Extra-motor involvement in ALS

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Table of contents

Introduction
1. Background
1.1 Hints on spinal cord anatomy
1.2 Basic principles of MRI
1.3 Amyotrophic Lateral Sclerosis
1.3.1 Clinical presentation
1.3.2 Extra-motor involvement in ALS
1.3.3 Diagnosis
1.3.4 Clinical genetics of ALS
1.3.5 Pathology and pathogenesis in ALS
1.3.6 Pathological staging of ALS
1.3.7 Advanced neuroimaging in ALS
1.3.8 Brain imaging in ALS
1.3.9 Spinal cord imaging in ALS
1.3.10 Biomarkers in ALS
1.4 5q-Spinal Muscular Atrophy (SMA)
1.4.1 Clinical presentation of adult 5q-SMA.
1.4.2 Genetic background
1.4.3 Diagnosis
1.4.4 Outcome measures.
1.4.5 Upcoming therapies
2. Objective of the study.
3. Results
Study 1: Spinal cord multi-parametric magnetic resonance imaging for survival prediction in amyotrophic lateral sclerosis
Study 2: Multi-modal spinal cord MRI offers accurate diagnostic classification in ALS
Study 3: Presymptomatic longitudinal cord pathology in c9orf72 mutation carriers: longitudinal neuroimaging study
Study 4: The spinal and cerebral profile of adult spinal-muscular atrophy: a multimodal imaging study
Study 5: The motor neuron number index (MUNIX) profile of patients with adult Spinal Muscular Atrophy
Study 6: Biomarkers definition for adult spinal muscular atrophy (SMA): experience from a longitudinal study
4. General discussion
4.1 Pathological implications of spinal cord MRI studies
4.2 Development of diagnostic and prognostic biomarkers
4.3 Future perspectives
Bibliography