Resting-state fMRI functional connectome of C9orf72 mutation status
© 2024 The Authors. Annals of Clinical and Translational Neurology published by Wiley Periodicals LLC on behalf of American Neurological Association..
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.
| Medienart: |
E-Artikel |
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| Erscheinungsjahr: |
2024 |
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| Erschienen: |
2024 |
| Enthalten in: |
Zur Gesamtaufnahme - volume:11 |
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| Enthalten in: |
Annals of clinical and translational neurology - 11(2024), 3 vom: 04. März, Seite 686-697 |
| Sprache: |
Englisch |
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| Beteiligte Personen: |
Stanziano, Mario [VerfasserIn] |
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| Links: |
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| Themen: |
C9orf72 Protein |
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| Anmerkungen: |
Date Completed 27.03.2024 Date Revised 28.03.2024 published: Print-Electronic Citation Status MEDLINE |
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| doi: |
10.1002/acn3.51989 |
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| funding: |
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| Förderinstitution / Projekttitel: |
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| PPN (Katalog-ID): |
NLM367245744 |
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| 100 | 1 | |a Stanziano, Mario |e verfasserin |4 aut | |
| 245 | 1 | 0 | |a Resting-state fMRI functional connectome of C9orf72 mutation status |
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| 500 | |a Date Revised 28.03.2024 | ||
| 500 | |a published: Print-Electronic | ||
| 500 | |a Citation Status MEDLINE | ||
| 520 | |a © 2024 The Authors. Annals of Clinical and Translational Neurology published by Wiley Periodicals LLC on behalf of American Neurological Association. | ||
| 520 | |a 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 | ||
| 520 | |a 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 | ||
| 520 | |a 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+ | ||
| 520 | |a 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 | ||
| 650 | 4 | |a Journal Article | |
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| 650 | 7 | |a Proteins |2 NLM | |
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| 700 | 1 | |a Fedeli, Davide |e verfasserin |4 aut | |
| 700 | 1 | |a Manera, Umberto |e verfasserin |4 aut | |
| 700 | 1 | |a Ferraro, Stefania |e verfasserin |4 aut | |
| 700 | 1 | |a Medina Carrion, Jean P |e verfasserin |4 aut | |
| 700 | 1 | |a Palermo, Sara |e verfasserin |4 aut | |
| 700 | 1 | |a Sciortino, Paola |e verfasserin |4 aut | |
| 700 | 1 | |a Cogoni, Maurizio |e verfasserin |4 aut | |
| 700 | 1 | |a Agosta, Federica |e verfasserin |4 aut | |
| 700 | 1 | |a Basaia, Silvia |e verfasserin |4 aut | |
| 700 | 1 | |a Filippi, Massimo |e verfasserin |4 aut | |
| 700 | 1 | |a Grisoli, Marina |e verfasserin |4 aut | |
| 700 | 1 | |a Valentini, Maria C |e verfasserin |4 aut | |
| 700 | 1 | |a De Mattei, Filippo |e verfasserin |4 aut | |
| 700 | 1 | |a Canosa, Antonio |e verfasserin |4 aut | |
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| 700 | 1 | |a Nigri, Anna |e verfasserin |4 aut | |
| 700 | 1 | |a Moglia, Cristina |e verfasserin |4 aut | |
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