Genetic and constitutional factors are major contributors to substantia nigra hyperechogenicity

Fecha de publicación: 02/08/2017

Autores de IIS La Fe

• Juan Francisco Vázquez Costa

  Autor

• José Ignacio Tembl Ferrairo

  Autor

• Victoria Fornés Ferrer

  Autor

• Fernando Cardona Serrate

  Autor

• Lluis Morales Caba

  Autor

• Gerardo Fortea Cabo

  Autor

• 

  Jordi Perez Tur

  Autor

• 

  Teresa Sevilla Mantecón

  Autor

Grupos

• Hemostasia, Trombosis, Arteriosclerosis y Biología vascular

  

  Investigador Principal

  Pilar Medina Badenes

• Patología Neuromuscular y Ataxias

  

  Investigador Principal

  Teresa Sevilla Mantecón

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.