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...

Descripción completa

Guardado en:

Detalles Bibliográficos
Autores principales:	Juan F. Vázquez-Costa, José I. Tembl, Victoria Fornés-Ferrer, Fernando Cardona, Lluis Morales-Caba, Gerardo Fortea, Jordi Pérez-Tur, Teresa Sevilla
Formato:	article
Lenguaje:	EN
Publicado:	Nature Portfolio 2017
Materias:	Medicine R Science Q
Acceso en línea:	https://doaj.org/article/3555605a4dcd4624b7689db86f00697a
Etiquetas:	Agregar Etiqueta Sin Etiquetas, Sea el primero en etiquetar este registro!

id	oai:doaj.org-article:3555605a4dcd4624b7689db86f00697a
record_format	dspace
spelling	oai:doaj.org-article:3555605a4dcd4624b7689db86f00697a2021-12-02T12:32:42ZGenetic and constitutional factors are major contributors to substantia nigra hyperechogenicity10.1038/s41598-017-07835-z2045-2322https://doaj.org/article/3555605a4dcd4624b7689db86f00697a2017-08-01T00:00:00Zhttps://doi.org/10.1038/s41598-017-07835-zhttps://doaj.org/toc/2045-2322Abstract 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.Juan F. Vázquez-CostaJosé I. TemblVictoria Fornés-FerrerFernando CardonaLluis Morales-CabaGerardo ForteaJordi Pérez-TurTeresa SevillaNature PortfolioarticleMedicineRScienceQENScientific Reports, Vol 7, Iss 1, Pp 1-9 (2017)
institution	DOAJ
collection	DOAJ
language	EN
topic	Medicine R Science Q
spellingShingle	Medicine R Science Q 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
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.
format	article
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
title	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_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_sort	genetic and constitutional factors are major contributors to substantia nigra hyperechogenicity
publisher	Nature Portfolio
publishDate	2017
url	https://doaj.org/article/3555605a4dcd4624b7689db86f00697a
work_keys_str_mv	AT juanfvazquezcosta geneticandconstitutionalfactorsaremajorcontributorstosubstantianigrahyperechogenicity AT joseitembl geneticandconstitutionalfactorsaremajorcontributorstosubstantianigrahyperechogenicity AT victoriafornesferrer geneticandconstitutionalfactorsaremajorcontributorstosubstantianigrahyperechogenicity AT fernandocardona geneticandconstitutionalfactorsaremajorcontributorstosubstantianigrahyperechogenicity AT lluismoralescaba geneticandconstitutionalfactorsaremajorcontributorstosubstantianigrahyperechogenicity AT gerardofortea geneticandconstitutionalfactorsaremajorcontributorstosubstantianigrahyperechogenicity AT jordipereztur geneticandconstitutionalfactorsaremajorcontributorstosubstantianigrahyperechogenicity AT teresasevilla geneticandconstitutionalfactorsaremajorcontributorstosubstantianigrahyperechogenicity
_version_	1718393970240782336

Genetic and constitutional factors are major contributors to substantia nigra hyperechogenicity

Ejemplares similares