Article
Loss of brainstem white matter predicts onset and motor neuron symptoms in C9orf72 expansion carriers: a GENFI study.
Journal of neurology - 1 Mar 2023
Pérez-Millan Agnès, Borrego-Écija Sergi, van Swieten John C, Jiskoot Lize, Moreno Fermin, Laforce Robert, Graff Caroline, Masellis Mario, Tartaglia Maria Carmela, Rowe James B, Borroni Barbara, Finger Elizabeth, Synofzik Matthis, Galimberti Daniela, Vandenberghe Rik, de Mendonça Alexandre, Butler Chris R, Gerhard Alexander, Ducharme Simon, Le Ber Isabelle, Santana Isabel, Pasquier Florence, Levin Johannes, Otto Markus, Sorbi Sandro, Tiraboschi Pietro, Seelaar Harro, Langheinrich Tobias, Rohrer Jonathan D, Sala-Llonch Roser, Sánchez-Valle Raquel
Abstract excerpt
BACKGROUND AND OBJECTIVES: The C9orf72 expansion is the most common genetic cause of frontotemporal dementia (FTD) and/or motor neuron disease (MND). Corticospinal degeneration has been described in post-mortem neuropathological studies in these patients, especially in those with MND. We used MRI to analyze white matter (WM) volumes in presymptomatic and symptomatic C9orf72 expansion carriers and investigated...
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