Mass spectrometry analysis reveals non-mutated apolipoprotein a1 lumbosacral radiculoplexus amyloidoma

Adam J. Loavenbruck, Vinay Chaudhry, Steven R. Zeldenrust, Robert J. Spinner, Jason D. Theis, Christopher J. Klein

Research output: Contribution to journalArticle

7 Scopus citations

Abstract

Introduction: In rare instances, amyloidosis presents as a focal, macroscopic lesion involving peripheral neural tissues (amyloidoma). In all known reported cases, peripheral nerve amyloidomas have had immunoglobulin light-chain fibril composition and occurred in the context of paraproteinemia. Methods: A 46-year-old man presented with progressive insidious-onset right lumbosacral radiculoplexus neuropathy without paraproteinemia. MRI-targeted fascicular nerve biopsy was performed on an enlarged sciatic nerve after earlier distal fibular nerve biopsy was nondiagnostic. Laser dissected mass spectroscopy of the discovered amyloid protein was performed after immunohistochemistry failed to identify the specific amyloid protein. Complete gene sequencing of apolipoprotein A1 (ApoA1) was performed. Results: Only wild-type ApoA1 amyloid was found in the congophilic component in the nerve. Conclusions: This case highlights the utility of MRI-guided fascicular nerve biopsy combined with laser-dissected mass spectrometric analysis. Importantly, the case expands the known causes of amyloidomas to include wild-type ApoA1.

Original languageEnglish (US)
Pages (from-to)817-822
Number of pages6
JournalMuscle and Nerve
Volume46
Issue number5
DOIs
StatePublished - Nov 1 2012

Keywords

  • Amyloidogenesis
  • Amyloidoma
  • Apolipoprotein A1
  • Mass spectrometry
  • Peripheral neuropathy

ASJC Scopus subject areas

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

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