Presymptomatic spinal cord pathology in c9orf72 mutation carriers: A longitudinal neuroimaging study

• Published in: Annals of neurology Vol. 86; no. 2; pp. 158 - 167
• Main Authors: Querin, Giorgia, Bede, Peter, El Mendili, Mohamed Mounir, Li, Menghan, Pélégrini‐Issac, Mélanie, Rinaldi, Daisy, Catala, Martin, Saracino, Dario, Salachas, François, Camuzat, Agnes, Marchand‐Pauvert, Véronique, Cohen‐Adad, Julien, Colliot, Olivier, Le Ber, Isabelle, Pradat, Pierre‐François
• Format: Journal Article
• Language: English
• Published: Hoboken, USA John Wiley & Sons, Inc 01.08.2019; Wiley Subscription Services, Inc; Wiley
• Subjects: Adult; Aged; Amyotrophic lateral sclerosis; Amyotrophic Lateral Sclerosis - diagnostic imaging; Amyotrophic Lateral Sclerosis - genetics; Anisotropy; Asymptomatic Diseases; Atrophy; Bioengineering; C9orf72 Protein - genetics; Computer Science; Computer Vision and Pattern Recognition; Degeneration; Dementia disorders; Engineering Sciences; Follow-Up Studies; Frontotemporal dementia; Frontotemporal Dementia - diagnostic imaging; Frontotemporal Dementia - genetics; Genetics; Heterozygote; Humans; Image Processing; Imaging; Life Sciences; Longitudinal Studies; Magnetic resonance imaging; Medical Imaging; Middle Aged; Mutation; Mutation - genetics; Neurobiology; Neuroimaging; Neuroimaging - trends; Neurology; Neurons and Cognition; Parameters; Prospective Studies; Pyramidal tracts; Signal and Image processing; Spinal cord; Spinal Cord - diagnostic imaging; Subgroups; Substantia grisea; Tensors; Vertebrae; Young Adult

Objective C9orf72 hexanucleotide repeats expansions account for almost half of familial amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) cases. Recent imaging studies in asymptomatic C9orf72 carriers have demonstrated cerebral white (WM) and gray matter (GM) degeneration before...