Resting-state fMRI functional connectome of C9orf72 mutation status.

Autor: Stanziano M; Neuroradiology Unit, Foundation IRCCS Neurological Institute Carlo Besta, Milan, Italy.; ALS Centre, 'Rita Levi Montalcini' Department of Neuroscience, University of Turin, Turin, Italy., Fedeli D; Neuroradiology Unit, Foundation IRCCS Neurological Institute Carlo Besta, Milan, Italy., Manera U; ALS Centre, 'Rita Levi Montalcini' Department of Neuroscience, University of Turin, Turin, Italy.; Azienda Ospedaliero-Universitaria Città della Salute e della Scienza di Torino, SC Neurologia 1U, Turin, Italy., Ferraro S; Neuroradiology Unit, Foundation IRCCS Neurological Institute Carlo Besta, Milan, Italy.; MOE Key Laboratory for Neuroinformation, School of Life Science and Technology, University of Electronic Science and Technology of China, Chengdu, China., Medina Carrion JP; Neuroradiology Unit, Foundation IRCCS Neurological Institute Carlo Besta, Milan, Italy., Palermo S; Neuroradiology Unit, Foundation IRCCS Neurological Institute Carlo Besta, Milan, Italy., Sciortino P; Neuroradiology Unit, CTO Hospital, AOU Città della Salute e della Scienza di Torino, Turin, Italy., Cogoni M; Neuroradiology Unit, CTO Hospital, AOU Città della Salute e della Scienza di Torino, Turin, Italy., Agosta F; Neuroimaging Research Unit, Division of Neuroscience, IRCCS San Raffaele Scientific Institute, Milan, Italy.; Neurology Unit, IRCCS San Raffaele Scientific Institute, Milan, Italy.; Vita-Salute San Raffaele University, Milan, Italy., Basaia S; Neuroimaging Research Unit, Division of Neuroscience, IRCCS San Raffaele Scientific Institute, Milan, Italy., Filippi M; Neuroimaging Research Unit, Division of Neuroscience, IRCCS San Raffaele Scientific Institute, Milan, Italy.; Neurology Unit, IRCCS San Raffaele Scientific Institute, Milan, Italy.; Vita-Salute San Raffaele University, Milan, Italy.; Neurorehabilitation Unit, IRCCS San Raffaele Scientific Institute, Milan, Italy.; Neurophysiology Service, IRCCS San Raffaele Scientific Institute, Milan, Italy., Grisoli M; Neuroradiology Unit, Foundation IRCCS Neurological Institute Carlo Besta, Milan, Italy., Valentini MC; Neuroradiology Unit, CTO Hospital, AOU Città della Salute e della Scienza di Torino, Turin, Italy., De Mattei F; ALS Centre, 'Rita Levi Montalcini' Department of Neuroscience, University of Turin, Turin, Italy.; Azienda Ospedaliero-Universitaria Città della Salute e della Scienza di Torino, SC Neurologia 1U, Turin, Italy., Canosa A; ALS Centre, 'Rita Levi Montalcini' Department of Neuroscience, University of Turin, Turin, Italy.; Azienda Ospedaliero-Universitaria Città della Salute e della Scienza di Torino, SC Neurologia 1U, Turin, Italy., Calvo A; ALS Centre, 'Rita Levi Montalcini' Department of Neuroscience, University of Turin, Turin, Italy.; Azienda Ospedaliero-Universitaria Città della Salute e della Scienza di Torino, SC Neurologia 1U, Turin, Italy., Bruzzone MG; Neuroradiology Unit, Foundation IRCCS Neurological Institute Carlo Besta, Milan, Italy., Chiò A; ALS Centre, 'Rita Levi Montalcini' Department of Neuroscience, University of Turin, Turin, Italy.; Azienda Ospedaliero-Universitaria Città della Salute e della Scienza di Torino, SC Neurologia 1U, Turin, Italy.; Institute of Cognitive Sciences and Technologies, National Council of Research, Rome, Italy., Nigri A; Neuroradiology Unit, Foundation IRCCS Neurological Institute Carlo Besta, Milan, Italy., Moglia C; ALS Centre, 'Rita Levi Montalcini' Department of Neuroscience, University of Turin, Turin, Italy.; Azienda Ospedaliero-Universitaria Città della Salute e della Scienza di Torino, SC Neurologia 1U, Turin, Italy.
Jazyk: angličtina
Zdroj: Annals of clinical and translational neurology [Ann Clin Transl Neurol] 2024 Mar; Vol. 11 (3), pp. 686-697. Date of Electronic Publication: 2024 Jan 17.
DOI: 10.1002/acn3.51989
Abstrakt: Objective: The resting-state functional connectome has not been extensively investigated in amyotrophic lateral sclerosis (ALS) spectrum disease, in particular in relationship with patients' genetic status.
Methods: Here we studied the network-to-network connectivity of 19 ALS patients carrying the C9orf72 hexanucleotide repeat expansion (C9orf72+), 19 ALS patients not affected by C9orf72 mutation (C9orf72-), and 19 ALS-mimic patients (ALSm) well-matched for demographic and clinical variables.
Results: When compared with ALSm, we observed greater connectivity of the default mode and frontoparietal networks with the visual network for C9orf72+ patients (P = 0.001). Moreover, the whole-connectome showed greater node degree (P < 0.001), while sensorimotor cortices resulted isolated in C9orf72+.
Interpretation: Our results suggest a crucial involvement of extra-motor functions in ALS spectrum disease. In particular, alterations of the visual cortex may have a pathogenic role in C9orf72-related ALS. The prominent feature of these patients would be increased visual system connectivity with the networks responsible of the functional balance between internal and external attention.
(© 2024 The Authors. Annals of Clinical and Translational Neurology published by Wiley Periodicals LLC on behalf of American Neurological Association.)
Databáze: MEDLINE
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