Altered Intracerebellar Functional Connectivity in Friedreich’s Ataxia: A Graph-Theory Functional MRI Study

Historically, Friedreich’s Ataxia (FRDA) has been linked to a relatively preserved cerebellar cortex. Recent advances in neuroimaging have revealed altered cerebello-cerebral functional connectivity (FC), but the extent of intra-cerebellar FC changes and their impact on cognition remains unclear. Th...

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Vydáno v:Cerebellum (London, England) Ročník 24; číslo 2; s. 30
Hlavní autoři: Tranfa, Mario, Costabile, Teresa, Pontillo, Giuseppe, Scaravilli, Alessandra, Pane, Chiara, Brunetti, Arturo, Saccà, Francesco, Cocozza, Sirio
Médium: Journal Article
Jazyk:angličtina
Vydáno: New York Springer US 14.01.2025
Springer Nature B.V
Témata:
Adult
Ataxia
Biomedical and Life Sciences
Biomedicine
Cerebellum
Cerebellum - diagnostic imaging
Cerebellum - physiopathology
Cross-Sectional Studies
Efficiency
Female
Friedreich Ataxia - diagnostic imaging
Friedreich Ataxia - physiopathology
Friedreich Ataxia - psychology
Functional magnetic resonance imaging
Humans
Magnetic Resonance Imaging - methods
Male
Measuring techniques
Neural networks
Neural Pathways - diagnostic imaging
Neural Pathways - physiopathology
Neurobiology
Neuroimaging
Neurology
Neuropsychological Tests
Neurosciences
Psychology
Young Adult
Verbal memory
Functional MRI
Graph theory
Friedreich’s Ataxia
Cognitive impairment
ISSN:1473-4230, 1473-4222, 1473-4230
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Abstract Historically, Friedreich’s Ataxia (FRDA) has been linked to a relatively preserved cerebellar cortex. Recent advances in neuroimaging have revealed altered cerebello-cerebral functional connectivity (FC), but the extent of intra-cerebellar FC changes and their impact on cognition remains unclear. This study investigates intra-cerebellar FC alterations and their cognitive implications in FRDA. In this cross-sectional, single-center study, resting-state functional MRI data from 17 patients with FRDA (average age 27.7 ± 13.6 years; F/M = 6/11) and 20 healthy controls (HC) (average age 29.4 ± 9.7 years; F/M = 9/11), all of whom underwent neuropsychological testing, were analyzed. From functional connectivity matrices, graph measures were computed at both the network and node levels using two complementary parcellations. FRDA patients exhibited decreased global efficiency ( p  = 0.04), nodal degree ( p  = 0.001) and betweenness centrality ( p  = 0.04) in the vermal portion of lobule VIII, along with reduced global efficiency in cerebellar regions belonging to the Control-A network ( p  = 0.02), one of the three subdivisions of the Frontoparietal network. Verbal memory deficits correlated with global efficiency in both the vermal portion of lobule VIII ( r  = 0.53, p  = 0.02) and the cerebellar regions of the Control-A network ( r  = 0.49, p  = 0.05). Graph analysis revealed regional intra-cerebellar FC changes in FRDA, marked by reduced functional centrality in cerebellar regions of the vermis and responsible for executive functions. These changes correlated with cognitive alterations, highlighting the role of the cerebellar cortex in the cognitive impairment observed in FRDA.
AbstractList Historically, Friedreich’s Ataxia (FRDA) has been linked to a relatively preserved cerebellar cortex. Recent advances in neuroimaging have revealed altered cerebello-cerebral functional connectivity (FC), but the extent of intra-cerebellar FC changes and their impact on cognition remains unclear. This study investigates intra-cerebellar FC alterations and their cognitive implications in FRDA. In this cross-sectional, single-center study, resting-state functional MRI data from 17 patients with FRDA (average age 27.7 ± 13.6 years; F/M = 6/11) and 20 healthy controls (HC) (average age 29.4 ± 9.7 years; F/M = 9/11), all of whom underwent neuropsychological testing, were analyzed. From functional connectivity matrices, graph measures were computed at both the network and node levels using two complementary parcellations. FRDA patients exhibited decreased global efficiency (p = 0.04), nodal degree (p = 0.001) and betweenness centrality (p = 0.04) in the vermal portion of lobule VIII, along with reduced global efficiency in cerebellar regions belonging to the Control-A network (p = 0.02), one of the three subdivisions of the Frontoparietal network. Verbal memory deficits correlated with global efficiency in both the vermal portion of lobule VIII (r = 0.53, p = 0.02) and the cerebellar regions of the Control-A network (r = 0.49, p = 0.05). Graph analysis revealed regional intra-cerebellar FC changes in FRDA, marked by reduced functional centrality in cerebellar regions of the vermis and responsible for executive functions. These changes correlated with cognitive alterations, highlighting the role of the cerebellar cortex in the cognitive impairment observed in FRDA.
Historically, Friedreich’s Ataxia (FRDA) has been linked to a relatively preserved cerebellar cortex. Recent advances in neuroimaging have revealed altered cerebello-cerebral functional connectivity (FC), but the extent of intra-cerebellar FC changes and their impact on cognition remains unclear. This study investigates intra-cerebellar FC alterations and their cognitive implications in FRDA. In this cross-sectional, single-center study, resting-state functional MRI data from 17 patients with FRDA (average age 27.7 ± 13.6 years; F/M = 6/11) and 20 healthy controls (HC) (average age 29.4 ± 9.7 years; F/M = 9/11), all of whom underwent neuropsychological testing, were analyzed. From functional connectivity matrices, graph measures were computed at both the network and node levels using two complementary parcellations. FRDA patients exhibited decreased global efficiency ( p  = 0.04), nodal degree ( p  = 0.001) and betweenness centrality ( p  = 0.04) in the vermal portion of lobule VIII, along with reduced global efficiency in cerebellar regions belonging to the Control-A network ( p  = 0.02), one of the three subdivisions of the Frontoparietal network. Verbal memory deficits correlated with global efficiency in both the vermal portion of lobule VIII ( r  = 0.53, p  = 0.02) and the cerebellar regions of the Control-A network ( r  = 0.49, p  = 0.05). Graph analysis revealed regional intra-cerebellar FC changes in FRDA, marked by reduced functional centrality in cerebellar regions of the vermis and responsible for executive functions. These changes correlated with cognitive alterations, highlighting the role of the cerebellar cortex in the cognitive impairment observed in FRDA.
Historically, Friedreich's Ataxia (FRDA) has been linked to a relatively preserved cerebellar cortex. Recent advances in neuroimaging have revealed altered cerebello-cerebral functional connectivity (FC), but the extent of intra-cerebellar FC changes and their impact on cognition remains unclear. This study investigates intra-cerebellar FC alterations and their cognitive implications in FRDA. In this cross-sectional, single-center study, resting-state functional MRI data from 17 patients with FRDA (average age 27.7 ± 13.6 years; F/M = 6/11) and 20 healthy controls (HC) (average age 29.4 ± 9.7 years; F/M = 9/11), all of whom underwent neuropsychological testing, were analyzed. From functional connectivity matrices, graph measures were computed at both the network and node levels using two complementary parcellations. FRDA patients exhibited decreased global efficiency (p = 0.04), nodal degree (p = 0.001) and betweenness centrality (p = 0.04) in the vermal portion of lobule VIII, along with reduced global efficiency in cerebellar regions belonging to the Control-A network (p = 0.02), one of the three subdivisions of the Frontoparietal network. Verbal memory deficits correlated with global efficiency in both the vermal portion of lobule VIII (r = 0.53, p = 0.02) and the cerebellar regions of the Control-A network (r = 0.49, p = 0.05). Graph analysis revealed regional intra-cerebellar FC changes in FRDA, marked by reduced functional centrality in cerebellar regions of the vermis and responsible for executive functions. These changes correlated with cognitive alterations, highlighting the role of the cerebellar cortex in the cognitive impairment observed in FRDA.Historically, Friedreich's Ataxia (FRDA) has been linked to a relatively preserved cerebellar cortex. Recent advances in neuroimaging have revealed altered cerebello-cerebral functional connectivity (FC), but the extent of intra-cerebellar FC changes and their impact on cognition remains unclear. This study investigates intra-cerebellar FC alterations and their cognitive implications in FRDA. In this cross-sectional, single-center study, resting-state functional MRI data from 17 patients with FRDA (average age 27.7 ± 13.6 years; F/M = 6/11) and 20 healthy controls (HC) (average age 29.4 ± 9.7 years; F/M = 9/11), all of whom underwent neuropsychological testing, were analyzed. From functional connectivity matrices, graph measures were computed at both the network and node levels using two complementary parcellations. FRDA patients exhibited decreased global efficiency (p = 0.04), nodal degree (p = 0.001) and betweenness centrality (p = 0.04) in the vermal portion of lobule VIII, along with reduced global efficiency in cerebellar regions belonging to the Control-A network (p = 0.02), one of the three subdivisions of the Frontoparietal network. Verbal memory deficits correlated with global efficiency in both the vermal portion of lobule VIII (r = 0.53, p = 0.02) and the cerebellar regions of the Control-A network (r = 0.49, p = 0.05). Graph analysis revealed regional intra-cerebellar FC changes in FRDA, marked by reduced functional centrality in cerebellar regions of the vermis and responsible for executive functions. These changes correlated with cognitive alterations, highlighting the role of the cerebellar cortex in the cognitive impairment observed in FRDA.
ArticleNumber 30
Author Costabile, Teresa
Saccà, Francesco
Cocozza, Sirio
Tranfa, Mario
Pontillo, Giuseppe
Pane, Chiara
Brunetti, Arturo
Scaravilli, Alessandra
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Keywords Verbal memory
Functional MRI
Graph theory
Friedreich’s Ataxia
Cognitive impairment
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Snippet Historically, Friedreich’s Ataxia (FRDA) has been linked to a relatively preserved cerebellar cortex. Recent advances in neuroimaging have revealed altered...
Historically, Friedreich's Ataxia (FRDA) has been linked to a relatively preserved cerebellar cortex. Recent advances in neuroimaging have revealed altered...
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SubjectTerms Adult
Ataxia
Biomedical and Life Sciences
Biomedicine
Cerebellum
Cerebellum - diagnostic imaging
Cerebellum - physiopathology
Cross-Sectional Studies
Efficiency
Female
Friedreich Ataxia - diagnostic imaging
Friedreich Ataxia - physiopathology
Friedreich Ataxia - psychology
Functional magnetic resonance imaging
Humans
Magnetic Resonance Imaging - methods
Male
Measuring techniques
Neural networks
Neural Pathways - diagnostic imaging
Neural Pathways - physiopathology
Neurobiology
Neuroimaging
Neurology
Neuropsychological Tests
Neurosciences
Psychology
Young Adult
Title Altered Intracerebellar Functional Connectivity in Friedreich’s Ataxia: A Graph-Theory Functional MRI Study
URI https://link.springer.com/article/10.1007/s12311-025-01785-3
https://www.ncbi.nlm.nih.gov/pubmed/39808241
https://www.proquest.com/docview/3155469960
https://www.proquest.com/docview/3155362869
https://pubmed.ncbi.nlm.nih.gov/PMC11732920
Volume 24
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