| Mass spectrometry analysis reveals non-mutated apolipoprotein A1 lumbosacral radiculoplexus amyloidoma. | |
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MedLine Citation:
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PMID: 23055319 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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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. |
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Authors:
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Adam J Loavenbruck; Vinay Chaudhry; Steven R Zeldenrust; Robert J Spinner; Jason D Theis; Christopher J Klein |
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Publication Detail:
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Type: Case Reports; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't |
Journal Detail:
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Title: Muscle & nerve Volume: 46 ISSN: 1097-4598 ISO Abbreviation: Muscle Nerve Publication Date: 2012 Nov |
Date Detail:
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Created Date: 2012-10-11 Completed Date: 2012-12-18 Revised Date: 2013-04-16 |
Medline Journal Info:
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Nlm Unique ID: 7803146 Medline TA: Muscle Nerve Country: United States |
Other Details:
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Languages: eng Pagination: 817-22 Citation Subset: IM |
Copyright Information:
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Copyright © 2012 Wiley Periodicals, Inc. |
Affiliation:
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Department of Neurology, Mayo Clinic, 200 First Street SW, Rochester, Minnesota 55905, USA. |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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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:
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K08 NS065007/NS/NINDS NIH HHS; K08 NS065007-01A1/NS/NINDS NIH HHS; NS36797/NS/NINDS NIH HHS |
| Chemical | |
Reg. No./Substance:
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0/Apolipoprotein A-I |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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