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Genetic and constitutional factors are major contributors to substantia nigra hyperechogenicity
Hyperechogenicity of substantia nigra (SNh) is a frequent finding in amyotrophic lateral sclerosis (ALS), Parkinson’s disease (PD) and other movement disorders (MD) patients, but its meaning is unclear. To ascertain the contribution of different factors to SNh area, we measured it in 108 ALS, 102 PD...
Autores principales: | , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
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Nature Publishing Group UK
2017
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5541052/ https://www.ncbi.nlm.nih.gov/pubmed/28769074 http://dx.doi.org/10.1038/s41598-017-07835-z |
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author | Vázquez-Costa, Juan F. Tembl, José I. Fornés-Ferrer, Victoria Cardona, Fernando Morales-Caba, Lluis Fortea, Gerardo Pérez-Tur, Jordi Sevilla, Teresa |
author_facet | Vázquez-Costa, Juan F. Tembl, José I. Fornés-Ferrer, Victoria Cardona, Fernando Morales-Caba, Lluis Fortea, Gerardo Pérez-Tur, Jordi Sevilla, Teresa |
author_sort | Vázquez-Costa, Juan F. |
collection | PubMed |
description | Hyperechogenicity of substantia nigra (SNh) is a frequent finding in amyotrophic lateral sclerosis (ALS), Parkinson’s disease (PD) and other movement disorders (MD) patients, but its meaning is unclear. To ascertain the contribution of different factors to SNh area, we measured it in 108 ALS, 102 PD, 91 other MD patients and 91 healthy controls. Demographical data were collected in all patients and controls. In ALS patients, we also recorded clinical variables, performed genetic analysis and measured baseline levels of ferritin. After family history and genetic testing, ALS patients were classified as familial (15) or sporadic (93). ALS, PD and other MD patients had a larger SNh area than controls. Left SNh and male gender, but not age, associated with larger SNh area in both patients and controls. Familial ALS patients showed larger SNh area than sporadic ones and familial ALS was the only clinical variable in the multivariate analysis to be associated with larger SNh area in ALS patients. Our results suggest that SNh associates with genetic and constitutional factors (male gender, handedness), some of which predispose to certain neurodegenerative diseases. This evidence supports the idea of SNh as an inborn marker of unspecific neuronal vulnerability. |
format | Online Article Text |
id | pubmed-5541052 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2017 |
publisher | Nature Publishing Group UK |
record_format | MEDLINE/PubMed |
spelling | pubmed-55410522017-08-07 Genetic and constitutional factors are major contributors to substantia nigra hyperechogenicity Vázquez-Costa, Juan F. Tembl, José I. Fornés-Ferrer, Victoria Cardona, Fernando Morales-Caba, Lluis Fortea, Gerardo Pérez-Tur, Jordi Sevilla, Teresa Sci Rep Article Hyperechogenicity of substantia nigra (SNh) is a frequent finding in amyotrophic lateral sclerosis (ALS), Parkinson’s disease (PD) and other movement disorders (MD) patients, but its meaning is unclear. To ascertain the contribution of different factors to SNh area, we measured it in 108 ALS, 102 PD, 91 other MD patients and 91 healthy controls. Demographical data were collected in all patients and controls. In ALS patients, we also recorded clinical variables, performed genetic analysis and measured baseline levels of ferritin. After family history and genetic testing, ALS patients were classified as familial (15) or sporadic (93). ALS, PD and other MD patients had a larger SNh area than controls. Left SNh and male gender, but not age, associated with larger SNh area in both patients and controls. Familial ALS patients showed larger SNh area than sporadic ones and familial ALS was the only clinical variable in the multivariate analysis to be associated with larger SNh area in ALS patients. Our results suggest that SNh associates with genetic and constitutional factors (male gender, handedness), some of which predispose to certain neurodegenerative diseases. This evidence supports the idea of SNh as an inborn marker of unspecific neuronal vulnerability. Nature Publishing Group UK 2017-08-02 /pmc/articles/PMC5541052/ /pubmed/28769074 http://dx.doi.org/10.1038/s41598-017-07835-z Text en © The Author(s) 2017 Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/. |
spellingShingle | Article Vázquez-Costa, Juan F. Tembl, José I. Fornés-Ferrer, Victoria Cardona, Fernando Morales-Caba, Lluis Fortea, Gerardo Pérez-Tur, Jordi Sevilla, Teresa Genetic and constitutional factors are major contributors to substantia nigra hyperechogenicity |
title | Genetic and constitutional factors are major contributors to substantia nigra hyperechogenicity |
title_full | Genetic and constitutional factors are major contributors to substantia nigra hyperechogenicity |
title_fullStr | Genetic and constitutional factors are major contributors to substantia nigra hyperechogenicity |
title_full_unstemmed | Genetic and constitutional factors are major contributors to substantia nigra hyperechogenicity |
title_short | Genetic and constitutional factors are major contributors to substantia nigra hyperechogenicity |
title_sort | genetic and constitutional factors are major contributors to substantia nigra hyperechogenicity |
topic | Article |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5541052/ https://www.ncbi.nlm.nih.gov/pubmed/28769074 http://dx.doi.org/10.1038/s41598-017-07835-z |
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