Juan F Vázquez-Costa1,2,3, Miguel Mazón4, Joan Carreres-Polo4, David Hervás5, Jordi Pérez-Tur6,7,8, Luis Martí-Bonmatí4, Teresa Sevilla1,2,3,9. 1. Neuromuscular Research Unit, Instituto de Investigación Sanitaria la Fe, Valencia, Spain. 2. ALS Unit, Department of Neurology, Hospital Universitario y Politécnico La Fe, Valencia, Spain. 3. Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Valencia, Spain. 4. Department of Radiology and Biomedical Imaging Research Group GIBI230, Hospital Universitario y Politécnico La Fe and Instituto de Investigación Sanitaria la Fe, Valencia, Spain. 5. Biostatistics Unit, Instituto de Investigación Sanitaria la Fe, Valencia, Spain. 6. Laboratory of Molecular Genetics, Institut de Biomedicina de València-CSIC, Valencia, Spain. 7. Centro de Investigación Biomédica en Red de Enfermedades Neurodegenerativas (CIBERNED), Valencia, Spain. 8. Unidad mixta de Neurología y Genética, Instituto de Investigación Sanitaria la Fe (IIS La Fe), Valencia, Spain. 9. Department of Medicine, University of Valencia, Valencia, Spain.
Abstract
OBJECTIVES: To 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. METHODS: Susceptibility-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. RESULTS: A 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. CONCLUSIONS: IRhMC 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.
OBJECTIVES: To 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. METHODS: Susceptibility-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 ALSpatients 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. RESULTS: A total of 102 ALSpatients (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 ALSpatients, 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. CONCLUSIONS: IRhMC and HCT are reliable markers of UMN degeneration in ALSpatients 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.
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