Fransí (ORCID: https://orcid.org/0000-0002-4114-4575)
- Boél De Paepe (ORCID: https://orcid.org/0000-0001-9403-4401)
- Tuomo Polvikoski
- M. James (ORCID: https://orcid.org/0000-0001-8078-7744)
- Jorge Alonso‐Pérez (ORCID: https://orcid.org/0000-0001-8866-5186)
- Natalia García-Angarita
- Carola Hedberg‐Oldfors (ORCID: https://orcid.org/0000-0002-7141-4185)
- Ellen Gelpí (ORCID: https://orcid.org/0000-0003-2948-4187)
- Beatriz Gómez (ORCID: https://orcid.org/0000-0001-5796-5872)
- Anthony Béhin (ORCID: https://orcid.org/0000-0001-7179-5152)
- Cristina Domínguez‐González (ORCID: https://orcid.org/0000-0001-5151-988X)
- Sarah Léonard-Louis (ORCID: https://orcid.org/0000-0002-2365-7932)
- Biruta Kierdaszuk (ORCID: https://orcid.org/0000-0002-8072-2497)
- Monika Hofer (ORCID: https://orcid.org/0000-0002-8656-2324)
- Virginia Kimonis (ORCID: https://orcid.org/0000-0003-1567-4449)
- Corinne Métay (ORCID: https://orcid.org/0000-0001-5161-2662)
- Stefen Brady (ORCID: https://orcid.org/0000-0001-6812-0920)
- David Walk (ORCID: https://orcid.org/0000-0001-7941-1993)
- Eleni Zamba‐Papanicolaou (ORCID: https://orcid.org/0000-0001-7727-9714)
- Umesh A. Badrising (ORCID: https://orcid.org/0000-0003-0146-2664)
- Hakan Çetin (ORCID: https://orcid.org/0000-0001-9009-7261)
- B. Eymard (ORCID: https://orcid.org/0000-0002-9142-1382)
- Luca Bello (ORCID: https://orcid.org/0000-0002-3075-6525)
- Nicholas Earle (ORCID: https://orcid.org/0000-0002-1436-6260)
- Sabine Krause (ORCID: https://orcid.org/0000-0002-3141-886X)
- Simone Thiele
- Michio Inoue (ORCID: https://orcid.org/0000-0003-2757-3266)
- Hani Kushlaf (ORCID: https://orcid.org/0000-0002-3786-1133)
- Francesc Miralles (ORCID: https://orcid.org/0000-0002-5282-2351)
- Anna Mayhew (ORCID: https://orcid.org/0000-0001-7085-9011)
- Mónica Povedano (ORCID: https://orcid.org/0000-0001-5146-6183)
- Carmelo Rodolico (ORCID: https://orcid.org/0000-0003-2543-6356)
- Giorgio Tasca (ORCID: https://orcid.org/0000-0003-0849-9144)
- Kate Taylor
- Robert Muni‐Lofra (ORCID: https://orcid.org/0000-0002-8901-9140)
- George Manousakis
- Ana Töpf (ORCID: https://orcid.org/0000-0002-9227-2526)
- Timothy L. Williams (ORCID: https://orcid.org/0000-0002-1221-7843)
- Ichizo Nishino (ORCID: https://orcid.org/0000-0001-9452-112X)
- Giulia Bisogni (ORCID: https://orcid.org/0000-0001-7314-3393)
- Rudi Kley
- Carla Marco Cazcarra
- Jordi Díaz‐Manera (ORCID: https://orcid.org/0000-0003-2941-7988)
- Sushan Luo (ORCID: https://orcid.org/0000-0002-9033-7568)
- Pascale Richard (ORCID: https://orcid.org/0000-0002-2390-3005)
- Sophia Xirou (ORCID: https://orcid.org/0000-0001-8222-091X)
- Anders Oldfors (ORCID: https://orcid.org/0000-0002-5758-7397)
- Jonathan Baets (ORCID: https://orcid.org/0000-0001-8295-5385)
- Kinga Hadzsiev (ORCID: https://orcid.org/0000-0003-2303-1670)
- Colin Quinn (ORCID: https://orcid.org/0000-0003-0618-5854)
- Juan J. Vílchez (ORCID: https://orcid.org/0000-0002-0532-2872)
- Anna Kostera‐Pruszczyk (ORCID: https://orcid.org/0000-0002-7309-1914)
- Jan De Bleecker (ORCID: https://orcid.org/0000-0002-1328-1812)
- Roberto Fernández‐Torrón (ORCID: https://orcid.org/0000-0002-2202-8165)
- Marta Caballero‐Ávila (ORCID: https://orcid.org/0000-0001-9850-8504)
- Bjarne Udd (ORCID: https://orcid.org/0000-0002-1101-9730)
- Marion Masingue (ORCID: https://orcid.org/0000-0001-5715-7410)
- Aurelio Hernández‐Laín (ORCID: https://orcid.org/0000-0003-1642-4505)
- Judith A. Hudson (ORCID: https://orcid.org/0000-0002-2327-8166)
- António Toscano (ORCID: https://orcid.org/0000-0002-3995-4827)
- Matthew Henderson (ORCID: https://orcid.org/0000-0001-5605-1913)
- Alicia Alonso‐Jiménez (ORCID: https://orcid.org/0000-0002-2200-9255)
- Yolande Parkhurst
- Edmar Zanotelli
- Anna Kamińska (ORCID: https://orcid.org/0000-0002-0692-8016)
- Rodrigo Álvarez (ORCID: https://orcid.org/0009-0007-5020-2232)
- Robert Carlier (ORCID: https://orcid.org/0000-0002-9417-0726)
- Gianni Sorarú (ORCID: https://orcid.org/0000-0001-9691-6328)
- Mario Campero
- Rocío N. Villar‐Quiles (ORCID: https://orcid.org/0000-0001-6706-3506)
- Peter De Jonghe
- Benedikt Schoser
- Young-Eun Park (ORCID: https://orcid.org/0000-0003-0887-1604)
- David Hilton‐Jones
- William Kevin Kelly
- Stojan Peric
- Maria Elena Farrugia (ORCID: https://orcid.org/0000-0002-3776-1220)
- Adolfo López de Munaín
- Christopher Nance (ORCID: https://orcid.org/0000-0003-3803-2940)
- Aleksandra Nadaj-Pakleza
- Phillipa J. Lamont (ORCID: https://orcid.org/0000-0002-4209-5015)
- Yukako Nishimori (ORCID: https://orcid.org/0009-0003-4418-4462)
- Carlos Aledo (ORCID: https://orcid.org/0000-0001-7110-5713)
- Ellen Eline
Institutions
- University of Messina (IT)
- University of Minnesota (US)
- Nationwide Children's Hospital (US)
- Allen Institute for Brain Science (US)
- University of Padua (IT)
- Johns Hopkins University (US)
- University of Antwerp (BE)
- Inserm (FR)
- Université Paris-Est Créteil (FR)
- Washington University in St. Louis (US)
- Medical University of Warsaw (PL)
- Johns Hopkins Medicine (US)
- Leiden University Medical Center (NL)
- Paris-Est Sup (FR)
- Hospital Universitario de Canarias (ES)
- Ghent University Hospital (BE)
- Newcastle upon Tyne Hospitals NHS Foundation Trust (GB)
- Hospital de Sant Pau (ES)
- Bellvitge University Hospital (ES)
- Agostino Gemelli University Polyclinic (IT)
- Hospital Universitari i Politècnic La Fe (ES)
- Sorbonne Université (FR)
- Hospital Universitario Nuestra Señora de Candelaria (ES)
- Assistance Publique – Hôpitaux de Paris (FR)
- Hospital Universitario 12 De Octubre (ES)
- Antwerp University Hospital (BE)
- National Center of Neurology and Psychiatry (JP)
- Institut de Myologie (FR)
- Centro de Investigación Biomédica en Red (ES)
- Institute for Biomedicine (IT)
- Province of Antwerp (BE)
- Leitat Technological Center (ES)
- Hospital Clínico de la Universidad de Chile (CL)
- MNGI Digestive Health (US)
- Muscular Dystrophy UK (GB)
- NIHR Newcastle Biomedical Research Centre (GB)
- Hospital Universitario del Vinalopó (ES)
- BG University Hospital Bergmannsheil Bochum (DE)
- Eginition Hospital (GR)
- ERN GUARD-Heart (NL)
- Fundación Canaria de Investigación Sanitaria (ES)
- VIB-KU Leuven Center for Brain & Disease Research (BE)
- Institut Mondor de Recherche Biomédicale (FR)
- Huashan Hospital (CN)
- University of Cincinnati (US)
- Medical University of Vienna (AT)
- University of Pennsylvania (US)
- University of Pecs (HU)
- University of Gothenburg (SE)
- University of Cincinnati Medical Center (US)
- KU Leuven (BE)
Publication Details
- Journal
- Neurology Genetics
- Published
- 2025-07-16
- DOI
- https://doi.org/10.1212/nxg.0000000000200265
- Citations
- 1
- Primary Topic
- Neurological diseases and metabolism
- Type
- article
- Field-Weighted Citation Impact
- 0.84
Funders
- National Institute for Health and Care Research
- Newcastle University
- Assistance publique-Hôpitaux de Paris