Genetic and constitutional factors are major contributors to substantia nigra hyperechogenicity
Abstract 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 AL...
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| Format: | Article |
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Nature Portfolio
2017-08-01
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| Series: | Scientific Reports |
| Online Access: | https://doi.org/10.1038/s41598-017-07835-z |
| _version_ | 1818425322605903872 |
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| author | Juan F. Vázquez-Costa José I. Tembl Victoria Fornés-Ferrer Fernando Cardona Lluis Morales-Caba Gerardo Fortea Jordi Pérez-Tur Teresa Sevilla |
| author_facet | Juan F. Vázquez-Costa José I. Tembl Victoria Fornés-Ferrer Fernando Cardona Lluis Morales-Caba Gerardo Fortea Jordi Pérez-Tur Teresa Sevilla |
| author_sort | Juan F. Vázquez-Costa |
| collection | DOAJ |
| description | Abstract 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. |
| first_indexed | 2024-12-14T14:12:06Z |
| format | Article |
| id | doaj.art-3555605a4dcd4624b7689db86f00697a |
| institution | Directory Open Access Journal |
| issn | 2045-2322 |
| language | English |
| last_indexed | 2024-12-14T14:12:06Z |
| publishDate | 2017-08-01 |
| publisher | Nature Portfolio |
| record_format | Article |
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| spelling | doaj.art-3555605a4dcd4624b7689db86f00697a2022-12-21T22:58:16ZengNature PortfolioScientific Reports2045-23222017-08-01711910.1038/s41598-017-07835-zGenetic and constitutional factors are major contributors to substantia nigra hyperechogenicityJuan F. Vázquez-Costa0José I. Tembl1Victoria Fornés-Ferrer2Fernando Cardona3Lluis Morales-Caba4Gerardo Fortea5Jordi Pérez-Tur6Teresa Sevilla7Neuromuscular Research Unit, Instituto de Investigación Sanitaria la Fe (IIS La Fe)Neurosonology Laboratory, Department of Neurology, Hospital Universitario y Politécnico La FeBiostatistics Unit, Instituto de Investigación Sanitaria la Fe (IIS La Fe)Laboratory of Molecular Genetics, Institut de Biomedicina de València-CSICNeurosonology Laboratory, Department of Neurology, Hospital Universitario y Politécnico La FeNeurosonology Laboratory, Department of Neurology, Hospital Universitario y Politécnico La FeLaboratory of Molecular Genetics, Institut de Biomedicina de València-CSICNeuromuscular Research Unit, Instituto de Investigación Sanitaria la Fe (IIS La Fe)Abstract 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.https://doi.org/10.1038/s41598-017-07835-z |
| spellingShingle | Juan F. Vázquez-Costa José I. Tembl Victoria Fornés-Ferrer Fernando Cardona Lluis Morales-Caba Gerardo Fortea Jordi Pérez-Tur Teresa Sevilla Genetic and constitutional factors are major contributors to substantia nigra hyperechogenicity Scientific Reports |
| 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 |
| url | https://doi.org/10.1038/s41598-017-07835-z |
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