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Related Experiment Video

Updated: Sep 15, 2025

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Muscle Biopsy Findings in Valosin-Containing Protein Multisystem Proteinopathy.

Marianela Schiava1, Yolande Parkhurst2, Matthew Henderson2

  • 1The John Walton Muscular Dystrophy Research Centre, Newcastle University and Newcastle Hospitals NHS Foundation Trusts, Newcastle, United Kingdom.

Neurology. Genetics
|July 18, 2025
PubMed
Summary
This summary is machine-generated.

Valosin Containing Protein-associated multisystem proteinopathy (VCP-MSP) muscle biopsies show consistent myopathic patterns with protein aggregates, but diagnostic discrepancies highlight the need for integrated clinical and biopsy analysis for improved VCP-MSP detection.

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Area of Science:

  • Neurology
  • Pathology
  • Genetics

Background:

  • Valosin Containing Protein-associated multisystem proteinopathy (VCP-MSP) is a progressive, autosomal dominant disorder.
  • Pathogenic variants in the VCP gene cause VCP-MSP, leading to diverse clinical presentations.
  • Muscle biopsy findings are characteristic but not definitively diagnostic for VCP-MSP.

Purpose of the Study:

  • To analyze VCP-related myopathology comprehensively.
  • To correlate muscle biopsy findings with clinical phenotypes, genetic variants, and disease progression.
  • To investigate the diagnostic utility of muscle biopsies in VCP-MSP.

Main Methods:

  • Retrospective collection of 112 muscle biopsies from adult VCP-MSP patients.
  • Standardization of biopsy data using "Common Data Elements for Muscle Biopsy Reporting."
  • Analysis of biopsy findings based on biopsy site, disease duration, VCP variants, and clinical phenotypes.

Main Results:

  • Consistent histopathologic findings include atrophic fibers, rimmed vacuoles, fibrosis, and p62/VCP-positive aggregates.
  • No significant differences in biopsy findings across common VCP variants, except for degeneration niches in p.Arg93Cys.
  • Low concordance (49.4%) between clinical phenotype, biopsy, and neurophysiology indicates significant disease heterogeneity.

Conclusions:

  • VCP-MSP muscle biopsies exhibit consistent myopathic patterns with rimmed vacuoles and p62/VCP inclusions.
  • Diagnostic challenges arise from the absence of vacuoles in some cases.
  • Discrepancies necessitate considering VCP-MSP to enhance early detection and management.