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Segmental involvement of the corpus callosum in C9orf72-associated ALS: a tract of interest-based DTI study
BACKGROUND: C9orf72 hexanucleotide repeat expansions are associated with widespread cerebral alterations, including white matter alterations. However, there is lack of information on changes in commissure fibres. Diffusion tensor imaging (DTI) can identify amyotrophic lateral sclerosis (ALS)-associa...
Autores principales: | , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
SAGE Publications
2021
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7989124/ https://www.ncbi.nlm.nih.gov/pubmed/33815737 http://dx.doi.org/10.1177/20406223211002969 |
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author | Müller, Hans-Peter Lulé, Dorothée Roselli, Francesco Behler, Anna Ludolph, Albert C. Kassubek, Jan |
author_facet | Müller, Hans-Peter Lulé, Dorothée Roselli, Francesco Behler, Anna Ludolph, Albert C. Kassubek, Jan |
author_sort | Müller, Hans-Peter |
collection | PubMed |
description | BACKGROUND: C9orf72 hexanucleotide repeat expansions are associated with widespread cerebral alterations, including white matter alterations. However, there is lack of information on changes in commissure fibres. Diffusion tensor imaging (DTI) can identify amyotrophic lateral sclerosis (ALS)-associated patterns of regional brain alterations at the group level. The objective of this study was to investigate the structural connectivity of the corpus callosum (CC) in ALS patients with C9orf72 expansions. METHODS: DTI-based white matter mapping was performed by a hypothesis-guided tractwise analysis of fractional anisotropy (FA) maps for 25 ALS patients with C9orf72 expansion versus 25 matched healthy controls. Furthermore, a comparison with a patient control group of 25 sporadic ALS patients was performed. DTI-based tracts that originate from callosal sub-areas I to V were identified and correlated with clinical data. RESULTS: The analysis of white matter integrity demonstrated regional FA reductions for tracts of the callosal areas II and III for ALS patients with C9orf72 expansions while FA reductions in sporadic ALS patients were observed only for tracts of the callosal area III; these reductions were correlated with clinical parameters. CONCLUSION: The tract-of-interest-based analysis showed a microstructural callosal involvement pattern in C9orf72-associated ALS that included the motor segment III together with frontal callosal connections, as an imaging signature of the C9orf72-associated overlap of motor neuron disease and frontotemporal pathology. |
format | Online Article Text |
id | pubmed-7989124 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2021 |
publisher | SAGE Publications |
record_format | MEDLINE/PubMed |
spelling | pubmed-79891242021-04-02 Segmental involvement of the corpus callosum in C9orf72-associated ALS: a tract of interest-based DTI study Müller, Hans-Peter Lulé, Dorothée Roselli, Francesco Behler, Anna Ludolph, Albert C. Kassubek, Jan Ther Adv Chronic Dis Original Research BACKGROUND: C9orf72 hexanucleotide repeat expansions are associated with widespread cerebral alterations, including white matter alterations. However, there is lack of information on changes in commissure fibres. Diffusion tensor imaging (DTI) can identify amyotrophic lateral sclerosis (ALS)-associated patterns of regional brain alterations at the group level. The objective of this study was to investigate the structural connectivity of the corpus callosum (CC) in ALS patients with C9orf72 expansions. METHODS: DTI-based white matter mapping was performed by a hypothesis-guided tractwise analysis of fractional anisotropy (FA) maps for 25 ALS patients with C9orf72 expansion versus 25 matched healthy controls. Furthermore, a comparison with a patient control group of 25 sporadic ALS patients was performed. DTI-based tracts that originate from callosal sub-areas I to V were identified and correlated with clinical data. RESULTS: The analysis of white matter integrity demonstrated regional FA reductions for tracts of the callosal areas II and III for ALS patients with C9orf72 expansions while FA reductions in sporadic ALS patients were observed only for tracts of the callosal area III; these reductions were correlated with clinical parameters. CONCLUSION: The tract-of-interest-based analysis showed a microstructural callosal involvement pattern in C9orf72-associated ALS that included the motor segment III together with frontal callosal connections, as an imaging signature of the C9orf72-associated overlap of motor neuron disease and frontotemporal pathology. SAGE Publications 2021-03-21 /pmc/articles/PMC7989124/ /pubmed/33815737 http://dx.doi.org/10.1177/20406223211002969 Text en © The Author(s), 2021 https://creativecommons.org/licenses/by-nc/4.0/ This article is distributed under the terms of the Creative Commons Attribution-NonCommercial 4.0 License (https://creativecommons.org/licenses/by-nc/4.0/) which permits non-commercial use, reproduction and distribution of the work without further permission provided the original work is attributed as specified on the SAGE and Open Access pages (https://us.sagepub.com/en-us/nam/open-access-at-sage). |
spellingShingle | Original Research Müller, Hans-Peter Lulé, Dorothée Roselli, Francesco Behler, Anna Ludolph, Albert C. Kassubek, Jan Segmental involvement of the corpus callosum in C9orf72-associated ALS: a tract of interest-based DTI study |
title | Segmental involvement of the corpus callosum in C9orf72-associated ALS: a tract of interest-based DTI study |
title_full | Segmental involvement of the corpus callosum in C9orf72-associated ALS: a tract of interest-based DTI study |
title_fullStr | Segmental involvement of the corpus callosum in C9orf72-associated ALS: a tract of interest-based DTI study |
title_full_unstemmed | Segmental involvement of the corpus callosum in C9orf72-associated ALS: a tract of interest-based DTI study |
title_short | Segmental involvement of the corpus callosum in C9orf72-associated ALS: a tract of interest-based DTI study |
title_sort | segmental involvement of the corpus callosum in c9orf72-associated als: a tract of interest-based dti study |
topic | Original Research |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7989124/ https://www.ncbi.nlm.nih.gov/pubmed/33815737 http://dx.doi.org/10.1177/20406223211002969 |
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