Brain signal intensity changes as biomarkers in amyotrophic lateral sclerosis

Data de publicació: 01/02/2018

Autors de IIS La Fe

• Juan Francisco Vázquez Costa

  Autor

• Miguel Mazón Momparler

  Autor

• Joan Octavi Carreres Polo

  Autor

• David Hervás Marín

  Autor

• 

  Jordi Perez Tur

  Autor

• 

  Luis Martí Bonmatí

  Autor

• 

  Teresa Sevilla Mantecón

  Autor

Grups d'Investigació

• Investigacion Biomédica en Imagen (GIBI 2-30)

  Investigador Principal

  Leonor Cerdá Alberich

• Investigación en Neuroinmunología y Esclerosis Múltiple

  

  Leader

  Bonaventura Casanova Estruch

• Patología Neuromuscular y Ataxias

  

  Investigador Principal

  Teresa Sevilla Mantecón

Abstract

ObjectivesTo evaluate the contribution of the demographical, clinical, analytical and genetic factors to brain signal intensity changes in T2-weighted MR images in amyotrophic lateral sclerosis (ALS) patients and controls. MethodsSusceptibility-weighted and FLAIR sequences were obtained in a 3T MR scanner. Iron-related hypointensities in the motor cortex (IRhMC) and hyperintensities of the corticospinal tract (HCT) were qualitatively scored. Age, gender, family history and clinical variables were recorded. Baseline levels of ferritin were measured. C9orf72 was tested in all patients and SOD1 only in familial ALS patients not carrying a C9orf72 expansion. Patients who carried a mutation were categorized as genetic. Associations of these variables with visual scores were assessed with multivariable analysis. ResultsA total of 102 ALS patients (92 non-genetic and 10 genetic) and 48 controls (28 ALS mimics and 20 healthy controls) were recruited. In controls, IRhMC associated with age, but HCT did not. In ALS patients, both HTC and IRhMC strongly associated with clinical UMN impairment and bulbar onset. The intensity/extent of IRhMC in the different motor homunculus regions (lower limbs, upper limbs and bulbar) were linked to the symptoms onset site. Between genetic and sporadic patients, no difference in IRhMC and HCT was found. ConclusionsIRhMC and HCT are reliable markers of UMN degeneration in ALS patients and are more frequent in bulbar onset patients, independently of the mutation status. Age should be considered when evaluating IRhMC. The regional measurement of IRhMC following the motor homunculus could be used as a measure of disease progression.

Keywords

• amyotrophic lateral sclerosis; brain iron; corticospinal tract; FLAIR; magnetic resonance imaging; susceptibility weight imaging