A novel VCP mutation underlies scapuloperoneal muscular dystrophy and dropped head syndrome featuring lobulated fibers

Research output: Contribution to journalArticle

12 Scopus citations

Abstract

Introduction: Valosin-containing protein (VCP) is a ubiquitously expressed, multifunctional AAA-ATPase protein. Its dominant mutations cause hereditary inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia (IBMPFD) or amyotrophic lateral sclerosis. The pattern of muscle weakness in IBMPFD patients is variable and includes limb-girdle, scapuloperoneal, distal, or axial distributions. Case Report: We report a 63-year-old man with progressive scapuloperoneal weakness, head drop, and hyperCKemia since age 40 years. Electromyography showed myopathic changes and rare myotonic discharges. Muscle biopsy revealed numerous lobulated fibers, few fibers with glycogen accumulation, and rare fibers with polyglucosan bodies. Rimmed vacuoles and congophilic inclusions, often seen in IBMPFD, were absent. VCP sequencing identified a novel heterozygous c. 1160G>A mutation resulting in p.Asn387Ser substitution. Conclusions: Our patient broadens the pathological spectrum of VCP-myopathy and emphasizes the importance of VCP analysis in patients with scapuloperoneal muscular dystrophy despite the absence of Paget disease, dementia, rimmed vacuoles, or intracellular amyloid deposition.

Original languageEnglish (US)
Pages (from-to)295-299
Number of pages5
JournalMuscle and Nerve
Volume50
Issue number2
DOIs
StatePublished - Aug 2014

Keywords

  • Dropped head syndrome
  • Glycogen
  • Lobulated fiber
  • Polyglucosan body
  • Scapuloperoneal muscular dystrophy
  • VCP
  • Valosin-containing protein

ASJC Scopus subject areas

  • Physiology
  • Clinical Neurology
  • Cellular and Molecular Neuroscience
  • Physiology (medical)

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