Document Detail


Mass spectrometry analysis reveals non-mutated apolipoprotein A1 lumbosacral radiculoplexus amyloidoma.
MedLine Citation:
PMID:  23055319     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
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.
Authors:
Adam J Loavenbruck; Vinay Chaudhry; Steven R Zeldenrust; Robert J Spinner; Jason D Theis; Christopher J Klein
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Publication Detail:
Type:  Case Reports; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Muscle & nerve     Volume:  46     ISSN:  1097-4598     ISO Abbreviation:  Muscle Nerve     Publication Date:  2012 Nov 
Date Detail:
Created Date:  2012-10-11     Completed Date:  2012-12-18     Revised Date:  2013-11-06    
Medline Journal Info:
Nlm Unique ID:  7803146     Medline TA:  Muscle Nerve     Country:  United States    
Other Details:
Languages:  eng     Pagination:  817-22     Citation Subset:  IM    
Copyright Information:
Copyright © 2012 Wiley Periodicals, Inc.
Affiliation:
Department of Neurology, Mayo Clinic, 200 First Street SW, Rochester, Minnesota 55905, USA.
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MeSH Terms
Descriptor/Qualifier:
Amino Acid Sequence
Amyloidosis / diagnosis*,  genetics,  pathology
Apolipoprotein A-I / genetics*
Humans
Lumbosacral Plexus / pathology*
Male
Mass Spectrometry*
Middle Aged
Molecular Sequence Data
Peripheral Nervous System Diseases / diagnosis,  genetics,  pathology
Grant Support
ID/Acronym/Agency:
K08 NS065007/NS/NINDS NIH HHS; K08 NS065007-01A1/NS/NINDS NIH HHS; NS36797/NS/NINDS NIH HHS
Chemical
Reg. No./Substance:
0/Apolipoprotein A-I
Comments/Corrections

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