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Distinct Muscle Biopsy Findings in Genetically Defined Adult-Onset Motor Neuron Disorders
The objective of this study was to characterize and compare muscle histopathological findings in 3 different genetic motor neuron disorders. We retrospectively re-assessed muscle biopsy findings in 23 patients with autosomal dominant lower motor neuron disease caused by p.G66V mutation in CHCHD10 (S...
Autores principales: | , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Public Library of Science
2016
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4801364/ https://www.ncbi.nlm.nih.gov/pubmed/26999347 http://dx.doi.org/10.1371/journal.pone.0151376 |
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author | Jokela, Manu Huovinen, Sanna Raheem, Olayinka Lindfors, Mikaela Palmio, Johanna Penttilä, Sini Udd, Bjarne |
author_facet | Jokela, Manu Huovinen, Sanna Raheem, Olayinka Lindfors, Mikaela Palmio, Johanna Penttilä, Sini Udd, Bjarne |
author_sort | Jokela, Manu |
collection | PubMed |
description | The objective of this study was to characterize and compare muscle histopathological findings in 3 different genetic motor neuron disorders. We retrospectively re-assessed muscle biopsy findings in 23 patients with autosomal dominant lower motor neuron disease caused by p.G66V mutation in CHCHD10 (SMAJ), 10 X-linked spinal and bulbar muscular atrophy (SBMA) and 11 autosomal dominant c9orf72-mutated amyotrophic lateral sclerosis (c9ALS) patients. Distinct large fiber type grouping consisting of non-atrophic type IIA muscle fibers were 100% specific for the late-onset spinal muscular atrophies (SMAJ and SBMA) and were never observed in c9ALS. Common, but less specific findings included small groups of highly atrophic rounded type IIA fibers in SMAJ/SBMA, whereas in c9ALS, small group atrophies consisting of small-caliber angular fibers involving both fiber types were more characteristic. We also show that in the 2 slowly progressive motor neuron disorders (SMAJ and SBMA) the initial neurogenic features are often confused with considerable secondary “myopathic” changes at later disease stages, such as rimmed vacuoles, myofibrillar aggregates and numerous fibers reactive for fetal myosin heavy chain (dMyHC) antibodies. Based on our findings, muscle biopsy may be valuable in the diagnostic work-up of suspected motor neuron disorders in order to avoid a false ALS diagnosis in patients without clear findings of upper motor neuron lesions. |
format | Online Article Text |
id | pubmed-4801364 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2016 |
publisher | Public Library of Science |
record_format | MEDLINE/PubMed |
spelling | pubmed-48013642016-03-23 Distinct Muscle Biopsy Findings in Genetically Defined Adult-Onset Motor Neuron Disorders Jokela, Manu Huovinen, Sanna Raheem, Olayinka Lindfors, Mikaela Palmio, Johanna Penttilä, Sini Udd, Bjarne PLoS One Research Article The objective of this study was to characterize and compare muscle histopathological findings in 3 different genetic motor neuron disorders. We retrospectively re-assessed muscle biopsy findings in 23 patients with autosomal dominant lower motor neuron disease caused by p.G66V mutation in CHCHD10 (SMAJ), 10 X-linked spinal and bulbar muscular atrophy (SBMA) and 11 autosomal dominant c9orf72-mutated amyotrophic lateral sclerosis (c9ALS) patients. Distinct large fiber type grouping consisting of non-atrophic type IIA muscle fibers were 100% specific for the late-onset spinal muscular atrophies (SMAJ and SBMA) and were never observed in c9ALS. Common, but less specific findings included small groups of highly atrophic rounded type IIA fibers in SMAJ/SBMA, whereas in c9ALS, small group atrophies consisting of small-caliber angular fibers involving both fiber types were more characteristic. We also show that in the 2 slowly progressive motor neuron disorders (SMAJ and SBMA) the initial neurogenic features are often confused with considerable secondary “myopathic” changes at later disease stages, such as rimmed vacuoles, myofibrillar aggregates and numerous fibers reactive for fetal myosin heavy chain (dMyHC) antibodies. Based on our findings, muscle biopsy may be valuable in the diagnostic work-up of suspected motor neuron disorders in order to avoid a false ALS diagnosis in patients without clear findings of upper motor neuron lesions. Public Library of Science 2016-03-21 /pmc/articles/PMC4801364/ /pubmed/26999347 http://dx.doi.org/10.1371/journal.pone.0151376 Text en © 2016 Jokela et al http://creativecommons.org/licenses/by/4.0/ This is an open access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0/) , which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited. |
spellingShingle | Research Article Jokela, Manu Huovinen, Sanna Raheem, Olayinka Lindfors, Mikaela Palmio, Johanna Penttilä, Sini Udd, Bjarne Distinct Muscle Biopsy Findings in Genetically Defined Adult-Onset Motor Neuron Disorders |
title | Distinct Muscle Biopsy Findings in Genetically Defined Adult-Onset Motor Neuron Disorders |
title_full | Distinct Muscle Biopsy Findings in Genetically Defined Adult-Onset Motor Neuron Disorders |
title_fullStr | Distinct Muscle Biopsy Findings in Genetically Defined Adult-Onset Motor Neuron Disorders |
title_full_unstemmed | Distinct Muscle Biopsy Findings in Genetically Defined Adult-Onset Motor Neuron Disorders |
title_short | Distinct Muscle Biopsy Findings in Genetically Defined Adult-Onset Motor Neuron Disorders |
title_sort | distinct muscle biopsy findings in genetically defined adult-onset motor neuron disorders |
topic | Research Article |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4801364/ https://www.ncbi.nlm.nih.gov/pubmed/26999347 http://dx.doi.org/10.1371/journal.pone.0151376 |
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