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Peer-reviewedCC BY-NC-ND 4.0NeuroImage: Clinical

Altered Cortico-cerebellar effective connectivity of the Visuo-attentional system is associated with READ1 deletion in developmental dyslexia

  • Gökçe Korkmaz1
  • Roberta Maria Lorenzi1
  • Valentina Lampis1,2
  • Denis Peruzzo3
  • Filippo Arrigoni4
  • Doris Pischedda1
  • Egidio D'Angelo1,5
  • Fulvia Palesi1
  • Sara Mascheretti1,2
  • Claudia A.M. Gandini Wheeler-Kingshott1,5,6
6 affiliations
  1. 1Department of Brain and Behavioral sciences, University of Pavia, Pavia, Italy
  2. 2Child Psychopathology Unit, Scientific Institute, IRCCS Eugenio Medea, Bosisio Parini, Italy
  3. 3Neuroimaging Lab, Scientific Institute, IRCCS Eugenio Medea, Bosisio Parini, Italy
  4. 4Pediatric Radiology and Neuroradiology Department, Children's Hospital V. Buzzi, Milan, Italy
  5. 5Digital Neuroscience Center, IRCCS Mondino Foundation, Pavia, Italy
  6. 6NMR Research Unit, Queen Square Multiple Sclerosis Centre, Department of Neuroinflammation, UCL Queen Square Institute of Neurology, UCL (University College London), London, UK
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Abstract

Developmental dyslexia (DD) is a heritable neurodevelopmental disorder associated with altered brain connectivity. The influence of genetic risks on cortico-cerebellar effective connectivity (EC) remains unclear. The present study investigates how reading proficiency and the READ1 deletion (READ1d) in the DCDC2 gene modulate visuo-attentional network dynamics. Functional MRI data were acquired in 78 children (DD and typical readers, with/without READ1d) performing a coherent motion detection task. EC within a seven-region visuo-attentional network, including magnocellular, ventral attention, and cerebellar (crus I) regions, was estimated using Dynamic Causal Modelling. Group-level effects were assessed using Parametric Empirical Bayes within a hierarchical Bayesian framework, testing reading proficiency, READ1d status, and their interaction (posterior probability threshold, Pp > 0.95). Reading proficiency was associated with increased cerebellar influence on visual and frontal regions, alongside reduced intra-cortical connectivity within dorsal stream pathways. The presence of READ1d was associated with reduced EC from primary visual and cerebellar regions to magnocellular and ventral attention networks, and increased intra-cortical interactions. The interaction between DD and READ1d revealed further reductions in cortico-cerebellar connectivity and altered network dynamics. Group-level analyses revealed EC differences in cortico-cerebellar pathways, which are reported as exploratory findings. Cortico–cerebellar EC is modulated by both reading proficiency and genetic susceptibility. Altered cerebellar contributions to visuo-attentional processes may represent a potential imaging-genetic signature of dyslexia, warranting replication in independent samples and validation through longitudinal and multimodal approaches.

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Cite

BibTeXRIS
BibTeX
@article{korkmaz2026altered,
  title = {{Altered Cortico-cerebellar effective connectivity of the Visuo-attentional system is associated with READ1 deletion in developmental dyslexia}},
  author = {Gökçe Korkmaz and Roberta Maria Lorenzi and Valentina Lampis and Denis Peruzzo and Filippo Arrigoni and Doris Pischedda and Egidio D'Angelo and Fulvia Palesi and Sara Mascheretti and Claudia A.M. Gandini Wheeler-Kingshott},
  journal = {NeuroImage: Clinical},
  year = {2026},
  month = oct,
  doi = {10.1016/j.nicl.2026.104081},
  url = {https://doi.org/10.1016/j.nicl.2026.104081},
  note = {CC BY-NC-ND 4.0},
}
RIS
TY  - JOUR
TI  - Altered Cortico-cerebellar effective connectivity of the Visuo-attentional system is associated with READ1 deletion in developmental dyslexia
AU  - Gökçe Korkmaz
AU  - Roberta Maria Lorenzi
AU  - Valentina Lampis
AU  - Denis Peruzzo
AU  - Filippo Arrigoni
AU  - Doris Pischedda
AU  - Egidio D'Angelo
AU  - Fulvia Palesi
AU  - Sara Mascheretti
AU  - Claudia A.M. Gandini Wheeler-Kingshott
PY  - 2026
DA  - 2026/10/22
JO  - NeuroImage: Clinical
DO  - 10.1016/j.nicl.2026.104081
UR  - https://doi.org/10.1016/j.nicl.2026.104081
AB  - Developmental dyslexia (DD) is a heritable neurodevelopmental disorder associated with altered brain connectivity. The influence of genetic risks on cortico-cerebellar effective connectivity (EC) remains unclear. The present study investigates how reading proficiency and the READ1 deletion (READ1d) in the DCDC2 gene modulate visuo-attentional network dynamics. Functional MRI data were acquired in 78 children (DD and typical readers, with/without READ1d) performing a coherent motion detection task. EC within a seven-region visuo-attentional network, including magnocellular, ventral attention, and cerebellar (crus I) regions, was estimated using Dynamic Causal Modelling. Group-level effects were assessed using Parametric Empirical Bayes within a hierarchical Bayesian framework, testing reading proficiency, READ1d status, and their interaction (posterior probability threshold, Pp > 0.95). Reading proficiency was associated with increased cerebellar influence on visual and frontal regions, alongside reduced intra-cortical connectivity within dorsal stream pathways. The presence of READ1d was associated with reduced EC from primary visual and cerebellar regions to magnocellular and ventral attention networks, and increased intra-cortical interactions. The interaction between DD and READ1d revealed further reductions in cortico-cerebellar connectivity and altered network dynamics. Group-level analyses revealed EC differences in cortico-cerebellar pathways, which are reported as exploratory findings. Cortico–cerebellar EC is modulated by both reading proficiency and genetic susceptibility. Altered cerebellar contributions to visuo-attentional processes may represent a potential imaging-genetic signature of dyslexia, warranting replication in independent samples and validation through longitudinal and multimodal approaches.
SN  - 2213-1582
ER  -